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[Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin]

Josep Navarro-Manchón1, Elena Fernández, Begoña Igual

  • 1Departamento de Cardiología, Hospital La Fe, Valencia, España.

Revista Espanola De Cardiologia
|April 5, 2011
PubMed

Insights

Left dominant arrhythmogenic cardiomyopathy (LDAC) is a genetic heart condition. Familial screening identified a novel desmoplakin gene mutation in affected individuals, confirming the LDAC diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Context:

  • Left dominant arrhythmogenic cardiomyopathy (LDAC) presents with distinct genetic and phenotypic traits.
  • A familial study investigated five Spanish relatives exhibiting LDAC characteristics.

Purpose:

  • To characterize the phenotypic and genetic profile of LDAC within a Spanish family.
  • To identify the underlying genetic mutation responsible for LDAC in the studied cohort.

Summary:

  • A young male presented with ventricular tachycardia and left ventricular late gadolinium enhancement, preceded by cold exposure.
  • Resting ECG revealed low potentials, delayed depolarization, and AV conduction issues; biopsy showed myocyte loss and fibrosis.
  • A novel nonsense mutation (Q1866X) in the desmoplakin gene was identified, leading to a truncated protein, confirming LDAC diagnosis through familial screening.

Impact:

  • Highlights the importance of familial screening in diagnosing LDAC.
  • Identifies a novel desmoplakin gene mutation associated with LDAC.
  • Contributes to understanding the genetic basis and clinical presentation of arrhythmogenic cardiomyopathy.

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