Elsevier

JACC: Case Reports

Volume 2, Issue 6, June 2020, Pages 925-929
JACC: Case Reports

Mini-Focus Issue: Cardiomyopathies
Case Report: Clinical Case
Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families

https://doi.org/10.1016/j.jaccas.2020.03.033Get rights and content
Under a Creative Commons license
open access

Abstract

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.)

Key Words

arrhythmic risk
Carvajal syndrome
cascade screening
desmoplakin
genetic testing
sudden cardiac death

Abbreviations and Acronyms

AC
arrhythmogenic cardiomyopathy
ECG
electrocardiogram
LV
left ventricular
RV
right ventricular

Cited by (0)

Dr. Olivotto was supported by the European Union’s Horizon 2020 Research and Innovation Programme under Grant Agreement 777204: “SILICOFCM - In Silico Trials for Drug Tracing the Effects of Sarcomeric Protein Mutations Leading to Familial Cardiomyopathy”; by the Italian Ministry of Health (“Left Ventricular Hypertrophy in Aortic Valve Disease and Hypertrophic Cardiomyopathy: Genetic Basis, Biophysical Correlates and Viral Therapy Models” (RF-2013-02356787) and NET-2011-02347173 (“Mechanisms and Treatment of Coronary Microvascular Dysfunction in Patients With Genetic or Secondary Left Ventricular Hypertrophy”); and by the Ente Cassa di Risparmio di Firenze (bando 2016) “Juvenile Sudden Cardiac Death: Just Know and Treat.” All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

The authors attest they are in compliance with human studies committees and animal welfare regulations of the authors’ institutions and Food and Drug Administration guidelines, including patient consent where appropriate. For more information, visit the JACC: Case Reports author instructions page.