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A 28-year-old man presents to the outpatient department with exertional dyspnoea progressing over six months and intermittent palpitations described as a "pounding" heartbeat. On examination his pulse is 96/min, bounding and collapsing; blood pressure 165/45 mmHg; the apex beat is displaced to the 6th intercostal space in the anterior axillary line and is hyperdynamic. A high-pitched early-diastolic decrescendo blowing murmur is audible at the left 3rd intercostal space close to the sternum, best heard with the patient sitting forward and breath held in expiration. A low-pitched mid-diastolic rumble is also heard at the apex with no opening snap.
Questions
a) What is the most likely diagnosis, and name the apical murmur? (2 marks)
Chronic severe aortic regurgitation, supported by the wide pulse pressure (165/45), water-hammer (Corrigan) pulse, hyperdynamic displaced apex, and the early-diastolic decrescendo murmur at Erb point. The apical mid-diastolic rumble without an opening snap is the Austin Flint murmur — classically taught as the regurgitant jet striking the anterior mitral leaflet and producing a functional mitral stenosis, though the mechanistic evidence attributes it to the regurgitant jet impinging on the LV endocardium rather than to mitral valve narrowing.[3]
b) List four peripheral signs of severe aortic regurgitation and describe one. (3 marks)
- Corrigan sign — water-hammer/collapsing pulse with visible carotid pulsations.
- de Musset sign — head bobbing with each heartbeat.
- Quincke sign — pulsation visible in the nail beds with light pressure.
- Traube sign (pistol-shot) — booming systolic and diastolic sounds over the femoral arteries.
- Duroziez sign — to-and-fro murmur over the femoral artery with proximal/distal compression.
- Hill sign — popliteal systolic BP exceeds brachial systolic BP by over 20 mmHg, with a wider gap in more severe regurgitation.[4]
(Describe one: e.g., Traube — booming systolic and diastolic femoral sounds from the wide pulse pressure transmitted to the peripheral arteries. Of the eponyms, only the Austin Flint murmur, Corrigan pulse, Duroziez sign and Hill sign have real supporting literature, and apart from Hill their specificity is poor.)[5]
c) Outline the investigations and state the key echo severity parameters. (3 marks)
- ECG — LVH with voltage criteria (Sokolow-Lyon) and LV strain pattern (ST depression, T inversion in lateral leads).
- Chest X-ray — cardiomegaly with the apex displaced down and out (LV volume overload), unfolded/dilated ascending aorta.
- Echocardiography (transthoracic) — first line and central: mechanism (leaflet vs root), severity, LV size and function.[1]
Key severe AR echo parameters: jet/LVOT-width ratio 65 percent or above; vena contracta over 6 mm; regurgitant volume 60 mL/beat or above; regurgitant fraction 50 percent or above; EROA 0.30 cm squared or above; pressure half-time under 200 ms; holodiastolic flow reversal in the proximal abdominal aorta. Cardiac MRI is the gold standard for LV volumes/regurgitant fraction if echo is discordant.[1][2]
d) What are the surgical indications, and why is an intra-aortic balloon pump contraindicated? (2 marks)
Surgery (AVR) is indicated when: symptomatic severe AR, whatever the LV function; OR asymptomatic severe AR with LV systolic dysfunction — EF 55 percent or below for ACC/AHA 2020, 50 percent or below for ESC/EACTS 2021; OR asymptomatic severe AR with LV end-systolic diameter over 50 mm or indexed over 25 mm/m squared (Class I for ESC, Class IIa for ACC/AHA while the EF is still above 55 percent); OR severe AR in a patient already undergoing cardiac or aortic surgery. An IABP inflates in diastole and would augment regurgitant backflow into the LV, worsening pulmonary oedema — it is contraindicated in anything more than trivial AR.[1][2]
References5ShowHide
- [1]Otto CM, Nishimura RA, Bonow RO, et al. 2020 ACC/AHA Guideline for the Management of Patients With Valvular Heart Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines J Am Coll Cardiol, 2021.PMID 33342587
- [2]Vahanian A, Beyersdorf F, Praz F, et al. 2021 ESC/EACTS Guidelines for the management of valvular heart disease Eur Heart J, 2022.PMID 34453165
- [3]Landzberg JS, Pflugfelder PW, Cassidy MM, et al. Etiology of the Austin Flint murmur J Am Coll Cardiol, 1992.PMID 1634679
- [4]Sapira JD Quincke, de Musset, Duroziez, and Hill: some aortic regurgitations South Med J, 1981.PMID 7013091
- [5]Babu AN, Kymes SM, Carpenter Fryer SM Eponyms and the diagnosis of aortic regurgitation: what says the evidence? Ann Intern Med, 2003.PMID 12729428