Linked Life Data

20569525

Source:http://linkedlifedata.com/resource/pubmed/id/20569525

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-9-2
pubmed:abstractText
Here, we report an infantile case of ventricular septal defect and restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. Initially diagnosed with a perimembranous ventricular septal defect in the newborn period, we observed the first signs of restrictive cardiomyopathy at the age of 18 months. The patient was listed for cardiac transplantation at the age of 8 years despite optimal medical treatment. The finding of a de novo mutation in TNNI3 (R204H) enabled a genetic diagnosis and counselling. We suggest that the previously reported overlap of functional and morphologic phenotypes in sarcomeric genes may also be a feature of TNNI3 mutations.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1467-1107
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
574-6
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier.
pubmed:affiliation
Department of Pediatrics, Sainte Justine Hospital, University of Montréal, Quebec, Canada.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't