2026-04-29T04:09:30Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/234862024-11-29T00:15:40Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud author Caimi-Martinez, Fiama author Antoniutti, Guido author Blanco, Rocío author García de la Villa, Bernardo author Alvarenga, Nelson author Govea-Callizo, Nancy author Torres-Juan, Laura author Heine-Suñer, Damián author Rosell-Andreo, Jordi author Crémer Luengos, David author Álvarez-Rubio, Jorge author Ripoll-Vera, Tomás 2024-10-04T13:46:21Z 2024-10-04T13:46:21Z 2022-04-27 Caimi-Martínez F, Antoniutti G, Blanco R, García de la Villa B, Alvarenga N, Govea-Callizo N, et al. New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy. Genes (Basel). 27 Apr. 2022;13(5):782. http://hdl.handle.net/20.500.13003/17879 https://hdl.handle.net/20.500.12105/23486 35627167 10.3390/genes13050782 2073-4425 Genes (Basel) 2-s2.0-85129711112 802400300001 L2016671344 Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on desmosomal genes. Knowledge of the phenotypic expression of each of these genes will help in both diagnosis and prognosis. The objective of this study is to describe the genotype-phenotype association of an unknown PKP2 gene variant in a family diagnosed with ACM. Methods: Clinical and genetic study of a big family carrying the p.Tyr168* variant in the PKP2 gene, in order to demonstrate pathogenicity of this variant, causing ACM. Results: Twenty-two patients (proband and relatives) were evaluated. This variant presented with high arrhythmic load at an early age, but without evidence of structural heart disease after 20 years of follow-up, with low risk in predictive scores. We demonstrate evidence of its pathogenicity. Conclusions: The p.Tyr168* variant in the PKP2 gene causes ACM with a high arrhythmic load and with an absence of structural heart disease. This fact emphasizes the value of knowing the phenotypic expression of each variant. eng Cardiomyopathies CVD genetics NGS for diagnostics of CVDs- New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy research article