Sudden arrhythmic death syndrome: Diagnostic yield of comprehensive clinical evaluation of pediatric first-degree relatives

PACE - Pacing and Clinical Electrophysiology

Volumn 37, Issue 12, 2014, Pages 1681-1685

  Giudici, Valentina ^a,b   Spanaki, Adriani ^a   Hendry, Jennifer ^a   Mead Regan, Sarah ^a   Field, Ella ^a   Zuccotti, Gian Vincenzo ^b   Abrams, Dominic ^c   Lowe, Martin ^a   Kaski, Juan Pablo ^a,d  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY OF MILAN   (Italy)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

arrhythmia; Brugada syndrome; long QT syndrome; pediatric; screening; sudden death

Indexed keywords

AJMALINE;

ADOLESCENT; ARTICLE; BRUGADA SYNDROME; CARDIOVASCULAR MAGNETIC RESONANCE; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHILD; CLINICAL EVALUATION; CLINICAL PROTOCOL; DIAGNOSTIC VALUE; ELECTROCARDIOGRAM; EXERCISE ELECTROCARDIOGRAPHY; EXERCISE TEST; FAMILY; FAMILY HISTORY; FEMALE; FIRST DEGREE RELATIVE; HEART RIGHT BUNDLE BRANCH BLOCK; HOLTER MONITORING; HUMAN; INFANT; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PATIENT REFERRAL; PREVALENCE; PROVOCATION TEST; RETROSPECTIVE STUDY; SCREENING; SECOND DEGREE RELATIVE; SUDDEN ARRHYTHMIC DEATH SYNDROME; SUDDEN CARDIAC DEATH; T WAVE INVERSION; ADULT; COMPLICATION; DEATH, SUDDEN, CARDIAC; GENETICS; HEART ARRHYTHMIA; HEART DISEASES; MIDDLE AGED; PRESCHOOL CHILD; SYNDROME;

ADOLESCENT; ADULT; ARRHYTHMIAS, CARDIAC; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; FEMALE; HEART DISEASES; HUMANS; INFANT; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; SYNDROME;

EID: 84915784527     PISSN: 01478389     EISSN: 15408159     Source Type: Journal    
DOI: 10.1111/pace.12479     Document Type: Article

References (16)

1. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, et al. HRS/EHRA/APHRS Expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes expert consensus statement on inherited primary arrhythmia syndromes: Document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Europace 2013; 15: 1389-1406.
2. Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Tome Esteban MT, Rowland E, et al. Sudden arrhythmic death syndrome: Familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 2008; 29: 1670-1680.
3. Behr E, Wood DA, Wright M, Syrris P, Sheppard MN, Casey A, Davies MJ, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet 2003; 362: 1457-1459.
4. Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA,. Sudden unexplained death: Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 2005; 112: 207-213.
5. Tomaske M, Keller DI, Bauersfeld U,. Sudden cardiac death: Clinical evaluation of paediatric family members. Europace 2011; 13: 421-426.
6. Papadakis M, Raju H, Behr ER, De Noronha SV, Spath N, Kouloubinis A, Sheppard MN, et al. Sudden cardiac death with autopsy findings of uncertain significance: Potential for erroneous interpretation. Circ Arrhythm Electrophysiol 2013; 6: 588-596.
7. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria. Circulation 2010; 121: 1533-1541.
8. McMillan MR, Day TG, Bartsota M, Mead-Regan S, Bryant R, Mangat J, Abrams D, et al. Feasibility and outcomes of ajmaline provocation testing for Brugada syndrome in children in a specialist paediatric inherited cardiovascular diseases centre. Open Heart 2014; 1: e000023.
9. Nunn LM, Lambiase PD,. Genetics and cardiovascular disease-causes and prevention of unexpected sudden adult death: The role of the SADS clinic. Heart 2011; 97: 1122-1127.
10. Clinical indications for genetic testing in familial sudden cardiac death syndromes: An HRUK position statement. Heart 2008; 94: 502-507.
11. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 2011; 13: 1077-1109.
12. Beery TA, Shooner KA, Benson DW,. Neonatal long QT syndrome due to a de novo dominant negative hERG mutation. Am J Crit Care 2007; 16: 412-415.
13. Giudicessi JR, Ackerman MJ,. Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet 2013; 6: 193-200.
14. Wedekind H, Smits JP, Schulze-Bahr E, Arnold R, Veldkamp MW, Bajanowski T, Borggrefe M, et al. De novo mutation in the SCN5A gene associated with early onset of sudden infant death. Circulation 2001; 104: 1158-1164.
15. Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC,. Compound mutations: A common cause of severe long-QT syndrome. Circulation. 2004; 109: 1834-1841.
16. Tester DJ, Ackerman MJ,. The molecular autopsy: Should the evaluation continue after the funeral? Pediatr Cardiol 2012; 33: 461-470.