Linked Life Data

9835779

Source:http://linkedlifedata.com/resource/pubmed/id/9835779

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1998-12-30
pubmed:abstractText
The impact of molecular genetics in the diagnosis and management of various forms of heritable cardiac or vascular disorders is continuously increasing thanks to the newly available laboratory tools. Familial hypertrophic cardiomyopathy (FHC), an autosomal dominant inherited disease characterized by unexplained left ventricular hypertrophy and a wide range of clinical symptoms, is the first cardiac disorder whose genetic bases have been elucidated. Linkage analysis studies have shown a statistically significant association between the disease status and at least seven genetic loci, all coding for sarcomeric proteins, in unrelated kindreds. A major challenge for physicians is to make an accurate and early diagnosis, not only on the basis of the traditional tools (i.e. physical examination and electro-echocardiography) but also to focus on the impact of genotype on clinical manifestations of FHC. In this review we present the more recent findings on the genetic basis of FHC and analyze the genotype-phenotype correlations of this disorder, whose expression may be modulated by additional factors (modifier genes, genetic background, environmental factors) other than mutations in any of the sarcometric proteins.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0870-2551
pubmed:author
pubmed:issnType
Print
pubmed:volume
17 Suppl 2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
II21-31
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Familial hypertrophic cardiomiopathy: molecular basis and genotype-phenotype correlations.
pubmed:affiliation
Department of Experimental and Clinical Medicine, G. Salvatore Medical School. cuda_g@abramo.it
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't