Sudden Arrhythmic Death: Family Evaluation Identifies the Cause

Abstract

A 23-year-old female professional dancer died suddenly following physical activity. Routine postmortem examination failed to establish the cause of death. No cardiac structural abnormalities were revealed. She had a history of presyncopal episodes during the last two months preceding her sudden cardiac death (SCD). Following the proband’s death, her family was referred to our department for clinical evaluation. Following informed consent, family members were evaluated with a standard protocol. All individuals underwent detailed non-invasive evaluation followed by genetic testing.

The proband’s uncle was the first family member to undergo clinical investigation. He had been diagnosed with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) almost 5 years before his niece’s SCD. The proband was positive for a plakophilin-2 (PKP2) mutation and both her father and uncle had a typical form of the ARVC/D disease. To strengthen our diagnostic assessment an immunohistochemical analysis was undertaken of a myocardial sample obtained at autopsy, which pointed towards ARVC. Thus, her death was attributed to ARVC. Probably, the mutation had been inherited from her paternal grandfather. Although he had never been clinically evaluated, and no tissue was available for genetic analysis, he had a history of SCD at the age of 72, thus, raising suspicions of cardiac disease