Yield of genetic testing in hypertrophic cardiomyopathy

Sara L. Van Driest, Steve R. Ommen, A. Jame Tajik, Bernard J. Gersh, Michael John Ackerman

Research output: Contribution to journalArticle

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Abstract

OBJECTIVE: To determine the clinical parameters of hypertrophic cardiomyopathy (HCM) that correlated significantly with the presence of an identifiable sarcomeric mutation. PATIENTS AND METHODS: Previous comprehensive mutational analyses of all protein-coding exons of 8 sarcomeric genes revealed pathogenic mutations in 147 (38%) of 389 unrelated patients seen at the HCM outpatient clinic at the Mayo Clinic in Rochester, Minn, between April 1997 and December 2001. Clinical data, extracted from patient records and blinded to patient genotype, were maintained in a custom database. RESULTS: In 389 unrelated patients, younger age at diagnosis, family history of HCM, and Increasing left ventricular wall thickness were all associated with increased likelihood of identifying an HCM-associated sarcomeric mutation. In contrast, family history of sudden cardiac death, myectomy status, and anatomical subtype did not correlate significantly with genotype-positive status. With use of a simple scoring system based on age at diagnosis, left ventricular wall thickness, and family history of HCM, the likelihood of a sarcomeric mutation could be estimated. CONCLUSION: Clinical predictors of positive genotype, such as the presence of an implantable cardioverter-defibrillator, age at diagnosis, degree of left ventricular wall hypertrophy, and family history of HCM, may aid in patient selection for genetic testing and increase the yield of cardiac sarcomere gene screening.

Original languageEnglish (US)
Pages (from-to)739-744
Number of pages6
JournalMayo Clinic Proceedings
Volume80
Issue number6
StatePublished - 2005

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Hypertrophic Cardiomyopathy
Genetic Testing
Mutation
Genotype
Sarcomeres
Implantable Defibrillators
Sudden Cardiac Death
Left Ventricular Hypertrophy
Ambulatory Care Facilities
Patient Selection
Genes
Exons
Databases
Proteins

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Van Driest, S. L., Ommen, S. R., Tajik, A. J., Gersh, B. J., & Ackerman, M. J. (2005). Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clinic Proceedings, 80(6), 739-744.

Yield of genetic testing in hypertrophic cardiomyopathy. / Van Driest, Sara L.; Ommen, Steve R.; Tajik, A. Jame; Gersh, Bernard J.; Ackerman, Michael John.

In: Mayo Clinic Proceedings, Vol. 80, No. 6, 2005, p. 739-744.

Research output: Contribution to journalArticle

Van Driest, SL, Ommen, SR, Tajik, AJ, Gersh, BJ & Ackerman, MJ 2005, 'Yield of genetic testing in hypertrophic cardiomyopathy', Mayo Clinic Proceedings, vol. 80, no. 6, pp. 739-744.
Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clinic Proceedings. 2005;80(6):739-744.
Van Driest, Sara L. ; Ommen, Steve R. ; Tajik, A. Jame ; Gersh, Bernard J. ; Ackerman, Michael John. / Yield of genetic testing in hypertrophic cardiomyopathy. In: Mayo Clinic Proceedings. 2005 ; Vol. 80, No. 6. pp. 739-744.
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