JACC: Case Reports (Jun 2020)

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

  • Maria Grazia De Gregorio, MD,
  • Francesca Girolami, BS,
  • Benedetta Tomberli, MD,
  • Guendalina Rossi, MD,
  • Alessia Tomberli, RN,
  • Katia Baldini, RN,
  • Iacopo Olivotto, MD

Journal volume & issue
Vol. 2, no. 6
pp. 925 – 929

Abstract

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In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified. Cascade screening identified 2 affected family members and 2 healthy children carrying the mutation. Strategies for primary and secondary risk prevention emphasize the role of genetic testing in rare cardiomyopathies. (Level of Difficulty: Advanced.)

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