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Significance of α-Myosin Heavy Chain (<i>MYH6</i>) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular Diseases
oleh: Melissa Anfinson, Robert H. Fitts, John W. Lough, Jeanne M. James, Pippa M. Simpson, Stephanie S. Handler, Michael E. Mitchell, Aoy Tomita-Mitchell
Format: | Article |
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Diterbitkan: | MDPI AG 2022-05-01 |
Deskripsi
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 <i>MYH6</i> 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. <i>MYH6</i> (α-myosin heavy chain, α-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 <i>MYH6</i> 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.