Snapshot A 50-year-old man presents to his cardiologist for dyspnea on exertion, fatigue, and swollen legs. He reports that these symptoms have worsened over the past few weeks. He has a past medical history of rheumatic fever when he was a young adult. He is currently taking no medications. On physical exam, he is noted to have a hoarse voice. On cardiac exam, there is a diastolic rumble following an opening snap and peripheral edema. An echo reveals thickened mitral valve leaflets. Introduction Clinical definition a valvular disorder characterized by thickened mitral valve leaflets and fused leaflet tips Associated conditions atrial fibrillation Epidemiology Demographics women > men Risk factors rheumatic fever Etiology Rheumatic fever (most common) Congenital defect (rare) Infective endocarditis Pathogenesis inflammation and scarring from rheumatic fever or other disease process causes thickening of the mitral valve leaflets leaflets are thickened and tips are fused, causing an abrupt halt in leaflet motion after diastole manifests clinically as opening snap impedes left ventricular filling left atrium (LA) pressure > left ventricular pressure during diastole ↑ LA pressure causes pulmonary congestion over time, can result in LA dilatation and right ventricular failure Presentation Symptoms signs of heart failure dyspnea paroxysmal nocturnal dyspnea fatigue orthopnea hemoptysis hoarseness enlarged left atrium compresses the recurrent laryngeal nerve Physical exam pulmonary rales cardiac exam opening snap after S2 diastolic rumble may have atrial fibrillation ↓ pulse pressure right-sided heart failure hepatomegaly ascites peripheral edema Imaging Chest radiography indication initial test findings left atrial enlargement posterior displacement of the esophagus straightening of the left heart border increased pulmonary vasculature Echocardiography indication diagnostic test findings thickening of mitral valve leaflets ↓ area of valve leaflets left atrial enlargement Studies Electrocardiogram indication for all patients findings right ventricular hypertrophy may have atrial fibrillation Making the diagnosis based on clinical presentation and imaging Differential Aortic regurgitation distinguishing factor no opening snap in diastolic murmur no hoarseness on clinical presentation Atrial myxoma distinguishing factor mass seen on imaging Treatment Management approach standard therapy for atrial fibrillation in patients with the arrhythmia Conservative salt restriction indication for all patients Medical diuretics indication patients with heart failure β-blockers indication patients with exercise intolerance Operative balloon valvuloplasty or valve replacement indications patients refractory to medical therapy severe stenosis Complications Infective endocarditis Heart failure Pulmonary hypertension
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