domingo, 8 de abril de 2012

Genetic testing for dilated cardiomyopathy in cl... [J Card Fail. 2012] - PubMed - NCBI

Genetic testing for dilated cardiomyopathy in cl... [J Card Fail. 2012] - PubMed - NCBI

J Card Fail. 2012 Apr;18(4):296-303. Epub 2012 Feb 15.

Genetic testing for dilated cardiomyopathy in clinical practice.

Source

Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.

Abstract

BACKGROUND:

Familial involvement is common in dilated cardiomyopathy (DCM) and >40 genes have been implicated in causing disease. However, the role of genetic testing in clinical practice is not well defined. We examined the experience of clinical genetic testing in a diverse DCM population to characterize the prevalence and predictors of gene mutations.

METHODS AND RESULTS:

We studied 264 unrelated adult and pediatric DCM index patients referred to 1 reference lab for clinical genetic testing. Up to 10 genes were analyzed (MYH7, TNNT2, TNNI3, TPM1, MYBPC3, ACTC, LMNA, PLN, TAZ, and LDB3), and 70% of patients were tested for all genes. The mean age was 26.6 ± 21.3 years, and 52% had a family history of DCM. Rigorous criteria were used to classify DNA variants as clinically relevant (mutations), variants of unknown clinical significance (VUS), or presumed benign. Mutations were found in 17.4% of patients, commonly involving MYH7, LMNA, or TNNT2 (78%). An additional 10.6% of patients had VUS. Genetic testing was rarely positive in older patients without a family history of DCM. Conversely in pediatric patients, family history did not increase the sensitivity of genetic testing.

CONCLUSIONS:

Using rigorous criteria for classifying DNA variants, mutations were identified in 17% of a diverse group of DCM index patients referred for clinical genetic testing. The low sensitivity of genetic testing in DCM reflects limitations in both current methodology and knowledge of DCM-associated genes. However, if mutations are identified, genetic testing can help guide family management.
Copyright © 2012 Elsevier Inc. All rights reserved.
PMID:
22464770
[PubMed - in process]

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