Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction

Europace

Volumn 16, Issue 11, 2014, Pages 1646-1654

  Ohno, Seiko ^a   Omura, Masato ^b   Kawamura, Mihoko ^a   Kimura, Hiromi ^a   Itoh, Hideki ^a   Makiyama, Takeru ^c   Ushinohama, Hiroya ^d   Makita, Naomasa ^e   Horie, Minoru ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b Saiseikai Shimonoseki General Hospital   (Japan)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d FUKUOKA CHILDREN S HOSPITAL   (Japan)

^e NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

Author keywords

Bradycardia; Catecholaminergic polymorphic ventricular tachycardia; Genetic screening; Left ventricular non compaction; Multiplex ligation dependent probe amplification; RYR2 exon 3 deletion

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FLECAINIDE; RYANODINE RECEPTOR 2; VERAPAMIL; RYANODINE RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; ATRIOVENTRICULAR BLOCK; ATRIOVENTRICULAR DISSOCIATION; BRADYCARDIA; CARDIOVASCULAR MAGNETIC RESONANCE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COMPLETE HEART BLOCK; ECHOCARDIOGRAPHY; EMOTIONAL STRESS; EXON; FAINTNESS; FEMALE; GENE DELETION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; HEART ATRIUM FIBRILLATION; HEART RATE; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; INTRON; MALE; MIDDLE AGED; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PACEMAKER IMPLANTATION; POLYMERASE CHAIN REACTION; POLYMORPHIC VENTRICULAR TACHYCARDIA; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; SINUS BRADYCARDIA; SUPRAVENTRICULAR PREMATURE BEAT; T WAVE INVERSION; TREADMILL EXERCISE; VENTRICULAR NONCOMPACTION; VERY ELDERLY; CASE REPORT; COMPLICATION; DNA SEQUENCE; DOPPLER ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; GENETIC PREDISPOSITION; GENETICS; INFANT; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MULTIPLEX POLYMERASE CHAIN REACTION; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE;

ADOLESCENT; ADULT; AGED, 80 AND OVER; BRADYCARDIA; CHILD; CHILD, PRESCHOOL; ECHOCARDIOGRAPHY, DOPPLER, COLOR; ELECTROCARDIOGRAPHY; EXONS; FEMALE; GENE DELETION; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; ISOLATED NONCOMPACTION OF THE VENTRICULAR MYOCARDIUM; MALE; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE ANALYSIS, DNA; SYNCOPE; TACHYCARDIA, VENTRICULAR;

EID: 84899723980     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eut382     Document Type: Article

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