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Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing

Abstract Background Genetic analysis using massive parallel sequencing is crucial for the accurate and early diagnosis of hereditary hypertrophic cardiomyopathies and their phenocopies, especially transthyretin cardiac amyloidosis (ATTR-CA) and Fabry disease (FD). This study extends the cardio next-...

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Gorde:
Egile Nagusiak: Michael Arad, Andrea Virginia Ferreira Chaves, Murillo Antunes, Abeer Bakhsh, Kenneth I. Berger, Tse Hung Fat, Armando Alves da Fonseca, Adriana Furtado, Irina Maksimova, Sandra Marques e Silva, Manish Maski, Enrique Monjes, Nelson E. Murillo Benitez, Eduardo Ortuño Campos, Márcia Gonçalves Ribeiro, Maria Juliana Rodriguez-González, Wen-Chung Yu, Huseyin Onay
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMC 2026-04-01
Saila:BMC Cardiovascular Disorders
Gaiak:
Next-generation sequencing
Left ventricular wall thickness
Hypertrophic cardiomyopathy
Transthyretin cardiac amyloidosis
Fabry disease
Alpha-galactosidase A
Sarrera elektronikoa:https://doi.org/10.1186/s12872-026-05834-5
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