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A 22-year-old male competitive university rower is brought to the emergency department after collapsing with loss of consciousness during a 2,000-metre ergometer trial. On recovery he describes three months of exertional palpitations. Examination reveals a raised jugular venous pressure with a prominent a-wave and a soft holosystolic murmur at the lower left sternal border that is louder on inspiration. His 12-lead ECG shows T-wave inversion in V1-V3 without right bundle branch block and a small deflection at the end of the QRS complex in V1-V3. A 24-hour Holter records frequent premature ventricular contractions of LBBB morphology with superior axis and one run of non-sustained ventricular tachycardia. Transthoracic echocardiogram shows right ventricular regional akinesia of the free wall and a parasternal short-axis RVOT diameter of 38 mm with RV fractional area change of 30%.
Questions
a) What is the most likely diagnosis, and what three findings on the ECG/Holter/echo support it? (2 marks)
Likely diagnosis: arrhythmogenic right ventricular cardiomyopathy / arrhythmogenic cardiomyopathy (ARVC/ACM). Supporting findings: (i) epsilon wave + T-wave inversion V1-V3 without RBBB on 12-lead ECG; (ii) LBBB-superior-axis PVCs and non-sustained VT on Holter; (iii) RV regional akinesia with RVOT dilation (PSAX 38 mm) and RV fractional area change 30% (≤ 33%) on echo — each of these is a major Task Force criterion.[1]
b) Outline the confirmatory diagnostic strategy. (3 marks)
Apply the 2010 Modified Task Force Criteria across six categories — imaging (echo, CMR, angiography), tissue characterisation (biopsy), repolarisation, depolarisation/conduction, arrhythmia, and family history. Definite = 2 major, or 1 major + 2 minor, or 4 minor from different categories; borderline = 1 major + 1 minor, or 3 minor; possible = 1 major, or 2 minor. Here, request cardiac MRI read against the 2020 Padua criteria (regional RV wall-motion abnormality plus global RV dilatation or systolic dysfunction judged by imaging-specific nomograms, with late gadolinium enhancement for tissue characterisation and a parallel set of LV criteria), signal-averaged ECG for late potentials, endomyocardial biopsy only if imaging is equivocal (residual myocytes below 60% by morphometry with fibrous replacement of the RV free wall = major), and genetic testing for desmosomal (PKP2, DSP, DSG2, DSC2, JUP) and non-desmosomal genes. Cascade screening of first-degree relatives with ECG, ambulatory monitoring, echo and CMR — from about age 10 to 12 and repeated every 1 to 3 years — is essential.[1][3][4]
c) Describe the stepwise management of this patient. (3 marks)
(1) Lifestyle restriction — moderate- and high-intensity exercise including competitive sport is not recommended (ESC class III); regular low-to-moderate-intensity activity is encouraged. (2) Pharmacological — beta-blocker first-line in symptomatic patients (the AHA/ACC is the document that names a drug and dose: atenolol 25-100 mg orally once or twice daily, titrated against ambulatory monitoring or exercise testing); amiodarone or sotalol added only for arrhythmic symptoms or to reduce ICD shocks — in the North American ARVC Registry neither beta-blockers nor sotalol were protective, and amiodarone was superior in a small subgroup. (3) ICD — class I after cardiac arrest or ventricular arrhythmia causing haemodynamic instability; here, arrhythmic syncope with structural disease is a class IIa indication. Prefer a subcutaneous ICD when bradycardia pacing, resynchronisation and anti-tachycardia pacing are not anticipated, keeping leads out of a thinned RV free wall. (4) Catheter ablation by a combined endocardial–epicardial approach for drug-refractory recurrent VT or ICD shocks — it lowers arrhythmia burden, it does not replace the device. (5) Counsel on driving restrictions and occupational consequences (commercial pilot/HGV licence forfeited).[2][4][5]
d) List the complications and the prognostic factors that predict adverse outcome. (2 marks)
Complications: sudden cardiac death, recurrent monomorphic VT / VT storm / appropriate ICD shocks, inappropriate ICD shocks, right-heart and biventricular failure, atrial fibrillation (anticoagulate by CHA2DS2-VASc), device-related complications (lead perforation of thinned RV free wall, infection). Adverse-outcome predictors: history of cardiac arrest or sustained VT, arrhythmic syncope, severe RV dysfunction (RV fractional area change ≤ 17% or RVEF ≤ 35%) or LVEF ≤ 35%, high 24-hour PVC count, non-sustained VT, number of leads with T-wave inversion, younger age, male sex, and a high-risk genotype (LMNA, TMEM43, truncating FLNC — 5-10% annual sudden death; PLN, DSP, RBM20 — 3-5%). Express the risk as a category rather than one figure: high risk is above 10% arrhythmic events per year (class I ICD), intermediate 1-10%, low under 1%; reported overall mortality across series ranges from 0.08% to 3.6% per year.[2][4][6]
References6ShowHide
- [1]Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria Circulation, 2010.PMID 20172911
- [2]Zeppenfeld K, Tfelt-Hansen J, de Riva M, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death Eur Heart J, 2022.PMID 36017572
- [3]Corrado D, Perazzolo Marra M, Zorzi A, et al. Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria Int J Cardiol, 2020.PMID 32561223
- [4]Iezzi L, Sorella A, Galanti K, et al. Arrhythmogenic cardiomyopathy diagnosis and management: a systematic review of clinical practice guidelines and recommendations with insights for future research Eur Heart J Qual Care Clin Outcomes, 2025.PMID 40386976
- [5]Marcus GM, Glidden DV, Polonsky B, et al. Efficacy of antiarrhythmic drugs in arrhythmogenic right ventricular cardiomyopathy: a report from the North American ARVC Registry J Am Coll Cardiol, 2009.PMID 19660690
- [6]Corrado D, Basso C, Judge DP Arrhythmogenic Cardiomyopathy Circ Res, 2017.PMID 28912183