非综合征性肥厚型心肌病概述
Nonsyndromic Hypertrophic Cardiomyopathy Overview
作者信息
Cirino Allison L, Channaoui Nadine, Ho Carolyn
机构信息
Genetic Counselor, Cardiovascular Genetics Center, Brigham and Women's Hospital, Boston, Massachusetts
Medical Director, Cardiovascular Genetics Center, Brigham and Women's Hospital, Boston, Massachusetts
PMID:20301725
Abstract
The purpose of this overview is to: 1.. Define the clinical characteristics of hypertrophic cardiomyopathy (HCM); 2.. Review the genetic causes of nonsyndromic HCM; 3.. Review the differential diagnosis of nonsyndromic HCM; 4.. Provide an evaluation strategy to identify (when possible) the genetic cause of nonsyndromic HCM in a proband; 5.. Review the management of HCM; 6.. Inform genetic counseling of family members of an individual with nonsyndromic HCM.
摘要
本综述的目的是
- 定义肥厚型心肌病（HCM）的临床特征；2. 回顾非综合征性HCM的遗传病因；3. 回顾非综合征性HCM的鉴别诊断；4. 提供一种评估策略，以（在可能的情况下）确定先证者非综合征性HCM的遗传病因；5. 回顾HCM的管理；6. 为非综合征性HCM患者的家庭成员提供遗传咨询。
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