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- W3202054996 abstract "Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with an estimated prevalence of up to 1 in 200 individuals. In the majority of cases, HCM is considered a Mendelian disease, with mainly autosomal dominant inheritance. Most pathogenic variants are usually detected in genes for sarcomeric proteins. Nowadays, the genetic basis of HCM is believed to be rather complex. Thousands of mutations in more than 60 genes have been described in association with HCM. Nevertheless, screening large numbers of genes results in the identification of many genetic variants of uncertain significance and makes the interpretation of the results difficult. Patients lacking a pathogenic variant are now believed to have non-Mendelian HCM and probably have a better prognosis than patients with sarcomeric pathogenic mutations. Identifying the genetic basis of HCM creates remarkable opportunities to understand how the disease develops, and by extension, how to disrupt the disease progression in the future. The aim of this review is to discuss the brief history and recent advances in the genetics of HCM and the application of molecular genetic testing into common clinical practice." @default.
- W3202054996 created "2021-10-11" @default.
- W3202054996 creator A5014118911 @default.
- W3202054996 creator A5031258617 @default.
- W3202054996 creator A5040817769 @default.
- W3202054996 creator A5089857274 @default.
- W3202054996 date "2021-09-27" @default.
- W3202054996 modified "2023-10-18" @default.
- W3202054996 title "Genetic Testing in Patients with Hypertrophic Cardiomyopathy" @default.
- W3202054996 cites W1964248172 @default.
- W3202054996 cites W1964476929 @default.
- W3202054996 cites W1971259806 @default.
- W3202054996 cites W1987736934 @default.
- W3202054996 cites W1988639020 @default.
- W3202054996 cites W1989018790 @default.
- W3202054996 cites W1989044657 @default.
- W3202054996 cites W1997282622 @default.
- W3202054996 cites W1998689916 @default.
- W3202054996 cites W1999251970 @default.
- W3202054996 cites W2005297712 @default.
- W3202054996 cites W2018780648 @default.
- W3202054996 cites W2019655232 @default.
- W3202054996 cites W2034904174 @default.
- W3202054996 cites W2042562951 @default.
- W3202054996 cites W2051978340 @default.
- W3202054996 cites W2057003164 @default.
- W3202054996 cites W2077698761 @default.
- W3202054996 cites W2088888340 @default.
- W3202054996 cites W2091144838 @default.
- W3202054996 cites W2091758400 @default.
- W3202054996 cites W2096261947 @default.
- W3202054996 cites W2099324354 @default.
- W3202054996 cites W2100906399 @default.
- W3202054996 cites W2107628740 @default.
- W3202054996 cites W2107704552 @default.
- W3202054996 cites W2118418827 @default.
- W3202054996 cites W2127423627 @default.
- W3202054996 cites W2135485103 @default.
- W3202054996 cites W2140752009 @default.
- W3202054996 cites W2145233704 @default.
- W3202054996 cites W2161144802 @default.
- W3202054996 cites W2167216222 @default.
- W3202054996 cites W2170147086 @default.
- W3202054996 cites W2171649986 @default.
- W3202054996 cites W2211212019 @default.
- W3202054996 cites W2283997874 @default.
- W3202054996 cites W2295648919 @default.
- W3202054996 cites W2325679484 @default.
- W3202054996 cites W2464372229 @default.
- W3202054996 cites W2524168389 @default.
- W3202054996 cites W2559072822 @default.
- W3202054996 cites W2579055326 @default.
- W3202054996 cites W2588008392 @default.
- W3202054996 cites W2604837394 @default.
- W3202054996 cites W2657190715 @default.
- W3202054996 cites W2740810575 @default.
- W3202054996 cites W2752291901 @default.
- W3202054996 cites W2766346159 @default.
- W3202054996 cites W2773983461 @default.
- W3202054996 cites W2810408353 @default.
- W3202054996 cites W2887210220 @default.
- W3202054996 cites W2888036721 @default.
- W3202054996 cites W2893091353 @default.
- W3202054996 cites W2898130627 @default.
- W3202054996 cites W2901217778 @default.
- W3202054996 cites W2904169516 @default.
- W3202054996 cites W2905200761 @default.
- W3202054996 cites W2911299823 @default.
- W3202054996 cites W2912713642 @default.
- W3202054996 cites W2915448841 @default.
- W3202054996 cites W2915607890 @default.
- W3202054996 cites W2952445740 @default.
- W3202054996 cites W2974656052 @default.
- W3202054996 cites W2978515721 @default.
- W3202054996 cites W2982416597 @default.
- W3202054996 cites W2988737500 @default.
- W3202054996 cites W3003298654 @default.
- W3202054996 cites W3008685603 @default.
- W3202054996 cites W3008784905 @default.
- W3202054996 cites W3010668430 @default.
- W3202054996 cites W3017333828 @default.
- W3202054996 cites W3028459339 @default.
- W3202054996 cites W3034621677 @default.
- W3202054996 cites W3041792030 @default.
- W3202054996 cites W3045082596 @default.
- W3202054996 cites W3106383159 @default.
- W3202054996 cites W3106752039 @default.
- W3202054996 cites W3107555300 @default.
- W3202054996 cites W3119461552 @default.
- W3202054996 cites W3121184362 @default.
- W3202054996 cites W3122115907 @default.
- W3202054996 cites W3152604983 @default.
- W3202054996 cites W3157833042 @default.
- W3202054996 cites W3158383171 @default.
- W3202054996 cites W3160651452 @default.
- W3202054996 cites W3175112718 @default.
- W3202054996 cites W3176869999 @default.
- W3202054996 cites W3181207590 @default.