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oai:repisalud.isciii.es:20.500.12105/231992024-11-28T19:34:15Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud author Morlanes-Gracia, Paula author Antoniutti, Guido author Álvarez-Rubio, Jorge author Torres-Juan, Laura author Heine-Suñer, Damián author Ripoll-Vera, Tomas 2024-09-18T06:42:24Z 2024-09-18T06:42:24Z 2021-07-01 Morlanes-Gracia P, Antoniutti G, Alvarez-Rubio J, Torres-Juan L, Heine-Suner D, Ripoll-Vera T. Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death. Front Cardiovasc Med. 2021 Jul 1;8:691203. 10.3389/fcvm.2021.691203 2297-055X Frontiers in Cardiovascular Medicine https://hdl.handle.net/20.500.13003/19481 34277740 https://hdl.handle.net/20.500.12105/23199 674427300001 The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not frequent in the literature. We describe a family with a novel missense mutation in the NKX2-5 gene (p.Gln181Pro) with numerous antecedents with atrial septal defect (ASD), left ventricular non-compaction (LVNC), conduction disease, and sudden cardiac death (SCD). eng NKX2-5 Genetic Congenital heart disease Sudden cardiac death Left ventricular non-compaction Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death research article