Linked Life Data

18052993

Source:http://linkedlifedata.com/resource/pubmed/id/18052993

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2008-1-18
pubmed:abstractText
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases. CONCLUSION: Due to its potential lethal outcome, exclusion or confirmation of catecholaminergic polymorphic ventricular tachycardia in children with physical and emotional syncope is mandatory. We report a case of catecholaminergic polymorphic ventricular tachycardia in a three-year-old child only diagnosed by genetic mapping.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0803-5253
pubmed:author
pubmed:issnType
Print
pubmed:volume
97
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
127-9
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Catecholaminergic polymorphic ventricular tachycardia in a child: a case report.
pubmed:affiliation
Department of Pediatric Cardiology, University Hospital Gent, Belgium.
pubmed:publicationType
Journal Article, Case Reports