The genetic workup for structural congenital heart disease

被引：22
作者：
Jerves, Teodoro [1 ]
Beaton, Andrea [2 ]
Kruszka, Paul [1 ]
机构：
[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
[2] Cincinnati Childrens Hosp, Dept Pediat, Cincinnati, OH USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2020年 / 184卷 / 01期
关键词：
congenital heart disease; genetic counseling; genetic testing; genetics; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC-TOOL; DEFECTS; ABNORMALITIES; RECURRENCE; ANOMALIES; STATEMENT; VARIANTS;
D O I：
10.1002/ajmg.c.31759
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Congenital heart disease (CHD) is the most prevalent birth defect and is the result of multiple etiologies including genetic and environmental causes. This article reviews the genetic workup for structural CHD in the clinical setting, beginning with CHD epidemiology and etiology and then moving to genetic testing, clinical evaluation, and genetic counseling. An algorithm is presented as a guide to genetic test selection, and available tests are explained with their respective advantages and limitations. Finally, future advances are discussed. As this review focuses on structural heart disease, isolated cardiomyopathies, inherited primary arrhythmia syndromes and aortopathies are not discussed.
引用
收藏
页码：178 / 186
页数：9
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