A Fetus with Hypertrophic Cardiomyopathy, Restrictive, and Single-Ventricle Physiology, and a β-Myosin Heavy Chain Mutation

被引：6

作者：

Hinton, Robert B. ^{[1
]}

Michelfelder, Erik C.

Marino, Bradley S. ^{[2
]}

Bove, Kevin E. ^{[3
]}

Ware, Stephanie M. ^{[4
,5
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Inst Heart, Div Cardiol, Cincinnati, OH 45229 USA

[2] Cincinnati Childrens Hosp Med Ctr, Div Crit Care, Cincinnati, OH 45229 USA

[3] Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA

[4] Cincinnati Childrens Hosp Med Ctr, Div Mol Cardiovasc Biol, Cincinnati, OH 45229 USA

[5] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA

来源：

JOURNAL OF PEDIATRICS | 2010年 / 157卷 / 01期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.jpeds.2010.02.044

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. (J Pediatr 2010;157:164-6)

引用

页码：164 / 166

页数：3

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