Cardiac arrhythmias and sudden death in infancy: implication for the medicolegal investigation

被引:23
作者
Wedekind, Horst
Schulze-Bahr, Eric
Debus, Volker
Breithardt, Guenter
Brinkmann, Bernd
Bajanowski, Thomas
机构
[1] Univ Munster, Dept Cardiol & Angiol, D-48149 Munster, Germany
[2] Univ Munster, Dept Cardiol, D-48149 Munster, Germany
[3] Univ Munster, Inst Legal Med, D-48149 Munster, Germany
[4] Univ Duisburg Essen, D-45122 Essen, Germany
关键词
sudden death; infants; arrhythmias; genetics; heart disease; POLYMORPHIC VENTRICULAR-TACHYCARDIA; ST-SEGMENT ELEVATION; BUNDLE-BRANCH BLOCK; LONG-QT SYNDROME; HYPERTROPHIC CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; CLINICAL-FEATURES; BRUGADA-SYNDROME; GENETIC-BASIS; WOOLLY HAIR;
D O I
10.1007/s00414-005-0069-3
中图分类号
DF [法律]; D9 [法律]; R [医药、卫生];
学科分类号
0301 ; 10 ;
摘要
Genetically transmitted diseases are an important cause of juvenile sudden cardiac death (SCD). In a considerable proportion of individuals in which a medicolegal investigation is performed, structural heart disease is absent, and the medical examiner fails to discover an adequate cause of death. In such cases, an inherited arrhythmogenic disease should be considered, which manifests with life-threatening ventricular tachycardia or SCD. Molecular diagnosis is progressively becoming an important tool for these questions. Therefore, postmortem genetic testing ("molecular autopsy") should be considered as a part of the comprehensive medicolegal investigation in SCD cases without apparent structural heart disease. It will have implications not only for the deceased individual but also for living family members in preventing (further) cardiac events by expert counseling, appropriate lifestyle adjustment, and adequate treatment, if available.
引用
收藏
页码:245 / 257
页数:13
相关论文
共 73 条
[1]   MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia [J].
Abbott, GW ;
Sesti, F ;
Splawski, I ;
Buck, ME ;
Lehmann, WH ;
Timothy, KW ;
Keating, MT ;
Goldstein, SAN .
CELL, 1999, 97 (02) :175-187
[2]   Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome [J].
Ackerman, MJ ;
Siu, BL ;
Sturner, WQ ;
Tester, DJ ;
Valdivia, CR ;
Makielski, JC ;
Towbin, JA .
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2001, 286 (18) :2264-2269
[3]   Familial dilated cardiomyopathy: from clinical presentation to molecular genetics [J].
Arbustini, E ;
Morbini, P ;
Pilotto, A ;
Gavazzi, A ;
Tavazzi, L .
EUROPEAN HEART JOURNAL, 2000, 21 (22) :1825-1832
[4]   Epidemiology of idiopathic cardiomyopathies in children and adolescents - A nationwide study in Finland [J].
Arola, A ;
Jokinen, E ;
Ruuskanen, O ;
Saraste, M ;
Pesonen, E ;
Kuusela, AL ;
Tikanoja, T ;
Paavilainen, T ;
Simell, O .
AMERICAN JOURNAL OF EPIDEMIOLOGY, 1997, 146 (05) :385-393
[5]   CONGENITAL HEART-DISEASE AND SUDDEN-DEATH IN THE YOUNG [J].
BASSO, C ;
FRESCURA, C ;
CORRADO, D ;
MURIAGO, M ;
ANGELINI, A ;
DALIENTO, L ;
THIENE, G .
HUMAN PATHOLOGY, 1995, 26 (10) :1065-1072
[6]   Mutation in the KCNQ1 gene leading to the short QT-interval syndrome [J].
Bellocq, C ;
van Ginneken, ACG ;
Bezzina, CR ;
Alders, M ;
Escande, D ;
Mannens, MMAM ;
Baró, I ;
Wilde, AAM .
CIRCULATION, 2004, 109 (20) :2394-2397
[7]   IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY [J].
BIONE, S ;
MAESTRINI, E ;
RIVELLA, S ;
MANCINI, M ;
REGIS, S ;
ROMEO, G ;
TONIOLO, D .
NATURE GENETICS, 1994, 8 (04) :323-327
[8]   Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children [J].
Bonnet, D ;
Martin, D ;
de Lonlay, P ;
Villain, E ;
Jouvet, P ;
Rabier, D ;
Brivet, M ;
Saudubray, JM .
CIRCULATION, 1999, 100 (22) :2248-2253
[9]  
Brugada J, 1998, CIRCULATION, V97, P457
[10]  
BRUGADA J, 1999, CARDIAC ARRHYTHMIAS, P255