Key result
Prospective, structured evaluation of the extended family through phenotyping and genotyping allows for the recognition and presymptomatic treatment of mutation carriers, preventing sudden deaths.
Structured evaluation and genetic screening of extended family members of young sudden cardiac arrest victims is crucial for identifying at-risk individuals and preventing further sudden deaths.
May support family screening after young sudden cardiac arrest; extends observational data but leaves open need for prospective validation.
BACKGROUND: Sudden cardiac arrest in the young is always an extremely tragic event, producing enormous stress and anxiety in the family. When the event is due to an inherited cardiac arrhythmia, the additional concerns and questions about who else is affected and who will die next can become overwhelming to both the nuclear and the extended family. Identification and screening of the family members are necessary in order to find and treat presymptomatic members and prevent sudden death. METHODS: Guidelines and strategies for care of the extended family are presented. RESULTS: Pedigree development and expansion, followed by prospective contacting of family members and screening by phenotyping and genotyping, allow recognition and treatment of many mutation carriers who would not otherwise come to medical attention unless they develop a serious cardiac event. Presymptomatic treatment of affected members is highly efficacious and prevents sudden deaths. CONCLUSIONS: Sudden cardiac arrest due to inherited arrhythmia disorders can be prevented by prospective, structured evaluation of the extended family, allowing effective, presymptomatic, and prophylactic treatment of the affected members to be provided.
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G. Michael Vincent (2009) conducted a review in Sudden cardiac arrest in the young due to inherited arrhythmias. Prospective, structured evaluation of the extended family (phenotyping and genotyping) was evaluated. Prospective, structured evaluation of the extended family through phenotyping and genotyping allows for the recognition and presymptomatic treatment of mutation carriers, preventing sudden deaths.
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