期刊
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
卷 9, 期 5, 页码 -出版社
MDPI
DOI: 10.3390/jcdd9050144
关键词
hypoplastic left heart syndrome; cardiac myosin heavy chain; congenital heart disease; rare variant analysis
资金
- Advancing a Healthier Wisconsin Endowment at the Medical College of Wisconsin Grant
- Clinical and Translational Science Institute from the National Institutes of Health (NIH) CTSA [UL1TR001436, 1TL1TR001437]
- Greater Milwaukee Foundation
- Little Hearts for Life Foundation
- Medical College of Wisconsin's Department of Surgery
- Herma Heart Institute/Children's Research Institute
- NIGMS [T32-GM080202]
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease with complex genetic inheritance. Variants in the MYH6 gene have been implicated in HLHS and other cardiac malformations, highlighting the importance of genetic testing in diagnosis and treatment.
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with complex genetic inheritance. HLHS segregates with other left ventricular outflow tract (LVOT) malformations in families, and can present as either an isolated phenotype or as a feature of a larger genetic disorder. The multifactorial etiology of HLHS makes it difficult to interpret the clinical significance of genetic variants. Specific genes have been implicated in HLHS, including rare, predicted damaging MYH6 variants that are present in >10% of HLHS patients, and which have been shown to be associated with decreased transplant-free survival in our previous studies. MYH6 (alpha-myosin heavy chain, alpha-MHC) variants have been reported in HLHS and numerous other CHDs, including LVOT malformations, and may provide a genetic link to these disorders. In this paper, we outline the MYH6 variants that have been identified, discuss how bioinformatic and functional studies can inform clinical decision making, and highlight the importance of genetic testing in HLHS.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据