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Papers of the Week


2022


Front Cardiovasc Med


9

Case report: Genomic screening for inherited cardiac conditions in Ecuadorian mestizo relatives: Improving familial diagnose.

Authors

Cadena-Ullauri S, Guevara-Ramirez P, Ruiz-Pozo V, Tamayo-Trujillo R, Paz-Cruz E, Sánchez Insuasty T, Doménech N, Ibarra-Rodríguez A A, Zambrano A K
Front Cardiovasc Med. 2022; 9:1037370.
PMID: 36426223.

Abstract

Genomic screening is an informative and helpful tool for the clinical management of inherited conditions such as cardiac diseases. Cardiac-inherited diseases are a group of disorders affecting the heart, its system, function, and vasculature. Among the cardiac inherited abnormalities, one of the most common is Wolff-Parkinson-White syndrome. Similarly, hypertrophic cardiomyopathy is another common autosomal dominant inherited cardiac disease. Hypertrophic cardiomyopathy is associated with an increased incidence of Wolff-Parkinson-White syndrome; reports have suggested that it could be caused by a mutation in the protein-coding gene PRKAG2, which encodes a subunit of the AMP-activated protein kinase.