作者
Saurabh Kumar, Stacey Peters, Tina Thompson, Natalie Morgan, Ivan Maccicoca, Alison Trainer, Dominica Zentner, Jonathan M Kalman, Ingrid Winship, Jitendra K Vohra
发表日期
2013/11/30
期刊
Heart Rhythm
卷号
10
期号
11
页码范围
1653-1660
出版商
Elsevier
简介
Background
It has been reported that cardiological screening and genetic evaluation in relatives of families with sudden unexplained death syndrome and unexplained cardiac arrest (UCA) may uncover a heritable etiology in a significant proportion of families.
Objective
To evaluate the yield of a comprehensive evaluation protocol of a large unselected cohort of consecutive families with autopsy-negative sudden unexplained death syndrome (termed sudden arrhythmic death syndrome [SADS]) and UCA.
Methods
We studied (1) 109 consecutive families (411 relatives) referred with 1 or more sudden deaths in the family and (2) 52 consecutive probands with UCA (91 relatives) referred by cardiologists between January 2007 and December 2012. A comprehensive cardiological screening was performed followed by targeted genetic evaluation if a clinical phenotype was proven or suspected. Diagnosis was made by a …
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