Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2009-11-25
pubmed:abstractText
Three decades of ongoing research into the identification of genes responsible for both cardiomyopathies and ion channel diseases has facilitated a progressive understanding of the pathophysiology of inherited arrhythmogenic diseases. Recent discoveries in the area of genetics promise to significantly change the current clinical practice of cardiology, as rapid advances in technology and a coincident reduction of costs associated with sequencing have pushed the "translation" of genomic information from bench to bedside. In turn, clinicians have at their disposal new tools for more accurate diagnosis of diseases, as well as for better calculation of health risks for affected families. It is clear, however, that the integration of genetic analysis into frontline clinical cardiology has not yet occurred, especially for heritable cardiomyopathic processes; no one simplified method exists for diagnosing these complex cardiac disease states. It therefore is important to assess the present and future roles of genetic analysis and counseling in clinical practice and how to assist the transition of genetic screening into current care to ensure the appropriate practical use of genetic tests in the routine clinical setting. The purpose of this discussion is to provide a concise review of recent developments in the field of heritable cardiomyopathies, with specific regard to genetic testing and genetic counseling.
pubmed:language
eng
pubmed:journal
pubmed:status
PubMed-not-MEDLINE
pubmed:month
Dec
pubmed:issn
1534-3189
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
433-46
pubmed:year
2009
pubmed:articleTitle
The genetics of cardiomyopathy: genotyping and genetic counseling.
pubmed:affiliation
New York University Langone Medical Center, Leon H. Carney Division of Cardiology, Smilow Research Building, Room 701, 522 First Avenue, New York, NY 10016, USA.
pubmed:publicationType
Journal Article