Adult Congenital Heart Disease

Meet the patient

A 28-year-old electrician is in your clinic after an insurance medical found a murmur. He plays football at the weekend, has never been told he had a heart problem, and his oxygen saturation is 98%. His GP heard a widely split second sound and saw an incomplete right bundle branch block on the ECG, and has correctly sent him on.^[1][2]

Two questions run the rest of this topic, and they run every ACHD clinic you will ever sit in: is there a shunt, and has the lung circulation crossed the line into irreversible pulmonary vascular disease yet? Spot the secundum ASD now, close it before the right heart dilates, and he is functionally cured. Miss it for two more decades and he reappears as the next patient — clubbed, cyanotic, with a murmur that has quietly disappeared.^[1][3]

The one decision that runs the whole topic — close the shunt before the lung turns to concrete

ACHD is the lifetime cardiology care of patients with a structural cardiovascular malformation present since birth who survive into adulthood — whether unrepaired, surgically palliated, surgically repaired, or percutaneously treated. The 2020 ESC and 2018 AHA/ACC guidelines frame it identically: a specialty built around altered anatomy, not acquired disease.^[1][2]

It is also one of the great public-health success stories of modern cardiology. ESC 2020: more than 90% of individuals with CHD who are born now survive into adulthood, and prevalence in the community now by far exceeds the number of children with CHD. The practical consequence: every general cardiology clinic, obstetric service and anaesthetic list now contains ACHD patients, and routine adult protocols are built for acquired disease and will hurt them.^[1]

The conceptual core is the shunt decision. Most congenital lesions make an abnormal communication that drives blood from a high-pressure to a low-pressure chamber — a left-to-right shunt. The danger is never the shunt itself; it is the pulmonary vascular remodelling the over-circulation produces. Once that remodelling becomes irreversible, the patient has crossed into Eisenmenger syndrome, and the entire strategy inverts — the shunt must not be closed. The single most examinable fact in ACHD is the natural history and bedside phenotype of that transition.^[1][3]

The other pillar is the repaired patient. Surviving into adulthood after neonatal surgery is not a cure — it is a new physiology that needs lifelong surveillance. Repaired TOF develops pulmonary regurgitation over decades; coarctation repair leaves lifelong risk of re-coarctation, aneurysm and hypertension; a Mustard/Senning atrial switch leaves a systemic right ventricle destined to fail; a Fontan palliates single-ventricle physiology at the cost of venous congestion, protein-losing enteropathy and atrial arrhythmia. Recognising these late sequelae is the bulk of adult ACHD practice.^[1][2]

Who you are looking at — sorting complexity so the patient lands in the right centre

Complexity triage decides where the patient is followed and by whom, and getting it wrong causes avoidable deaths. ACHD is classified two complementary ways: by anatomical complexity (which drives centre allocation) and by haemodynamic pattern (which drives bedside and imaging reasoning).^[1][2]

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At the bedside, classify by what the lesion does to flow, not by where it sits — that is what drives the murmur, the saturation and the imaging call:^[1]

^[1]

Running in parallel with anatomy, the 2018 AHA/ACC guideline adds a physiological stage A–D (A at risk; B mild burden; C moderate; D severe with decompensation). Anatomy crossed with physiology gives the ACHD AP class (for example, "moderate complexity, stage C" is II-C), which sets follow-up intensity.^[2]

How common it is, and the syndromes you must name on sight

You will meet ACHD in every clinic you run for the rest of your career, and the syndromic associations are pure viva currency. Survival of CHD into adulthood is now over 90% and the adult population by far exceeds the paediatric one.^[1]

^[1]

The commonest unrepaired CHD presenting in adults in the developed world is the secundum ASD — an isolated one may stay silent into the fifth decade. In developing regions, including India, late presentations of rheumatic mitral stenosis mistaken for congenital disease are still common, and unrepaired large VSD, PDA and TOF keep arriving in adolescence and adulthood because of cost and access barriers.^[1]

^[1]

Risk factors for late presentation are low socioeconomic status, rural residence, female sex (postponed paediatric surgery in some cultures), a co-existing syndrome that delays diagnosis, and migration from a region without CHD services. The single biggest risk factor for an Eisenmenger outcome is non-closure of a large L-to-R shunt in childhood — which is why early closure of significant VSD, PDA and AVSD is one of the most cost-effective interventions in global health.^[1][3]

The shunt, the Qp:Qs ratio, and the line you must not cross

Every shunt is sized by one ratio and judged against one resistance — get both on the page and the whole topic collapses to a single decision. A shunt moves blood between two chambers or great vessels, and its size is the pulmonary-to-systemic flow ratio, Qp:Qs:^[3]

• Qp:Qs is the pulmonary-to-systemic flow ratio used to quantify a shunt; ESC 2020 does not publish a 1.5 / 2.0 closure cut-off for ASD.
• ASD closure is judged by right-heart enlargement plus PVR: if PVR is under 5 Wood units, closure has been shown to be safe; if PVR is 5 WU or more, complete closure is avoided (treat PAH first; consider fenestrated closure only if PVR later falls below 5 WU with a significant left-to-right shunt).

^[1]

A left-to-right shunt pours extra volume into the pulmonary circulation. The right heart and pulmonary bed accommodate it for years — the patient feels well — but chronic over-circulation progressively remodels the pulmonary arterioles: medial hypertrophy, intimal proliferation, and finally plexiform lesions, the histological hallmark of irreversible PAH. When PVR approaches systemic vascular resistance (SVR), the shunt decelerates, then reverses to right-to-left. That reversal is the Eisenmenger transition, and it is a one-way door.^[1]

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The molecular biology is the same as in idiopathic pulmonary arterial hypertension: endothelial injury from high flow and shear tilts the balance toward vasoconstrictors (endothelin-1, thromboxane A2, serotonin) and away from vasodilators (nitric oxide, prostacyclin). Smooth muscle proliferates, the intima thickens, plexiform lesions appear, and the vasodilator response is progressively lost — which is exactly why acute vasoreactivity testing is negative in established Eisenmenger. The right ventricle hypertrophies, then over the years dilates and fails.^[1]

