2026-04-29T02:37:43Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/232692024-11-28T21:48:06Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Rico, Yolanda author Ramis, Maria Francisca author Massot, Montse author Torres-Juan, Laura author Pons, Jaume author Fortuny Frau, Elena author Ripoll-Vera, Tomas author Gonzalez, Rosa author Peral, Vicente author Rosselló, Xavier author Heine-Suñer, Damián author 2021-12 Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20-35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the SCN5A protein. After performing an exhaustive family medical history, we found that this previously not described mutation segregated within the family. All relatives with the DCM phenotype were carriers, whereas none of the noncarriers showed signs of heart disease, so this mutation is the most likely cause of the disease. This is the first time that a variant in the N-terminal domain of SCN5A has been associated with DCM. Rico Y, Ramis MF, Massot M, Torres-Juan L, Pons J, Fortuny E, et al. Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation. Genes. 2021 Dec;12(12):1889. https://hdl.handle.net/20.500.13003/19595 https://hdl.handle.net/20.500.12105/23269 34946838 10.3390/genes12121889 2073-4425 Genes 2-s2.0-85120061330 737605700001 L2014685208 Dilated cardiomyopathy Familial dilated cardiomyopathy Genetic study SCN5A Novel mutation Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation