Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the ABL1 Gene in a Peruvian patient: Case Report

Arauco-Lázaro D.; Purizaca-Rosillo N.D.; Rojas-Huillca M.A.; Vásquez-Villanueva S.; Gutierrez E.L. · Clinical Medicine Insights: Cardiology (2025) · DOI: 10.1177/11795468251406974

Resumen

We present the clinical case of a 20-year-old male patient who presented recurrent pneumothorax on 5 occasions; in addition, he revealed a history of skeletal malformations in the hands and joint hypermobility. A genetic panel for connective tissue disorders was performed, in which a heterozygous variant in the gene was detected ABL1: (NM_007313.2): c.199T>C (p.Trp67Arg), which was classified as probably pathogenic, which is why the diagnosis of Heart Defects and Skeletal Malformations Syndrome was confirmed (CHDSKM). © The Author(s) 2025. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).

Instituciones: Universidad Científica del Sur; Universidad Ricardo Palma; Universidad San Ignacio de Loyola; Universidad Tecnológica del Perú