ESC 2020 numbers that decide whether you may close an ASD:^[1]

1. Pre-capillary PAH is defined as mean PAP over 20 mmHg with PAWP 15 mmHg or less and PVR of 3 Wood units or more.
2. PVR under 5 Wood units — ASD closure has been shown to be safe, with a fall in pulmonary artery pressure and fewer symptoms.
3. PVR of 5 Wood units or more — patients are unlikely to improve and may do worse with complete ASD closure; vasoreactivity testing is not recommended to decide closure; treat PAH and reconsider fenestrated closure only if PVR later falls below 5 WU with a significant left-to-right shunt. Net right-to-left shunting with systemic-level PVR is Eisenmenger: do not close. ^[1]

Etymology for viva gold: Eisenmenger is a name — Victor Eisenmenger described the syndrome in 1897. Plexiform is from Latin plexus, 'braided' — the tangled tuft of thin-walled vessels that is the histological signature of irreversible pulmonary arterial hypertension, and the reason no vasodilator will reopen the bed.^[1]

Why each repaired patient comes back — the four late stories

A repaired patient is never 'fixed'; they are on a clock. Each operation leaves a specific late problem, and recognising which one is ticking is the heart of the adult clinic.^[1][2]

The systemic right ventricle is built to fail. In d-TGA after an atrial switch (Mustard or Senning), and in ccTGA, the morphological right ventricle pumps the systemic circulation. The RV is engineered for low-pressure, high-volume work — thin walls, sinusoidal fibres — and is poorly adapted to systemic afterload. Over three to five decades it hypertrophies, then dilates, then fails, usually with tricuspid (systemic AV valve) regurgitation and atrial arrhythmia. This is the principal late cause of heart failure and death in this group, and it is the entire rationale for the modern primary arterial switch (Jatene).^[1][3]

Repaired TOF pays for its freedom with pulmonary regurgitation. The classical repair closes the VSD and rebuilds the right ventricular outflow tract (RVOT), usually with a transannular patch that widens the RVOT but sacrifices pulmonary valve competence. The resulting chronic pulmonary regurgitation is tolerated for decades, then drives RV dilatation, QRS prolongation on the ECG, and the risk of sustained ventricular tachycardia and sudden cardiac death. The late fix is pulmonary valve replacement, increasingly percutaneous with Melody or Sapien valves.^[2]

Coarctation trades obstruction for collateral plumbing. The narrowing is usually juxta-ductal, just distal to the left subclavian. The descending aorta is then perfused by collaterals — internal mammary to intercostal to subclavian — which is why you get upper-limb hypertension, radio-femoral delay, weak or absent femoral pulses, and erosion of the undersides of ribs 4–8 by those dilated intercostals (rib notching). The figure-of-3 sign on the chest X-ray is the pre-stenotic left subclavian dilatation, the coarctation notch, and the post-stenotic descending aortic dilatation.^[1][5]

Even a tiny ASD lets a clot cross the heart. A small ASD or PFO can let a venous thrombus slip from right to left atrium during a transient RA pressure rise — a cough, a Valsalva, a pulmonary embolism — causing cryptogenic stroke. This is the rationale for PFO closure in selected young stroke patients (the RESPECT trial) and for Valsalva precautions and air-bubble avoidance in every IV line you put up in an ACHD patient.^[1]

Read the bedside like the examiner is watching

No cardiology subspecialty rewards the bedside examination more than ACHD — name the manoeuvre and its physiology and the marks fall. Most unrepaired lesions present in adulthood in one of four ways: an incidental murmur in a young adult; new exertional dyspnoea or atrial arrhythmia in middle age; stroke or TIA from paradoxical embolism; or late decompensation with right-heart failure or Eisenmenger symptoms.^[1][5]

The secundum ASD — a triad worth memorising

The prototype of late-presentation ACHD. The L-to-R shunt volume-loads the right atrium and ventricle for decades; most patients are asymptomatic until the fourth to sixth decade, when exertional dyspnoea (the commonest first symptom), atrial fibrillation or flutter (the dilated right atrium re-enters), right-heart failure, paradoxical embolism, or recurrent chest infections from over-circulation bring them in.^[1][3]

The ASD bedside triad: wide, fixed split S2 + pulmonary flow murmur + RV precordial heave. Pulse usually regular and small-volume if the shunt is large; a prominent a-wave on the JVP if pulmonary hypertension is brewing; a palpable RV impulse at the lower left sternal edge and a prominent pulmonary artery pulsation in the second left intercostal space.^[1]

Coarctation — the diagnostic gift

Presents with upper-body hypertension (often in young men), headaches, epistaxis, and leg claudication or fatigue — cold feet on exercise. The findings are the gift: radio-femoral delay, weak or absent femoral pulses, an arm-to-leg systolic gradient of 20 mmHg or more, and an interscapular bruit from collaterals. A co-existing bicuspid aortic valve is common and adds an ejection click or aortic murmur. Consider Turner syndrome in any female with coarctation, and screen every coarctation for a bicuspid valve and vice versa.^[1][5]

Eisenmenger — the cyanotic phenotype

The classic picture is central cyanosis, digital clubbing, and a long history of a 'hole in the heart' never closed. Run through it as a list you can reproduce:^[1][3]

• Central cyanosis — lips, tongue, nailbeds, best seen in natural light with warm hands.
• Digital clubbing — loss of the nail-bed angle; Schamroth's window test is positive (see reproduced tests below).
• Secondary erythrocytosis — present in most patients, a renal-erythropoietin response to chronic hypoxaemia; it drives the hyperviscosity syndrome and is distinct from polycythaemia vera.^[10]
• Hyperviscosity symptoms — headaches, visual disturbance, tinnitus, fatigue, paraesthesia. Iron deficiency from injudicious phlebotomy worsens these and must be avoided.
• Haemoptysis — rupture of dilated bronchial collaterals or in situ pulmonary artery thrombosis; the most-feared complication.
• Late right-heart failure — raised JVP, hepatomegaly, peripheral oedema.
• Syncope or sudden death — arrhythmia, or massive pulmonary embolism or haemorrhage.
• Hyperuricaemia and gout — from increased erythrocyte turnover.
• Cerebral abscess or venous sinus thrombosis — because the R-to-L shunt bypasses the lung's filter for bacteria and clot. ^[1][10]

