Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

BACKGROUND: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year. METHODS: Herein, we report a family with a marked history of SCD focusing...

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Detalles Bibliográficos
Autores principales: Kraoua, Lilia, Jaouadi, Hager, Allouche, Mohamed, Achour, Ahlem, Kaouther, Hakim, Ahmed, Habib Ben, Chaker, Lilia, Maazoul, Faouzi, Ouarda, Fatma, Zaffran, Stéphane, M'rad, Ridha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266615/
https://www.ncbi.nlm.nih.gov/pubmed/35656879
http://dx.doi.org/10.1002/mgg3.1954

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