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

Daniel Arauco-Lázaro; Nelson D. Purizaca-Rosillo; Miguel A. Rojas-Huillca; Salomón Vásquez-Villanueva; Ericson L. Gutierrez

doi:10.1177/11795468251406974

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

Daniel Arauco-Lázaro
, Nelson D. Purizaca-Rosillo
, Miguel A. Rojas-Huillca
, Salomón Vásquez-Villanueva
, Ericson L. Gutierrez

Producción científica: Artículo Científico › Artículo original › revisión exhaustiva

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).

Idioma original	Inglés estadounidense
Publicación	Clinical Medicine Insights: Cardiology
Volumen	19
DOI	https://doi.org/10.1177/11795468251406974
Estado	Indizado - 1 ene. 2025
Publicado de forma externa	Sí

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© 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).

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

abstract = "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).",

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note = "Publisher Copyright: {\textcopyright} 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).",

year = "2025",

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Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the ABL1 Gene in a Peruvian patient: Case Report. / Arauco-Lázaro, Daniel; Purizaca-Rosillo, Nelson D.; Rojas-Huillca, Miguel A. et al.
En: Clinical Medicine Insights: Cardiology, Vol. 19, 01.01.2025.

Producción científica: Artículo Científico › Artículo original › revisión exhaustiva

TY - JOUR

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T2 - Case Report

AU - Arauco-Lázaro, Daniel

AU - Purizaca-Rosillo, Nelson D.

AU - Rojas-Huillca, Miguel A.

AU - Vásquez-Villanueva, Salomón

AU - Gutierrez, Ericson L.

N1 - Publisher Copyright: © 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).

PY - 2025/1/1

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N2 - 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).

AB - 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).

KW - ABL1

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KW - connective tissue disorders

KW - recurrent pneumothorax

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JF - Clinical Medicine Insights: Cardiology

ER -

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

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