The type of shunt predicts where the cyanosis lands — pure exam gold:^[3]

• VSD or AVSD Eisenmenger — uniform central cyanosis.
• PDA Eisenmenger — differential cyanosis: hands (pre-ductal, perfused by the left ventricle) pink; feet (post-ductal, perfused by the pulmonary artery through the PDA) blue.
• ASD Eisenmenger — late, milder cyanosis; ASD has the lowest pressure gradient and usually the slowest PAH progression. ^[1]

Repaired Tetralogy of Fallot — the late phenotype

RV heave from chronic pulmonary regurgitation; an absent or single S2 (P2 is gone because the valve is regurgitant or patched over); a low-pitched early-diastolic murmur at the upper left sternal edge (the pulmonary regurgitation), with a residual ejection murmur if RVOT obstruction persists. The ECG shows RBBB from the RVOT incision or patch, and a QRS of 180 ms or more was 100% sensitive for sustained VT and sudden death in the 1995 series; ESC 2020 lists it as a possible risk factor for ventricular arrhythmia and SCD.^[16][1]

Ebstein anomaly — the ECG you can spot from the door

Congenital downward displacement of the septal and posterior tricuspid leaflets into the RV produces severe tricuspid regurgitation, 'atrialisation' of the RV inlet (a slice of RV becomes functionally right atrium), a small functional RV, and usually an ASD or PFO — with R-to-L shunting in severe, cyanotic Ebstein. Adults present with accessory-pathway SVT (WPW), right-heart failure, dyspnoea, or an incidental murmur. The ECG is pathognomonic: giant P waves from right atrial enlargement, a long PR, RBBB, and WPW with a right-sided pathway giving a left-bundle-branch-block-pattern delta wave.^[1][5]

Reproduced bedside tests — practise these on the round

• Schamroth's window test — place the distal phalanges of the same fingers of opposite hands nail-to-nail. Loss of the normal diamond-shaped window is clubbing.
• Pre- and post-ductal SpO2 — measure at the right hand (pre-ductal) and a foot (post-ductal); a drop of over 3%, usually much greater, post-ductally diagnoses differential cyanosis from PDA Eisenmenger.
• Müller's manoeuvre (inspiration against a closed glottis) boosts venous return and accentuates right-sided murmurs; Valsalva drops RV filling and softens them — the opposite of its effect in HOCM.
• Squat-to-stand — in pulmonary stenosis the murmur falls on standing (reduced venous return); in ASD it barely changes.

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The differential — framed by the bedside finding, not as a list

Name the dominant finding, then the discriminating feature for each mimic. That is how the viva is scored.^[1]

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Three discriminators are pure viva currency:^[1]

• ASD versus pulmonary stenosis — both give a pulmonary-area ejection murmur, but only ASD has the wide, fixed split S2.
• PDA-Eisenmenger versus coarctation — both can give differential cyanosis, but coarctation has upper-body hypertension and rib notching with no central cyanosis; PDA-Eisenmenger is cyanotic in the feet only.
• Eisenmenger clubbing versus chronic lung disease clubbing — Eisenmenger has the shunt history, secondary erythrocytosis with normal platelets and white cells, a prominent pulmonary artery on CXR, and clear lung fields (the remodelled vasculature is the problem, not the parenchyma). ^[1]

Investigations — ECG to catheter, and the one number that decides closure

Layer the tests, but remember that one catheter number — the PVR — decides whether you may ever close.^[1]

The ECG patterns are the highest-yield instant-recognition table in the topic:^[1]

^[1]

The chest X-ray signatures repay a moment's thought:^[1]

• ASD — cardiomegaly, a prominent pulmonary artery segment, plethoric lung fields from over-circulation; a normal-sized aortic knuckle.
• Coarctation — rib notching (undersides of ribs 4–8 from dilated intercostal collaterals), the figure-of-3 sign, and LVH.
• Eisenmenger — large central pulmonary arteries with pruned, oligaemic peripheral lung fields (the radiological signature of PAH) and RV enlargement.
• Ebstein — massive cardiomegaly, the 'box-shaped heart', from severe right atrial enlargement, with a small pulmonary trunk.
• Untreated TOF — the boot-shaped heart (coeur en sabot: upturned apex from RVH plus a concave pulmonary segment).
• Pulmonary regurgitation or repaired TOF — a dilated pulmonary artery. ^[1]

Transthoracic echocardiography is the workhorse and defines the lesion, its size, its haemodynamic effect, and ventricular function. Specific uses: ASD type and rims (a deficient retro-aortic rim is the commonest reason to send secundum ASD to surgery rather than device), shunt direction and Qp:Qs estimate; VSD location and jet velocity (a high-velocity jet across a small VSD means a large LV-to-RV gradient and is protective against PAH); PDA size and pulmonary pressure from the jet; coarctation site and gradient with associated BAV; Ebstein tricuspid displacement and TR severity; repaired-TOF PR fraction and RV size; and pulmonary pressure from the tricuspid regurgitant jet (RVSP = 4 × V² + RA pressure). Transoesophageal echo adds inferior-rim visualisation for ASD and intra-procedural guidance for device closure.^[1][2]

Cardiac MRI is the gold standard for the right ventricle and great vessels — RV volumes, mass and function that TTE struggles with given the odd geometry — and for quantifying shunts (Qp:Qs by flow mapping). Indications: any moderate-or-greater lesion, repaired-TOF surveillance, systemic RV, coarctation anatomy and gradient, and suspected PAPVR or sinus venosus ASD. Cardiac CT is reserved for coronary anatomy pre-operatively, pulmonary venous anatomy, where MRI is contraindicated, and stent surveillance after coarctation stenting.^[1]

