Makhoul Majd, Ackerman Michael J, Atkins Dianne L, Law Ian H
Department of Pediatric Cardiology, University of Iowa Children's Hospital, Iowa City, IA, USA.
Pediatr Cardiol. 2011 Feb;32(2):215-20. doi: 10.1007/s00246-010-9843-1. Epub 2010 Nov 19.
This report demonstrates variable clinical courses in several members of a family with tropomyosin-mediated hypertrophic cardiomyopathy (HCM) (L185R mutation). The index case was an 8-year-old girl who died from sudden cardiac death and was diagnosed with HCM on autopsy. Her father had minimal hypertrophy but had an implantable cardioverter defibrillator placed prophylactically with no appropriate shocks. Two brothers progressed from normal phenotype to HCM on follow-up, the younger with significant hypertrophy and the older with mild hypertrophy. They both had malignant arrhythmia courses with VF, which was terminated by ICD shock. In conclusion, family members with same genotype can have significantly variable phenotypes.
本报告展示了一个患有原肌球蛋白介导的肥厚型心肌病（HCM）（L185R突变）的家族中几名成员的不同临床病程。索引病例是一名8岁女孩，死于心源性猝死，尸检时被诊断为HCM。她的父亲仅有轻微肥厚，但预防性植入了植入式心律转复除颤器，未发生过恰当电击。两名兄弟在随访中从正常表型发展为HCM，弟弟有显著肥厚，哥哥有轻度肥厚。他们都有室颤的恶性心律失常病程，均通过植入式心律转复除颤器电击终止。总之，具有相同基因型的家族成员可具有显著不同的表型。
