Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest

American Journal of Medical Genetics, Part A

Volumn 167, Issue 9, 2015, Pages 2197-2200

  Campbell, Matthew J ^a   Czosek, Richard J ^a   Hinton, Robert B ^a   Miller, Erin M ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Catecholaminergic polymorphic ventricular tachycardia; Left ventricular noncompaction; RYR2

Indexed keywords

DILTIAZEM; FLECAINIDE; METOPROLOL; NADOLOL; RYANODINE RECEPTOR; SOTALOL;

ADOLESCENT; ADULT; ARTICLE; ATRIAL FIBRILLATION; BASKETBALL; CARDIOVERSION; CASE REPORT; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; COLLAPSE; DANCING; DEFIBRILLATION; DISEASE SEVERITY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROCARDIOGRAM; EXERCISE; EXON; FAINTNESS; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEART CATHETERIZATION; HEART LEFT VENTRICLE EJECTION FRACTION; HEART MUSCLE BIOPSY; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE FIBRILLATION; HUMAN; INTENSIVE CARE; MYOCARDITIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESUSCITATION; RUNNING; RYR2 GENE; SINUS RHYTHM; SUDDEN CARDIAC DEATH; SUPRAVENTRICULAR TACHYCARDIA; SYMPATHECTOMY; VENTRICULAR NONCOMPACTION; YOUNG ADULT; DEATH, SUDDEN, CARDIAC; GENETICS; HEART ARRHYTHMIA; HEART VENTRICLE; HEART VENTRICLE TACHYCARDIA; PATHOLOGY;

ADULT; ARRHYTHMIAS, CARDIAC; DEATH, SUDDEN, CARDIAC; EXONS; FEMALE; HEART VENTRICLES; HUMANS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE DELETION; TACHYCARDIA, VENTRICULAR; YOUNG ADULT;

EID: 84939473792     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37140     Document Type: Article

References (8)

1. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Marec HL, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP. 2011. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace 13:1077-1109.
2. Bhuiyan ZA, Van den Berg MP, Van Tintelen JP, Bink-Boelkens MTE, Wiesfeld ACP, Alders M, Postma AV, Van Langen I, Mannens MMAM, Wilde AAM. 2007. Expanding spectrum of human RYR2-related disease: New electrocardiographic, structural, and genetic features. Circulation 116:1569-1576.
3. d'Amati G, Bagattin A, Bauce B, Rampazzo A, Autore C, Basso C, King K, Romeo MD, Gallo P, Thiene G, Danieli GA, Nava A. 2005. Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RYR2 gene mutation: Evidence of specific morphological substrates. Hum Pathol 36:761-767.
4. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MRG, Towbin JA. 2009. Genetic evaluation of cardiomyopathy-A heart failure society of America practice guideline. J Card Fail 1:83-97.
5. Liu N, Ruan Y, Priori SG. 2008. Catecholaminergic polymorphic ventricular tachycardia. Prog Cardiovasc Dis 51:23-30.
6. Oechslin E, Jenni R. 2011. Left ventricular noncompaction revisited: A distinct phenotype with genetic heterogeneity? Eur Heart J 32:1446-1456.
7. Ohno S, Omura M, Kawamura M, Kimura H, Itoh H, Makiyama T, Ushinohama H, Makita N, Horie M. 2014. Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction. Europace 16:1646-1654.
8. Tang Y, Tian X, Wang R, Michael Fill M, Chen SRW. 2012. Abnormal termination of Ca 2+ release is a common defect of RYR2 mutations associated with cardiomyopathies. Circ Res 110:968-977.