A Case of Restrictive Cardiomyopathy and Findings of Family Screening

Restrictive cardiomyopathy is a rare disease of the heart muscle. We present here the clinical findings and results of family screening of a case with restrictive cardiomyopathy. All affected cases had palpitation and atypical chest pain. Echocardiographic examination revealed mild to moderate and localized left ventricular hypertrophy, marked left atrial enlargement and restrictive filling pattern in two, mid-segmental hypertrophy and relaxation abnormality in one patient. Ambulatory ECG recordings showed frequent supraventricular arrhythmias and ST segment depression in all three cases. Two of them died with sudden death, nine months after diagnosis. The third case received antiarrhythmic, anticoagulant and heart failure therapy. In electrophysiological study an atrioventricular nodal reentrant tachycardia, a ventricular tachycardia and ventricular fibrillation were detected. The patient underwent a successful slow-pathway radiofrequency catheter ablation and an ICD was implanted. The cardiomyopathy presenting with different phenotypic findings in the same family, high risk for sudden death and poor prognosis and its characteristics consistent with restrictive and hypertrophic cardiomyopathy were discussed.