Cardiomyopathies — Clinical

Which of the following genetic mutations is most commonly associated with hypertrophic cardiomyopathy?

In restrictive cardiomyopathy, which of the following pathophysiological features is characteristic?

A 52-year-old man from rural Maharashtra presents with progressive dyspnea on exertion for 6 months and orthopnea for 2 weeks. He has a history of recurrent fever and joint pain in his teens. On examination: BP 100/70 mmHg, HR 110/min, JVP elevated, bilateral basal crackles, and a pansystolic murmur at the apex. Chest X-ray shows cardiomegaly with pulmonary edema. Echocardiography reveals dilated left ventricle (LVEDD 65 mm), global hypokinesis, ejection fraction 28%, and moderate mitral regurgitation. What is the most likely diagnosis?

A 48-year-old woman from Chennai presents with progressive dyspnea and syncope on exertion for 8 months. She reports no orthopnea or peripheral edema. On examination: BP 110/80 mmHg, HR 92/min, prominent 'a' wave in JVP, and a late-peaking systolic murmur at the left lower sternal border that increases with Valsalva. Chest X-ray shows mild cardiomegaly. Echocardiography reveals marked left ventricular hypertrophy (wall thickness 22 mm), small LV cavity, systolic anterior motion (SAM) of the mitral valve, and left ventricular outflow tract (LVOT) obstruction with a peak gradient of 85 mmHg. Genetic testing is positive for a sarcomeric gene mutation. What is the most appropriate first-line pharmacological management?

A 38-year-old woman from Delhi presents to the emergency department with severe dyspnea, orthopnea, and peripheral edema that developed acutely over 3 weeks. She delivered a healthy baby 4 weeks ago via normal vaginal delivery with no complications. On examination, she is tachycardic (HR 118/min), tachypneic (RR 26/min), and has a blood pressure of 88/56 mmHg. There is elevated JVP, hepatomegaly, and bilateral crackles. Cardiac auscultation reveals an S3 gallop. ECG shows sinus tachycardia with nonspecific ST-T wave changes. Echocardiography demonstrates a dilated left ventricle (LVEDD 58 mm) with global hypokinesis and ejection fraction of 28%. Coronary angiography is normal. Serum troponin is mildly elevated. What is the most likely diagnosis?