Cardiac catheterisation is mandatory before any shunt closure where PVR is in doubt. It measures pulmonary artery pressure, PVR in Wood units, the PVR/SVR ratio, Qp:Qs, and pulmonary vasoreactivity (inhaled nitric oxide is the most widely used agent in ESC 2020). For ASD, vasoreactivity testing is not recommended to decide closure once PVR is 5 WU or more. The ESC 2020 ASD rule: PVR under 5 Wood units — closure has been shown to be safe; PVR of 5 WU or more — do not close completely; vasoreactivity testing is not recommended to decide ASD closure at PVR of 5 WU or more.^[1]

Cardiopulmonary exercise testing carries powerful prognostic weight in ACHD and helps time intervention and transplant referral. In a 335-patient ACHD cohort, peak VO2 was reduced to chronic-heart-failure levels (lowest of all subgroups in Eisenmenger patients) and independently predicted hospitalisation or death, so a formal CPET — not a routine exercise ECG, which desaturation makes uninterpretable in cyanotic disease — is the functional test of choice. Bloods: full blood count for secondary erythrocytosis (with iron studies — iron deficiency is common and harmful); renal and liver function for hepatorenal congestion; BNP or NT-proBNP trends; urate; coagulation (deranged in Fontan and Eisenmenger); and a pregnancy test in any woman of reproductive age before you image her.^[1][7]

The three emergencies the general physician mishandles

Most ACHD patients are not in resuscitation — but three scenarios are time-critical, and the general physician gets them wrong. They are Eisenmenger haemoptysis, atrial arrhythmia in cyanotic disease, and right-heart failure in the systemic RV.^[1]

Eisenmenger haemoptysis

The single most-feared complication of the syndrome and a leading cause of death — rupture of dilated bronchial collaterals, or in situ pulmonary artery thrombosis with distal infarction and haemorrhage.^[1]

Immediate management:^[1]

• Sit the patient upright, leaning toward the bleeding side if it is lateralised, to protect the other lung.
• High-flow oxygen to keep SpO2 in the patient's usual range — do not chase normoxia; their baseline may be 75–85%, and sudden over-oxygenation worsens pulmonary vasoconstriction mismatch.
• Avoid over-resuscitation — small-volume crystalloid only; fluid overload worsens RV failure.
• Cautious correction of coagulopathy — Eisenmenger is a mixed bleeding-and-thrombotic state; FFP and platelets only if bleeding is severe; avoid antifibrinolytics if thrombotic risk is high.
• Bronchial artery embolisation (interventional radiology) is the definitive acute treatment for localised bleeding.
• Contact the ACHD team immediately and arrange transfer. ^[1]

Avoid:^[1]

• Anticoagulation unless there is a clear concurrent indication.
• Vasopressors that raise PVR (high-dose noradrenaline) — prefer agents that do not raise pulmonary pressures.
• Sudden vasodilatation, which worsens the R-to-L shunt. ^[1]

Atrial arrhythmia in cyanotic ACHD

Atrial flutter or fibrillation in Eisenmenger or repaired TOF is haemodynamically dangerous because the right ventricle is preload-dependent.^[1]

• AVN-blocking drugs — beta-blockers, calcium-channel blockers, digoxin — are dangerous. The right ventricle in cyanotic or repaired congenital disease is preload-dependent, and slowing AV nodal conduction can permit rapidly conducted atrial flutter with cardiovascular collapse.
• Preferred management: synchronised DC cardioversion if unstable; intravenous amiodarone if stable; anticoagulate. New-onset sustained atrial flutter or fibrillation is a well-recognised late complication of repaired TOF, in which pulmonary and tricuspid regurgitation are the dominant haemodynamic lesions.
• Seek expert EP input early — catheter ablation is effective and preferred for these congenital atrial arrhythmias. ^[1][8]

Right-heart failure and systemic RV decompensation

• Intravenous loop diuretic (furosemide) with a potassium-sparing adjunct where needed, and renal-function and electrolyte monitoring.^[1]
• Aldosterone antagonism (spironolactone) is commonly added for diuretic synergy.
• ACE-inhibitors and beta-blockers have NOT shown the mortality benefit in systemic-RV or RV failure that they show in LV failure — use cautiously, low dose, slow titration.
• Avoid pure afterload reducers that drop SVR and worsen the R-to-L shunt in Eisenmenger.
• In Eisenmenger or PAH specifically, move to targeted PAH therapy (below).

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Endocarditis prophylaxis — only these patients, and the regimen

Prophylaxis is restricted (NICE, ESC and AHA all converge) to the highest-risk cardiac lesions undergoing high-risk dental procedures — gum and periapical manipulation, or oral mucosal incision.^[1][2]

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Closure, coarctation, the pulmonary valve, and the drug you can still give

Definitive management in ACHD is four jobs: close correctable shunts and obstructions while physiology is still reversible, give targeted PAH therapy to Eisenmenger, intervene on valves and conduits in repaired lesions, and refer for transplantation at end-stage.^[1][2]

Step 1 — Secundum ASD closure

Closure is indicated for any of:^[1][2]

• A symptomatic secundum ASD (dyspnoea, atrial arrhythmia, paradoxical embolism), regardless of shunt size.
• An asymptomatic ASD with right-heart enlargement on imaging and PVR under 5 Wood units.
• Right-heart enlargement on imaging, even if asymptomatic. ^[1]

Percutaneous device closure (Amplatzer Septal Occluder) is preferred for secundum ASD if all of:^[1]

• Stretched diameter 38 mm or less.
• Sufficient rim of 5 mm except towards the aorta (ESC 2020 morphology rule; this is feasible in about 80% of secundum defects).
• No other cardiac surgery required. ^[1]

Surgical closure (direct suture or pericardial or PTFE patch) is preferred for primum, sinus venosus and coronary sinus defects (these cannot be device-closed), for secundum ASD with deficient rims or very large size or associated anomalies (PAPVR, cleft mitral valve, severe TR), and is contraindicated in Eisenmenger physiology.^[1]

After device closure, a period of antiplatelet therapy and endocarditis precautions is standard practice, with periprocedural anticoagulation managed by the interventional team. Complications are rare — device embolisation, transient atrial arrhythmia, and pericardial effusion or tamponade (device erosion is an emergency), and headache (stop the antiplatelet if it is migraine-like).^[1]

