Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy
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A 31-year-old white male experienced ventricular fibrillation during exercise. He was successfully resuscitated without cerebral deficits and admitted to the Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Denmark. He had no medical history but had trained extensively the past year, including completing a marathon 6 months before the incident. Clinical workup showed a dilated right ventricle (Figure 1A) with segmental hypokinesia, but normal left ventricular size and function and no valvular abnormalities. ECG showed incomplete right bundle branch block with negative T-waves V1–V2. A septal endomyocardial biopsy revealed fatty infiltrations and fibrosis (Figure 1B). On the basis of these findings, the patient was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) according to Task Force criteria.1 He was fitted with an implantable cardioverter–defibrillator. After 10 years of follow-up, the patient had received several appropriate implantable cardioverter–defibrillator therapies (Figure 1C). At the time of his diagnosis, no other family members were reported to have signs or symptoms of ARVC although none had been screened before presentation of the index patient. The patient was referred to genetic testing.
The index patient was screened in the coding sequences and flanking introns of 65 known cardiomyopathy-associated …