Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy.
Publication/Presentation Date
1-1-2010
Abstract
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an autosomal dominant mode of transmission. Comprehensive genetic screening of several genes frequently found mutated in HCM is recommended for first-degree relatives of HCM patients. Genetic testing provides the means to identify those at risk of developing HCM and to institute measures to prevent sudden cardiac death (SCD). Here, we present an adoptee whose natural mother and maternal relatives were known be afflicted with HCM and SCD. The proband was followed closely from age 6 to 17 years, revealing a natural history of the progression of clinical findings associated with HCM. Genetic testing of the proband and her natural mother, who is affected by HCM, revealed that they were heterozygous for both the R719Q and T1513S variants in the cardiac beta-myosin heavy chain (MYH7) gene. The proband's ominous family history indicates that the combination of the R719Q and T1513S variants in cis may be a "malignant" variant that imparts a poor prognosis in terms of the disease progression and SCD risk.
Volume
2010
First Page
697269
Last Page
697269
ISSN
2090-0597
Published In/Presented At
Harris, B., Pfotenhauer, J. P., Silverstein, C. A., Markham, L. W., Schafer, K., Exil, V. J., & Hong, C. C. (2010). Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy. Cardiology research and practice, 2010, 697269. https://doi.org/10.4061/2010/697269
Disciplines
Medicine and Health Sciences
PubMedID
20309391
Department(s)
Department of Medicine, Cardiology Division
Document Type
Article