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Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome:

Maria Grazia De Gregorio1, Francesca Girolami2, Benedetta Tomberli1

  • 1Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy.

JACC. Case Reports
|July 28, 2021
PubMed

Insights

Genetic testing identified a desmoplakin mutation in Carvajal syndrome, a rare cardiomyopathy. This finding aids in preventing cardiac arrest through early detection and risk management in affected families.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Autosomal dominant Carvajal syndrome is a rare genetic disorder.
  • Arrhythmogenic cardiomyopathy is a key feature of Carvajal syndrome.
  • Desmoplakin mutations are implicated in arrhythmogenic cardiomyopathy.

Keywords:
AC, arrhythmogenic cardiomyopathyCarvajal syndromeECG, electrocardiogramLV, left ventricularRV, right ventriculararrhythmic riskcascade screeningdesmoplakingenetic testingsudden cardiac death

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