lunes, 2 de septiembre de 2013

Familial Cardiological and Targeted Genetic Eva... [Heart Rhythm. 2013] - PubMed - NCBI

Familial Cardiological and Targeted Genetic Eva... [Heart Rhythm. 2013] - PubMed - NCBI

Heart Rhythm. 2013 Aug 22. pii: S1547-5271(13)00897-7. doi: 10.1016/j.hrthm.2013.08.022. [Epub ahead of print]

Familial Cardiological and Targeted Genetic Evaluation: Low Yield in Sudden Unexplained Death and High Yield in Unexplained Cardiac Arrest Syndromes.


Department of Cardiology, The Royal Melbourne Hospital; Department of Medicine, University of Melbourne.



It has been reported that cardiological screening and genetic evaluation in relatives of sudden unexplained death syndrome (SUDS) and unexplained cardiac arrest (UCA) families may uncover a heritable etiology in a significant proportion of families.


To evaluate the yield of a comprehensive evaluation protocol of a large, unselected cohort of consecutive autopsy-negative SUDS (sudden arrhythmic death syndrome, SADS) and UCA families.


We studied (i) 109 consecutive families (411 relatives) referred with ≥ 1 SADS in the family, and (ii) 52 consecutive UCA victims (91 relatives) from cardiologists between 2007-2012. A comprehensive cardiological screen was performed followed by targeted genetic evaluation if a clinical phenotype was proven or suspected. Diagnosis was made by a multidisciplinary team using published clinical criteria.


A diagnosis was made in 19/109 SADS families (yield 18%), with the majority having long QT syndrome (LQTS). Diagnosis varied according to proband age with LQTS most common in the very young (≤20 years) and Brugada syndrome (BrS) in the older age probands (≥40 years, P=.03). In contrast, a diagnosis was made in 32/52 UCA families (yield 62%), the majority of which were LQTS and BrS. No clinical or circumstantial factors increased the likelihood of diagnosis in either SADS or UCA families.


In contrast to previously published series, a comprehensive strategy of cardiological evaluation and targeted genetic testing in over 100 SADS families was found to have a lower diagnostic yield (18%). Diagnostic yield in UCA families was ~4 fold higher (62%), consistent with published experience.
Copyright © 2013. Published by Elsevier Inc.


ARVC, BrS, Brugada syndrome, CPVT, Cardiological screening, DCM, ECG, ER, EST-, Genetic testing, HCM, Inherited arrhythmia syndromes, LQTS, Long QT syndrome, MRI, SADS, SAECG, SQT, SUDS, Sudden arrhythmic death syndrome, UCA, Unexplained cardiac arrest, arrhythmogenic right ventricular cardiomyopathy, catecholaminergic polymorphic ventricular tachycardia, dilated cardiomyopathy, early repolarization, electrocardiography, exercise stress test, hypertrophic cardiomyopathy, long QT syndrome, magnetic resonance imaging, short QT syndrome, signal averaged ECG, sudden arrhythmic death syndrome, sudden unexplained death syndrome, unexplained cardiac arrest
[PubMed - as supplied by publisher]

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