胎儿患有肥厚型心肌病、限制型和单心室生理学，以及β-肌球蛋白重链突变。
A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.
机构信息
Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
出版信息
J Pediatr. 2010 Jul;157(1):164-6. doi: 10.1016/j.jpeds.2010.02.044. Epub 2010 Apr 14.
Abstract
Cardiomyopathy is a significant clinical problem associated with sudden death. A molecular taxonomy is emerging that is refining the clinical classification system. We describe a patient with a pathogenic familial beta-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology.
摘要
心肌病是一种与猝死相关的重要临床问题。一种分子分类学正在出现，它正在完善临床分类系统。我们描述了一位携带致病性家族性β-肌球蛋白重链突变的患者，该患者在产前被诊断为左心室发育不良和限制性舒张期生理功能障碍。
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