From gene to heart: the impact of a novel SGCD variant in familial dilated cardiomyopathy.

Abstract excerpt

BACKGROUND: Dilated cardiomyopathy (DCM) is a leading cause of heart failure, often resulting in reduced ejection fraction and progressive cardiac dysfunction. Although up to half of idiopathic DCM can be linked to genetic variants, many familial cases still lack a definitive molecular diagnosis. Sarcoglycan delta (SGCD) encodes a crucial component of the dystrophin-glycoprotein complex, and variants in this gene...

Topics

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• Cardiomyopathy, Dilated
• Child, Preschool
• Exome Sequencing
• Genetic Variation
• Pedigree