Step 2 — Coarctation intervention

Indications:^[1][5]

• Catheter peak-to-peak gradient of 20 mmHg or more (haemodynamically significant CoA in the absence of well-developed collaterals), OR a systolic arm-to-leg blood-pressure gradient of 20 mmHg or more, OR
• Hypertension uncontrolled on three drugs with anatomical coarctation on imaging (any gradient), OR
• Aneurysm formation at the repair site, OR
• Re-coarctation after previous surgery with a significant gradient. ^[1]

Stenting (percutaneous, covered stent preferred) is first-line for native or recurrent adult coarctation with suitable anatomy — lower complication rate than surgery, shorter stay, equally effective gradient reduction. Surgical repair (resection with end-to-end anastomosis, interposition graft, or extra-anatomic bypass) is reserved for long-segment coarctation, an aneurysm not amenable to stent, or co-existing arch disease needing surgery.^[1]

Afterwards: lifelong surveillance for re-coarctation, aneurysm at the repair site, and refractory hypertension (which can persist despite anatomical cure — the baroreceptors and renovascular system have adapted). MRI or CT annually for 5 years then biennially, beta-blockade as first-line antihypertensive (renin-angiotensin activation is blunted), with an ACE-inhibitor if residual hypertension.^[1]

Step 3 — Pulmonary valve replacement in repaired TOF

Indications for PVR (per contemporary guidelines, which use MRI-based RV volumetric cut-offs and QRS criteria):^[1][2]

• Symptoms with significant pulmonary regurgitation — arrhythmia, heart failure, exertional intolerance, or syncope, OR
• Severe PR with RV dilatation or falling RV function on cardiac MRI, OR
• A widening QRS on serial ECG — QRS duration and its rate of change were significantly greater in repaired-TOF patients who developed sustained VT or died suddenly, and restoring pulmonary valve function may reduce sudden-death risk, OR
• Sustained ventricular arrhythmia. ^[1][8]

Percutaneous PVR (Melody valve, Sapien XT or Apollo) is preferred where RVOT and pulmonary artery anatomy suits it (a conduit or bioprosthetic valve already in place) — it preserves the surgical option and carries lower operative risk. Surgical PVR is preferred for a native RVOT unsuitable for a percutaneous valve, for concomitant lesions needing surgery (residual VSD, severe TR, aortic root dilatation), or for a very large RVOT. At surgery, tricuspid repair, atrial-flutter ablation (right atrial maze), VSD patch revision and PFO or ASD closure are all considered.^[1]

Step 4 — Eisenmenger medical therapy

Closure of the defect is contraindicated. Medical management extends life and improves symptoms.^[1][3][6]

Targeted PAH therapy is the cornerstone:^[1]

• Bosentan (dual endothelin-receptor antagonist) — the one drug with randomised evidence in Eisenmenger: in BREATHE-5, in WHO functional class III patients, bosentan reduced pulmonary vascular resistance index (−472.0 dyne·s·cm⁻⁵) and mean pulmonary artery pressure (−5.5 mmHg) and increased 6-minute-walk distance (placebo-corrected 53.1 m) without worsening oxygen saturation (placebo-corrected pulse oximetry +1.0%). Dose titration and liver-function monitoring follow specialist protocols; avoid in pregnancy.^[6]
• Sildenafil (PDE-5 inhibitor) — an alternative or add-on; in a small randomised Eisenmenger trial, sildenafil-based combination therapy with ambrisentan was safe and improved NYHA functional class and mean pulmonary artery pressure.^[15]
• Macitentan — dosed at 10 mg once daily in the MAESTRO randomised trial, which did not meet its primary 6-minute-walk endpoint but lowered NT-proBNP versus placebo.^[12]
• Prostacyclin analogues — reserved for advanced disease at specialist centres.

^[1]

Supportive measures:^[1]

• Supplemental oxygen is controversial — use it if it clearly relieves symptoms.
• Anticoagulate selectively — atrial arrhythmia, prior thromboembolism, or a mechanical valve; Eisenmenger is a mixed bleeding-and-thrombotic state, so the decision is individualised. DOACs are not routinely recommended (limited data).
• Do not let the patient become iron-deficient — supplement oral iron if iron studies are low; avoid routine phlebotomy: excessive phlebotomy causes microcytosis (iron deficiency) and paradoxically exacerbates hyperviscosity symptoms.
• Phlebotomy only for moderate-to-severe hyperviscosity symptoms, with concomitant volume replacement — never for a high haemoglobin count alone.^[10]
• Vaccinate — annual influenza, pneumococcal, COVID-19.
• Counsel against pregnancy (reliable contraception is mandatory — pregnancy carries high maternal mortality in Eisenmenger), high-altitude exposure, dehydration, isometric heavy lifting and smoking; keep well-hydrated, especially during illness. ^[1][10]

Heart-lung (or bilateral lung with intracardiac repair) transplantation is the definitive option for end-stage Eisenmenger failing targeted medical therapy; the appropriate timing of lung or heart-lung transplantation is part of specialist Eisenmenger care, which is why these patients need tertiary-centre follow-up from the outset.^[10]

Step 5 — The rest, lesion by lesion

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The repaired patients, lesion by lesion — what comes back, and when

Knowing the type of ASD decides whether a device can ever be used, and knowing the repair decides what to watch for.^[1][2]

ASD types — and why the type matters

• Secundum ASD (75%) — defect in the fossa ovalis; percutaneous device closure is the default if the rims are adequate.
• Primum ASD (15–20%) — part of partial AVSD, with a cleft anterior mitral leaflet and mitral regurgitation. Surgical closure with mitral repair is mandatory; never device closure.
• Sinus venosus ASD (5–10%) — at the SVC or IVC orifice; commonly with PAPVR (right upper pulmonary vein draining to the SVC). Surgical, often with a Warden procedure to redirect the anomalous vein.
• Coronary sinus ASD (rare) — an unroofed coronary sinus, often with a persistent left SVC. Surgical closure.

