Familial Restrictive Cardiomyopathy With 12 Affected Family Members

Abstract

The investigators describe idiopathic restrictive cardiomyopathy in a 50-year-old woman. Eleven other family members had cerebrovascular accidents, arrhythmias, and/or heart failure requiring cardiac transplantation. The patient developed dyspnea and palpitations at 19 years of age, when echocardiography demonstrated normal left ventricular systolic function, biatrial enlargement, and a restrictive Doppler mitral inflow pattern; restrictive hemodynamics were confirmed on cardiac catheterization. She was managed for many years with diuretics, antiarrhythmic agents, and anticoagulation and underwent cardioversion for recurrent atrial fibrillation. In conclusion, the patient ultimately underwent cardiac transplantation. Idiopathic restrictive cardiomyopathy (IRC) is an uncommon cardiac disorder characterized by left ventricular (LV) diastolic dysfunction with normal LV systolic function and wall thickness and symptoms of heart failure. We report