Related Experiment Video

Updated: Jun 21, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar

Tomo Svaguša1, Filip Sedlić2, Sven Županić3

  • 1Department of Cardiovascular Diseases, Dubrava University Hospital, Zagreb, Croatia.

Clinical Genetics
|July 12, 2024
PubMed

Insights

Genetic variants in the LDB3 gene are linked to heart and muscle disorders. This study identifies an LDB3 gene polymorphism potentially causing both hypertrophic cardiomyopathy and myofibrillar myopathy 4 in a single patient.

Area of Science:

  • Cardiovascular Genetics
  • Neuromuscular Disorders
  • Molecular Biology

Background:

  • Polymorphisms in the Z-disc alternatively spliced PDZ-containing protein (LDB3) gene are associated with various cardiomyopathies and myofibrillar myopathies.
  • Myofibrillar myopathy 4 (MM4) is a rare inherited muscle disease characterized by progressive muscle weakness and degeneration.

Observation:

  • A patient presented with clinical features of hypertrophic cardiomyopathy (HCM) and distal myopathy, consistent with MM4.
  • Genetic analysis was performed using the TruSight Cardio Sequencing Kit.

Findings:

  • A suspected LDB3 gene variant (c.1435G>A, p.(Gly479Arg)) was identified in the patient.
  • This is the first reported case linking an LDB3 gene polymorphism to both MM4 and HCM in the same individual.

Implications:

  • This finding expands the known spectrum of LDB3-related disorders.
  • It highlights the importance of genetic testing for LDB3 variants in patients with overlapping cardiac and neuromuscular symptoms.
  • Further research is warranted to elucidate the precise pathogenic mechanisms of this LDB3 variant.

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