^{[1] [5]}

Repaired Tetralogy of Fallot — long-term follow-up

Every repaired TOF patient needs lifelong ACHD specialist follow-up: annual ECG (QRS duration trend), echo (RV size and function, PR, residual lesions), clinical review; cardiac MRI every 1–3 years for RV volumes and PR fraction (this drives the timing of PVR); Holter monitoring for sustained VT in anyone with a QRS over 180 ms, syncope or symptoms; CPET for prognostic stratification; aortic surveillance; and endocarditis prophylaxis only in the high-risk categories. Pregnancy in repaired TOF is generally well-tolerated if saturation is normal, there are no significant residual lesions, RV function is acceptable, and there is no arrhythmia — but severe PR with RV dilatation raises the risk, so consider PVR before pregnancy.^[1]

Coarctation — surgical types and late complications

Historical techniques: resection with end-to-end anastomosis (commonest, lowest recurrence), subclavian flap angioplasty, interposition graft, and patch aortoplasty (highest aneurysm risk, now avoided). Late complications:^[1][5]

• Re-coarctation — more common with some historical techniques (subclavian flap and patch).
• Aneurysm at the repair site — particularly after patch aortoplasty; surveillance CT or MRI.
• Persistent or recurrent hypertension — even after anatomical cure.
• Paraplegia (rare, from spinal cord ischaemia) — a risk at the original surgery and at re-operation.
• Aortic dissection or rupture — a lifelong risk. ^[1]

Ebstein anomaly — the Cone repair

The Cone reconstruction (Da Silva) is the modern procedure of choice — it mobilises the functional tricuspid leaflets into a competent cone at the true annulus. Indications are symptoms, cyanosis, severe TR, arrhythmia unresponsive to ablation, or paradoxical embolism. WPW pathways are typically ablated before or at surgery. Pregnancy is generally well-tolerated in milder forms.^[1]

Fontan circulation — the failing Fontan

The Fontan (for single-ventricle physiology — tricuspid atresia, hypoplastic left heart, double-inlet LV) connects systemic venous return directly to the pulmonary arteries, bypassing the right heart. Late complications in adults:^[1]

• Atrial arrhythmia (very common — the Fontan atrium is large and scarred).
• Thrombosis (Fontan pathway, pulmonary embolism) — a recognised major complication; most centres use lifelong antithrombotic therapy (antiplatelet or anticoagulant).^[13]
• Protein-losing enteropathy (PLE) — protein lost into the gut from chronically raised venous pressure; oedema, ascites, chronic diarrhoea, hypoalbuminaemia, hypocalcaemia. Management is multidisciplinary and stepwise, and ultimately transplantation.
• Plastic bronchitis — rare but characteristic cast-forming airway obstruction.
• Fontan-associated liver disease (FALD) — chronic venous congestion progressing to fibrosis, cirrhosis and hepatocellular carcinoma risk; needs structured hepatology surveillance.
• Renal dysfunction from chronic venous congestion.
• Cyanosis from Fontan fenestration or veno-venous collaterals. ^[1][13]

Transposition of the great arteries

d-TGA (aorta from the RV, pulmonary artery from the LV — parallel circulations, incompatible with life without shunting) is treated by:^[1]

• Arterial switch (Jatene, modern standard) — coronary arteries are re-implanted. Late complications: supravalvular pulmonary stenosis, coronary ostial stenosis, neo-aortic root dilatation.
• Mustard or Senning (atrial switch, historical) — baffles redirect venous return at atrial level. Late complications: systemic RV failure, atrial arrhythmia, baffle obstruction or leak, sinus node dysfunction. Pregnancy is mWHO III.
• ccTGA (congenitally-corrected: AV and ventriculo-arterial discordance, a 'double switch') — the circulation is corrected but the morphological RV pumps the systemic circulation. Late complications are those of the systemic RV; complete heart block is common. ^[1]

Bicuspid aortic valve and aortopathy

BAV is the commonest congenital valvar lesion; associated aortopathy hits the ascending aorta and root. ESC 2020 lists severe aortic dilatation (Marfan over 45 mm; BAV over 50 mm) as mWHO IV. Every coarctation needs a BAV screen and every BAV needs an aortic and coarctation screen.^[1]

Pregnancy, contraception, and non-cardiac surgery — the highest-stakes counselling

Pre-conception counselling is non-negotiable for any woman with ACHD; an unplanned pregnancy in the wrong lesion kills. The 2018 ESC pregnancy guideline uses the modified WHO (mWHO) classification as its core decision tool.^[4]

^[1]

Two named scoring systems (CARPREG II and ZAHARA) also exist, assigning weighted points to findings and stratifying maternal cardiac risk — but the ESC prefers mWHO. In the UK the 2019 NICE guideline (NG121) and the Maternal Cardiology in Pregnancy service specification require a joint obstetric–cardiology clinic for mWHO III–IV patients, planned delivery at a level 3 maternal medicine centre, and termination offered for mWHO IV.^[4]

In practice:^[1]

• mWHO I–II (small ASD, repaired coarctation, mild PS, repaired ASD, VSD, PDA without residual, repaired TOF with no significant residual): pregnancy usually well-tolerated, shared obstetric–cardiology care, vaginal delivery preferred.
• mWHO II–III (systemic RV, Fontan, repaired cyanotic without residual cyanosis, mechanical valve): pregnancy possible with intensive monitoring; deliver at a level 3 maternal medicine centre; consider low-dose aspirin in Fontan for placental flow and carefully managed LMWH in a mechanical valve.
• mWHO III (severe regurgitant lesions, moderate stenotic lesions, systemic RV EF 40–50%): high risk; counsel against pregnancy or intervene first (BAV for AS, valvuloplasty, PVR for repaired TOF).
• mWHO IV — pregnancy contraindicated; termination offered. ^[1]

Mechanical valve and pregnancy — the anticoagulation dance

Mechanical valves need lifelong anticoagulation, which makes pregnancy high-risk.^[4]

• Warfarin is fetotoxic — in the ROPAC registry, vitamin-K-antagonist use in the first trimester was associated with a higher rate of miscarriage (28.6% versus 9.2% on heparin) and late fetal death (7.1% versus 0.7%).^[11]
• LMWH does not cross the placenta but is less reliable in mechanical valves — valve thrombosis complicated 4.7% of mechanical-valve pregnancies, and every first-trimester valve thrombosis in ROPAC occurred in a woman switched to some form of heparin.^[11]
• Both strategies are a trade-off — only 58% of mechanical-valve pregnancies in ROPAC were uncomplicated with a live birth, and 23.1% had a haemorrhagic event — so dosing, monitoring targets and the peripartum switch back to heparin are specialist decisions at a high-risk pregnancy centre.^[11]
• DOACs are contraindicated in pregnancy and in mechanical valves.

