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Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and

Tatjana Williams1, Wolfram Machann, Leif Kühler

  • 1Department of Internal Medicine I, Center of Cardiovascular Medicine, University Hospital of Wuerzburg, Wuerzburg, Germany. williams_t@klinik.uni-wuerzburg.de

Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|July 27, 2011
PubMed

Insights

A novel desmoplakin (DSP) gene mutation caused Carvajal syndrome in two brothers, leading to severe heart failure, woolly hair, and palmoplantar keratoderma. Early identification of hair and skin abnormalities can predict cardiac risk.

Area of Science:

  • Cardiology
  • Genetics
  • Dermatology

Background:

  • Biventricular cardiomyopathy can manifest in children from consanguineous marriages.
  • Carvajal syndrome and Naxos disease share overlapping phenotypes, including heart conditions and skin abnormalities.

Observation:

  • Two brothers presented with severe biventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma.
  • One brother died at age 6, and the other required a heart transplant at age 10 due to heart failure.

Findings:

  • Genetic screening identified a novel homozygous 2 bp deletion (5208_5209delAG) in the desmoplakin (DSP) gene.
  • This mutation caused a frameshift and premature truncation of the DSP-1 isoform, a key cardiac protein.
  • The identified DSP mutation is linked to Carvajal syndrome, characterized by early-onset heart failure, non-compaction cardiomyopathy, woolly hair, and palmoplantar keratoderma.

Implications:

  • Congenital hair abnormalities and early skin manifestations can serve as indicators for children at risk of cardiac complications.
  • Understanding the genetic basis of Carvajal syndrome aids in early diagnosis and management of affected individuals.
  • This finding highlights the critical role of desmoplakin in cardiac and skin integrity.

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