Presentation
Good morning, sir. I examined the cardiovascular system of a young woman who is breathless on minimal exertion. She has a malar flush. The pulse is 96 per minute, irregularly irregular and of low volume, with a pulse deficit. Blood pressure is 100/70 mmHg. The JVP is raised 6 cm above the sternal angle. The apex beat is in the fifth left intercostal space in the midclavicular line and is tapping in character. There is a left parasternal heave and a palpable P2. The first heart sound is loud and P2 is accentuated. There is an opening snap shortly after the second sound, followed by a low-pitched, rumbling mid-diastolic murmur localised to the apex, heard best with the bell with her turned to the left in expiration. There are fine crackles at both lung bases, a tender liver 4 cm below the costal margin, and pitting oedema to the mid-shins. I would like to complete my examination by looking for stigmata of infective endocarditis, testing the urine for blood, and asking about pregnancy plans and previous embolic events.
Diagnosis
Mitral stenosis with pulmonary hypertension, atrial fibrillation and congestive cardiac failure, most likely due to chronic rheumatic heart disease.
Differential diagnoses
- Austin Flint murmur of severe aortic regurgitation — collapsing pulse, wide pulse pressure and an early diastolic murmur; no loud S1 or opening snap
- Mitral regurgitation with a diastolic flow murmur — displaced, thrusting apex, soft S1, a dominant pansystolic murmur to the axilla, and a third heart sound
- Carey Coombs murmur — a soft mid-diastolic murmur of acute rheumatic carditis in a febrile child or adolescent with raised inflammatory markers
- Left atrial myxoma — a tumour plop, signs that vary with posture, fever and weight loss, often in sinus rhythm
- Tricuspid stenosis — a diastolic murmur at the lower left sternal edge that increases on inspiration, with giant a waves; usually coexists with mitral disease
- Lutembacher syndrome — mitral stenosis with an atrial septal defect
Investigations
| Test | What you expect or look for |
|---|---|
| ECG | Atrial fibrillation; in sinus rhythm a broad, bifid P wave (P mitrale); right axis deviation and right ventricular hypertrophy with pulmonary hypertension |
| Chest X-ray | Straightened left heart border from a large left atrial appendage, double right heart border, splayed carina, upper lobe venous diversion, Kerley B lines, prominent pulmonary arteries |
| Transthoracic echocardiography | Thickened leaflets with commissural fusion and a "hockey-stick" anterior leaflet; valve area and mean gradient; left atrial size; pulmonary artery systolic pressure; associated mitral or aortic regurgitation |
| Transoesophageal echocardiography | Left atrial appendage thrombus before balloon valvotomy; Wilkins score for valve suitability |
| Full blood count, urea, electrolytes, creatinine | Anaemia that worsens symptoms; baseline before diuretics |
| INR | Baseline and monitoring on warfarin |
| Thyroid function | A second trigger for atrial fibrillation |
| ESR, CRP, antistreptolysin O titre | If rheumatic activity is suspected |
| Blood cultures | If there is fever |
| Pregnancy test | In any woman of childbearing age before drugs or procedures |
Severity (ESC and AHA)
| Measure | Progressive | Severe |
|---|---|---|
| Mitral valve area | More than 1.5 cm² | 1.5 cm² or less (very severe at 1.0 cm² or less) |
| Mean gradient at a normal heart rate | Under 5 mmHg | Usually above 10 mmHg |
| Pulmonary artery systolic pressure | Normal | Often above 50 mmHg |
The normal mitral valve area is 4–6 cm².
Management
Management is multidisciplinary, involving a cardiologist, cardiothoracic surgeon and, if she plans a pregnancy, an obstetrician. I would counsel her on the diagnosis, the need for regular penicillin, anticoagulation and the options for opening the valve.
Non-pharmacological
- Salt restriction and fluid advice while congested
- Avoid strenuous exertion until the valve is treated
- Contraception and pregnancy counselling — a woman with severe stenosis should have the valve treated before conceiving; progestogen-only methods or a copper IUD are preferred to oestrogen-containing pills in atrial fibrillation
- Dental hygiene and regular dental review
- Influenza and pneumococcal vaccination
Pharmacological
- Loop diuretic for congestion, such as furosemide 40 mg daily, adjusted to weight and symptoms
- Rate control with a beta-blocker such as bisoprolol, or digoxin — a slower heart rate lengthens diastole and lets the left atrium empty; a beta-blocker also helps exertional symptoms in sinus rhythm
- Warfarin to an INR of 2–3 for atrial fibrillation, a previous embolism or left atrial thrombus
- Secondary prophylaxis with benzathine penicillin G 1.2 million units IM every 3–4 weeks; with residual valve disease, continue for 10 years after the last attack or until age 40, whichever is longer, and often for life after valve surgery
Surgical and interventional
- Percutaneous balloon mitral commissurotomy for severe, symptomatic stenosis with favourable anatomy — pliable, non-calcified leaflets, no more than mild regurgitation and no left atrial thrombus. It is also the procedure of choice in pregnancy when symptoms persist despite medical treatment
- Surgical commissurotomy or mitral valve replacement when the valve is calcified, the regurgitation is significant, or thrombus persists
- Mechanical versus tissue valve — a mechanical valve lasts but needs lifelong warfarin, which complicates pregnancy; a tissue valve avoids warfarin but degenerates quickly in young patients. See Mechanical mitral valve replacement
Complications and follow-up
- Atrial fibrillation and systemic embolism, including stroke
- Acute pulmonary oedema, especially with the onset of atrial fibrillation, in pregnancy or at delivery
- Pulmonary hypertension and right heart failure with functional tricuspid regurgitation
- Haemoptysis from ruptured bronchial veins
- Hoarseness from compression of the left recurrent laryngeal nerve (Ortner syndrome) and dysphagia from a giant left atrium
- Recurrent rheumatic fever and infective endocarditis
Review in the cardiology clinic every 6–12 months with echocardiography when the stenosis is severe, INR checks at the anticoagulation clinic, and a record of penicillin injections.
Examiner questions
References
- Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson JL, Loscalzo J, et al., eds. Harrison's Principles of Internal Medicine. 22nd ed. New York: McGraw Hill; 2025.
- Vahanian A, Beyersdorf F, Praz F, et al. 2021 ESC/EACTS Guidelines for the management of valvular heart disease. European Heart Journal. 2022;43:561–632.
- Gewitz MH, Baltimore RS, Tani LY, et al. Revision of the Jones criteria for the diagnosis of acute rheumatic fever in the era of Doppler echocardiography. Circulation. 2015;131:1806–18.