Abstract
Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led to the newer term of arrhythmogenic cardiomyopathy (ACM). We report on a family with autosomal dominant desmoplakin (DSP) related ACM to illustrate the broad clinical spectrum of disease. The importance of evaluation of relatives with cardiac magnetic resonance imaging and consideration of genetic testing in the absence of Task Force diagnostic criteria is discussed. The practical and ethical issues of access to the Guthrie collection for deoxyribonucleic acid (DNA) testing are considered.
Highlights
The proband died aged 19 years whilst trekking in India
After two autopsies the cause of death was determined as sudden arrhythmic death syndrome (SADS)
The mother was asymptomatic at the initial clinical evaluation and the 12 lead ECG and echocardiogram were normal by Task Force criteria
Summary
The proband died aged 19 years whilst trekking in India. After two autopsies the cause of death was determined as sudden arrhythmic death syndrome (SADS). “There was no blood or tissue specimen available to be used as source of deoxyribonucleic acid (DNA). For comprehensive genetic analysis in the proband. We obtained access to a historic DNA sample retained from the neonatal Guthrie screening card; this allowed targeted DNA analysis when a variant was identified in another relative.”. Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Symbols with a single slash mark are deceased family members. Variant is indicated for family members with DNA samples available for testing
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