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

Research output: Contribution to journal › Original Article › peer-review

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).

Original language	American English
Journal	Clinical Medicine Insights: Cardiology
Volume	19
DOIs	https://doi.org/10.1177/11795468251406974
State	Indexed - 1 Jan 2025
Externally published	Yes

Bibliographical note

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).

Keywords

ABL1
CHDSKM
connective tissue disorders
recurrent pneumothorax

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10.1177/11795468251406974

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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).",

keywords = "ABL1, CHDSKM, connective tissue disorders, recurrent pneumothorax",

author = "Daniel Arauco-L{\'a}zaro and Purizaca-Rosillo, \{Nelson D.\} and Rojas-Huillca, \{Miguel A.\} and Salom{\'o}n V{\'a}squez-Villanueva and Gutierrez, \{Ericson L.\}",

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year = "2025",

month = jan,

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doi = "10.1177/11795468251406974",

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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).

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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

KW - CHDSKM

KW - connective tissue disorders

KW - recurrent pneumothorax

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DO - 10.1177/11795468251406974

M3 - Original Article

AN - SCOPUS:105024843495

SN - 1179-5468

VL - 19

JO - Clinical Medicine Insights: Cardiology

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

Abstract

Bibliographical note

Keywords

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