Linked Life Data

9588538

Source:http://linkedlifedata.com/resource/pubmed/id/9588538

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-7-27
pubmed:abstractText
Involvement of the cardiac conduction system is a common clinical feature in myotonic dystrophy, whereas the association of primary myocardial abnormalities has rarely been reported. A patient with a severe form of congenital myotonic dystrophy who developed fatal left ventricular hypertrophy at 3 months of age and died at 2 years of age is reported. Serial ultrasonographic studies revealed progressive left ventricular hypertrophy accompanied by outflow obstruction of the left ventricle. Southern analysis for the myotonin kinase gene revealed a 5.8 kb expansion of CTG repeats in addition to a fragment of normal length. The degree of expansion was much greater than those of other reported patients with congenital myotonic dystrophy. These findings suggest that left ventricular hypertrophy represents an extreme level of myocardial damage in myotonic dystrophy and that this damage may be related to the larger size of the CTG repeats.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0887-8994
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
366-9
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Hypertrophic cardiomyopathy in congenital myotonic dystrophy.
pubmed:affiliation
Department of Pediatrics, Jichi Medical School, Minamikawachi, Tochigi, Japan.
pubmed:publicationType
Journal Article, Case Reports