Novel compound heterozygous ALPK3 mutations (c.4234C>T and c.3491G>A), causing hypertrophic cardiomyopathy treated with the liwen procedure: case report

BackgroundHypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiovascular disease characterised by myocardial hypertrophy with a prevalence of approximately 0.2%–0.5%. Recently, in addition to mutations in genes encoding sarcomeric proteins, which have traditionally been implicated in the...

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Autores principales:	Wen-Jing Liu, Yang Hua, Feng-Hui Jiao, Hai-Ying Hu, Wen-Juan Xu, Ya-Nan Wang, Li-Ping Duan, Xiu-Feng Zhao, Ren-Jie Zhang, Chao Chang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2025-12-01
Colección:	Frontiers in Cardiovascular Medicine
Materias:	hypertrophic cardiomyopathy occult biventricular obstructive hypertrophic cardiomyopathy ALPK3 gene domain architecture and mutation distribution of ALPK3 liwen procedure
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fcvm.2025.1671882/full
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