Does cardiological and genetic assessment of surviving relatives of young SUD victims reveal the underlying disease and unmask presymptomatic carriers?
Cardiological and genetic assessment of surviving relatives of young sudden unexplained death victims has a high diagnostic yield, identifying the underlying disease in 40% of families.
BACKGROUND: Sudden death mostly follows from cardiac disorders that elicit lethal ventricular arrhythmias. In young individuals, it often remains unexplained because history and/or postmortem analysis are absent or provide no clue. Because such sudden unexplained deaths (SUDs) may have heritable causes, cardiological and genetic assessment of surviving relatives of SUD victims may reveal the underlying disease and unmask presymptomatic carriers. We aimed to establish the diagnostic yield of such assessments. METHODS AND RESULTS: We investigated 43 consecutive families with > or =1 SUD victim who died at or =2 SUD victims < or =40 years of age. The resting/exercise ECG had a high diagnostic yield. These efforts unmasked 151 presymptomatic disease carriers (8.9 per family). CONCLUSIONS: Examination of relatives of young SUD victims has a high diagnostic yield, with identification of the disease in 40% of families and 8.9 presymptomatic carriers per family. Simple procedures (examining many relatives) and routine tests (resting/exercise ECG) constitute excellent diagnostic strategies. Molecular genetics provide strong supportive information.
Tan et al. (Wed,) studied this question.