Evolution of Hypertrophic Cardiomyopathy to a Contemporary Treatable Disease

C ase 1: The patient is now a 56-year-old man with nonobstructive hypertrophic cardiomyopathy (HCM). At 35 years of age, his brother (aged 39) died suddenly with a new diagnosis of HCM made at autopsy. A diagnostic evaluation ensued, and nonobstructive HCM was identified with a ventricular septal thickness of 31 mm. Because of the family history of sudden death (and his marked hypertrophy), an implantable cardioverter- defibrillator (ICD) was implanted for primary prevention of sudden death. Five years later, during sleep (1:00 am), the ICD aborted an episode of ventricular fibrillation (VF) and restored sinus rhythm (Figure 1). Nine years passed without incident, and at 50 years of age, an identical VF event occurred during sleep, similarly terminated by a defibrillation shock. Now, at 56 years of age, the patient continues to be asymptomatic and active. His clinical course with HCM has been punctuated only by these 2 unpredictable sudden-death events effectively treated by an ICD prophylactically implanted for high-risk status.Figure 1. Primary prevention of sudden death with the ICD that aborted an episode of VT/VF at 41 years of age (appropriate shock #1). A , After 4 sinus beats, VT begins abruptly at 200 bpm; B , Defibrillator senses VT and begins an 8-second charge. C , VT deteriorates into VF. D , Defibrillator appropriately discharges a 20-J shock (bar) and restores sinus rhythm within 1 beat. SD indicates sudden death; ICD, implantable cardioverter defibrillator; VT, ventricular tachycardia; and VF, ventricular fibrillation. Adapted and reproduced from Maron et al,1 with permission from the publisher. Copyright © 2007, American Medical Association.Case 2: The patient is a 53-year-old female elementary school teacher with obstructive HCM. She presented at 44 years of age, asymptomatic, but with a strong family history of sudden deaths due to HCM in 2 brothers (aged …