A publication of the Brazilian Society of Cardiology
Fernanda Almeida Andrade
, Bruno de Oliveira Stephan
, Silas Ramos Furquim
, Bianca Domit Werner Linnenkamp
, Lucas Vieira Lacerda Pires
, [...]
Fernanda Almeida Andrade
, Bruno de Oliveira Stephan
, Silas Ramos Furquim
, Bianca Domit Werner Linnenkamp
, Lucas Vieira Lacerda Pires
, [...]
Abstract Alpha-protein kinase 3 (ALPK3) variants, particularly truncating mutations (ALPK3tv), have been associated with both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), contributing to phenotypic variability and severe clinical outcomes. HCM is characterized by left ventricular hypertrophy (LVH) not attributable to other causes and is a common genetic disorder, often linked to pathogenic variants in sarcomeric genes. However, clinical genetic testing fails to identify a causative mutation in approximately 40% of the cases, suggesting the involvement of non-sarcomeric genes such […]
Keywords: Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy; Population Biological Variation; Sarcomeres