DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies

Summary

The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with dystrophinopathies. The study also evaluates whether cardiac biomarkers and electrocardiographic findings can facilitate the early identification of cardiac involvement. Participants will undergo electrocardiography, blood sampling for cardiac biomarker assessment, and transthoracic echocardiography, with cardiac dysfunction evaluated using ejection fraction (EF) and global longitudinal strain (GLS).

Eligibility

Inclusion Criteria:

* Male sex
* Age between 2 and 24 years at the time of enrollment
* Genetically confirmed dystrophinopathy with a pathogenic or likely pathogenic variant in the DMD gene
* Genetic confirmation based on at least one validated method, including MLPA, NGS, Sanger sequencing, array-CGH, or qPCR
* Written informed consent from parents or legal guardians and, where applicable, consent from the participant

Exclusion Criteria:

* Absence of a genetically confirmed diagnosis of dystrophinopathy, including:
* diagnosis based solely on muscle biopsy without molecular confirmation of a pathogenic or likely pathogenic DMD gene variant
* absence of a confirmed pathogenic variant in the DMD gene, even if maternal carrier status has been identified, unless repeat genetic testing confirms a pathogenic variant in the participant
* Presence of congenital heart disease or other genetic disorders causing primary cardiomyopathy
* Presence of other neuromuscular disorders
* Female carriers, including both manifesting and asymptomatic carriers
* Comorbidities that may independently affect cardiac function, such as severe arterial hypertension, diabetes mellitus, or chronic kidney disease

Conditions4

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