^[1]

Contraception in ACHD

Safe, effective contraception is part of ACHD care — an unplanned pregnancy in mWHO IV can be fatal.^[1]

• Highly effective: a copper or levonorgestrel IUD (Mirena) is first-line for almost all ACHD patients, including cyanotic disease, Fontan and pulmonary hypertension.
• Progestogen-only pill — safe in all.
• Depot medroxyprogesterone — generally safe; a theoretical bone-density concern with long use.
• Combined oral contraceptive (oestrogen-containing) is contraindicated in cyanotic disease: ESC 2020 lists oestrogen-containing contraception among exposures to avoid in cyanotic CHD.
• Barrier methods alone are inadequate (high failure rate); sterilisation carries anaesthetic risk in complex ACHD, so partner vasectomy is simpler. ^[1]

ACHD and non-cardiac surgery

Risk-stratify by lesion and physiology. High-risk features: cyanotic disease, pulmonary hypertension, heart failure, systemic RV, Fontan, severe obstructive lesions. Principles: avoid dehydration (it maintains preload and prevents a viscosity crisis in cyanotic disease); strict air-bubble avoidance in every IV line (paradoxical embolism); avoid sudden vasodilatation (epidural, vasodilators) in cyanotic or Eisenmenger physiology (it worsens the shunt); maintain SVR in left-sided obstruction (severe AS, severe coarctation); bridge anticoagulation for mechanical valves; and balance VTE prophylaxis against bleeding risk. In the elderly, expect late-presenting unrepaired ASD, late sequelae of repair decades on, and the compounding comorbidity of CABG, hypertension and diabetes — multidisciplinary input is essential.^[1]

Complications and the traps that hurt patients

Most ACHD harm is preventable and iatrogenic — the pitfalls are the highest-yield safety content in the topic.^[1]

The complications of untreated or late-presenting disease: pulmonary vascular disease and irreversible Eisenmenger; heart failure (systemic RV, or RV failure from chronic volume overload in ASD and repaired TOF); arrhythmia (atrial fibrillation and flutter from RA dilatation and scars; VT and sudden death in repaired TOF with a wide QRS); paradoxical embolism (stroke, TIA, visceral abscess); endocarditis (bicuspid valve, VSD, PDA); haemoptysis in Eisenmenger; aortic dissection or rupture (coarctation, BAV aortopathy, Turner); protein-losing enteropathy, plastic bronchitis and FALD in Fontan; and the secondary-erythrocytosis cluster — hyperviscosity, gout, iron deficiency from iatrogenic phlebotomy, and a bleeding tendency.^[1]

^[1]

Prognosis and disposition — who goes where, and for how long

Prognosis spans near-normal life expectancy to markedly reduced survival, and the disposition rule is simple: lifelong specialist follow-up for all but the simplest lesions. Small unrepaired ASD, mild PS and well-repaired isolated lesions behave almost normally; Eisenmenger, a failing Fontan and systemic RV failure do not.^[1]

Eisenmenger: most patients survive 20 to 30 years from the syndrome as described in the 1998 adult series; pregnancy and non-cardiac surgery carry high mortality. ESC 2020: bosentan improves 6-minute walk and lowers PVR at 16 weeks in WHO functional class III, without a well-documented mortality effect.^[10][1][6]

Secundum ASD closure (device or surgery) has excellent outcomes in properly selected patients — RV dimensions regress and symptoms improve, with outcome best when repair is before age 25. ESC 2020: in elderly patients not suitable for device closure, carefully weigh surgical risk against potential benefit; no randomised trial of ASD closure versus medical therapy in minimally symptomatic adults over 50 was identified on PubMed.^[1]

Coarctation needs lifelong surveillance for re-coarctation, aneurysm and persistent hypertension; a systolic arm-to-leg gradient of 20 mmHg or more indicates significant coarctation, as does a catheter peak-to-peak gradient of 20 mmHg or more. Repaired TOF: QRS duration of 180 ms or more was 100% sensitive for documented sustained VT and sudden death in the 1995 Gatzoulis series; ESC 2020 lists QRS duration of 180 ms or more as a possible risk factor for ventricular arrhythmia and sudden death, and notes that RV end-systolic index over 80 mL/m² and end-diastolic index over 160 mL/m² make later normalisation of RV size after pulmonary valve replacement unlikely (the cut-off may not correlate with clinical benefit). Fontan fails through arrhythmia, thrombosis, protein-losing enteropathy and Fontan-associated liver disease — adult CHD now surpasses the paediatric population.^[1][16][13]

Disposition: lifelong ACHD specialist follow-up is the rule for all but the simplest lesions, its intensity set by the AP class. Transition clinics from paediatric to adult services at age 16 are the single most important system intervention — loss to follow-up at transition is a well-documented cause of preventable late decompensation, particularly in repaired TOF and Fontan.^[1]

Evidence, guidelines, and regional deltas

^{[1] [6] [1]}

In India the epidemiology is substantially different. Late presentation of unrepaired CHD (especially VSD, PDA and TOF) is far more common than in the West because of cost barriers and limited paediatric surgical capacity — so Eisenmenger is over-represented in Indian ACHD clinics. Rheumatic heart disease coexists and is frequently mistaken for congenital mitral stenosis; every young Indian patient with 'mitral stenosis' deserves a careful rheumatic-fever history and an echocardiographic search for commissural fusion. The ICMR National Rheumatic Fever or Rheumatic Heart Disease Registry underpins the public-health response, and cost and access barriers mean percutaneous ASD closure, PVR and heart-lung transplantation reach only a fraction of those who need them.^[1]

