Key result
A multidisciplinary approach and targeted genetic testing, particularly cascade family screening, are essential for managing hypertrophic cardiomyopathy despite a relatively low diagnostic yield.
Why the study?
Hypertrophic cardiomyopathy has marked phenotypic and genotypic heterogeneity, requiring multidisciplinary evaluation to avoid missing syndromic forms eligible for individualized therapy.
A comprehensive, multidisciplinary approach and cascade family screening in expert centers are essential for the appropriate use and clinical interpretation of genetic testing in hypertrophic cardiomyopathy.
Supports multidisciplinary HCM care with cascade screening in expert centers; leaves open strategies to raise diagnostic yield.
HypertrofickĂĄ kardiomyopatie (HKMP) je s pĹedpoklĂĄdanou prevalencĂ 1/500 aĹž 1/200 obyvatel jednĂm z nejÄastÄjĹĄĂch geneticky podmĂnÄnĂ˝ch srdeÄnĂch onemocnÄnĂ. Pro HKMP je charakteristickĂĄ vĂ˝raznĂĄ fenotypovĂĄ i genotypovĂĄ heterogenita. Pacienti s HKMP by mÄli bĂ˝t komplexnÄ a mutidisciplinĂĄrnÄ vyĹĄetĹeni, aby nebyly pĹehlĂŠdnuty nÄkterĂŠ syndromickĂŠ formy s moĹžnostĂ individualizovanĂŠ terapie. PĹi molekulĂĄrnÄ genetickĂŠm vyĹĄetĹenĂ souÄasnĂ˝mi metodami vÄetnÄ sekvenovĂĄnĂ novĂŠ generace (NGS) u velkĂŠ ÄĂĄsti pacientĹŻ nezachytĂme Şådnou patogennĂ nebo pravdÄpodobnÄ patogennĂ (P/LP) variantu. Bez ohledu na pouĹžitou metodu by mÄla molekulĂĄrnÄ genetickĂĄ analĂ˝za vĹždy zahrnovat nejÄastÄjĹĄĂ sarkomerickĂŠ geny. DostupnĂ˝mi metodami NGS pĹichĂĄzĂ moĹžnost vyĹĄetĹenĂ velkĂŠho mnoĹžstvĂ genĹŻ, vÄetnÄ celoexomovĂŠho (WES) a celogenomovĂŠho (WGS) vyĹĄetĹenĂ. VÄtĹĄĂ objem dat obvykle nezvyĹĄuje pravdÄpodobnost zĂĄchytu P/LP mutacĂ a vede k nĂĄrĹŻstu nĂĄlezĹŻ variant nejasnĂŠho vĂ˝znamu (VUS), jejichĹž klinickĂĄ relevance je diskutabilnĂ. KaskĂĄdovĂ˝ rodinnĂ˝ screening je zĂĄsadnĂ. MolekulĂĄrnÄ genetickĂŠ vyĹĄetĹenĂ je vhodnĂŠ pĹedevĹĄĂm tam, kde pĹĂbuznĂ majĂ zĂĄjem o pĹesnÄjĹĄĂ urÄenĂ rizika onemocnÄnĂ a jejich nĂĄslednou dispenzarizaci. PotvrzenĂ pĹĂtomnosti P/LP mutace vĹĄak nutnÄ nemusĂ znamenat rozvoj HKMP. KomplexnĂ pĹĂstup k pacientĹŻm s hypertrofickou kardiomyopatiĂ vyĹžaduje Ăşzkou mezioborovou spoluprĂĄci kardiologa, molekulĂĄrnĂho genetika, klinickĂŠho genetika, dÄtskĂŠho kardiologa i jinĂ˝ch specializacĂ. Nezbytnou podmĂnkou genetickĂŠho vyĹĄetĹenĂ a vyuĹžitĂ jeho vĂ˝stupĹŻ v praxi je sledovĂĄnĂ v expertnĂch centrech se zkuĹĄenostmi s molekulĂĄrnÄ genetickĂ˝m vyĹĄetĹovĂĄnĂm a jeho klinickou interpretacĂ. © 2020, ÄKS.
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Bonaventura et al. (2020) conducted a review in Hypertrophic cardiomyopathy. Genetic testing and multidisciplinary approach was evaluated. A multidisciplinary approach and targeted genetic testing, particularly cascade family screening, are essential for managing hypertrophic cardiomyopathy despite a relatively low diagnostic yield.
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