In the UK the NHS specifies ACHD specialist centres (the four 'Level 1' services in England: Birmingham, Liverpool, London — Royal Brompton, Guy's, Great Ormond Street, Barts — and Sheffield or Leeds) for all moderate and great complexity disease, with shared care at local level. Transition clinics from paediatric cardiology are mandatory at 16; pregnancy at mWHO III–IV is managed in level 3 maternal medicine centres under NICE NG121 and the Maternal Cardiology service specification.^[1]

The mantra, and the mnemonic

The mantra: Spot the shunt early, close it before the lung turns to concrete — and once Eisenmenger arrives, never close, never let her get pregnant, amiodarone not beta-blocker, bosentan with specialist liver-function monitoring.^[1][6]

Ward-round test — four stems, thirty seconds each

Stem 1 — the young man with the fixed split S2 (answer)ShowHide

A 28-year-old electrician, saturation 98%, a widely fixed split S2, an RV heave and an incomplete RBBB on the ECG. What is the lesion, what confirms it, and when do you close? Model: This is a secundum ASD — the triad of wide fixed split S2, pulmonary flow murmur and RV heave with RSR' in V1 is pathognomonic. Confirm with transthoracic echocardiography (lesion, shunt direction, Qp:Qs, rims) and cardiac catheterisation only if PVR is in doubt. Close it — percutaneous device if the stretched diameter is 38 mm or less with a sufficient rim of 5 mm except towards the aorta — when there is RV enlargement and the PVR is under 5 Wood units. Primum, sinus venosus and coronary sinus ASDs go to surgery, never to a device.^[1]

Stem 2 — the cyanotic woman who wants a baby (answer)ShowHide

A 30-year-old with a childhood VSD never repaired is now clubbed and cyanotic, saturation 82%, and asks about pregnancy. What do you tell her, and what drug do you start? Model: This is Eisenmenger syndrome — the shunt has reversed. Closing the defect is absolutely contraindicated, and pregnancy is mWHO IV and contraindicated — pooled maternal mortality for pregnancy in pulmonary hypertension is 7.6% (4583 patients); 93% of deaths were postpartum; Eisenmenger is associated with higher mortality. Offer reliable contraception (a levonorgestrel IUD) and termination counselling if she is already pregnant. Start bosentan — BREATHE-5 showed improved exercise capacity and haemodynamics without worsening oxygen saturation — with liver-function monitoring, and add a PDE-5 inhibitor as needed. Never phlebotomise for the haematocrit alone; replete iron.^[1][6][14]

Stem 3 — the repaired-TOF patient who goes into atrial flutter (answer)ShowHide

A 40-year-old with repaired Tetralogy of Fallot, QRS 190 ms, develops atrial flutter at 150/min and is hypotensive. The registrar reaches for IV metoprolol. What is the trap, and what do you do instead? Model: The trap is the AVN-blocker. In repaired-TOF and cyanotic atrial arrhythmia the RV is preload-dependent, and slowing the node can permit rapidly conducted atrial flutter with cardiovascular collapse. Because the patient is unstable, synchronised DC cardiovert. If stable, the answer would be IV amiodarone plus anticoagulation and early EP referral for ablation. His widening QRS (190 ms) also flags arrhythmia and sudden-death risk — QRS duration and its rate of change were significantly greater in repaired-TOF patients who developed sustained VT or died suddenly — so refer for pulmonary valve replacement and an EP work-up.^[1][8]

Stem 4 — differential cyanosis and the figure-of-3 sign (answer)ShowHide

A 25-year-old man has upper-limb blood pressure of 160/95, radio-femoral delay, rib notching on the chest X-ray, and a foot saturation 8% lower than his hand. What two lesions are in play, and what must you screen for? Model: The figure-of-3 sign and rib notching with radio-femoral delay is coarctation of the aorta; the differential cyanosis (pre-ductal hand pink, post-ductal foot blue) signals a PDA that has gone Eisenmenger. Two screens are non-negotiable: a bicuspid aortic valve (every coarctation needs one, and vice versa) and Turner syndrome in any female. Measure four-limb blood pressure and image with MRI or CT for the gradient, anatomy and aneurysm; stenting is first-line for suitable adult coarctation.^[1][5]

References16ShowHide

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2. [2]Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines Circulation, 2019.PMID 30586767
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7. [7]Diller GP, Dimopoulos K, Okonko D, et al. Exercise intolerance in adult congenital heart disease: comparative severity, correlates, and prognostic implication Circulation, 2005.PMID 16061735
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11. [11]van Hagen IM, Roos-Hesselink JW, Ruys TP, et al. Pregnancy in Women With a Mechanical Heart Valve: Data of the European Society of Cardiology Registry of Pregnancy and Cardiac Disease (ROPAC) Circulation, 2015.PMID 26100109
12. [12]Gatzoulis MA, Landzberg M, Beghetti M, et al. Evaluation of Macitentan in Patients With Eisenmenger Syndrome Circulation, 2019.PMID 30586694
13. [13]Venkatesh P, Gao H, Abudayyeh I, et al. Contemporary Management of the Failing Fontan J Clin Med, 2024.PMID 38892760
14. [14]El Iskandarani M, Golamari R, Bettinotti BGM, et al. Pregnancy in patients with pulmonary hypertension: a systematic review and meta-analysis with meta-regression J Thorac Dis, 2025.PMID 40809209
15. [15]Mohammed S, Vijayvergiya R, Malhotra S, et al. A randomized, double-blind, placebo-controlled study to evaluate sildenafil, ambrisentan combination therapy in pulmonary hypertension, particularly of Eisenmenger syndrome Indian Heart J, 2021.PMID 34627582
16. [16]Gatzoulis MA, Till JA, Somerville J, Redington AN Mechanoelectrical interaction in tetralogy of Fallot. QRS prolongation relates to right ventricular size and predicts malignant ventricular arrhythmias and sudden death Circulation, 1995.PMID 7600655