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Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy
Joint Authors
Hong, Charles C.
Harris, Bronwyn
Silverstein, Cheri A.
Pfotenhauer, Jean P.
Markham, Larry W.
Exil, Vernat J.
Schafer, Kim
Source
Cardiology Research and Practice
Issue
Vol. 2010, Issue 2010 (31 Dec. 2010), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-03-11
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Harris, Bronwyn& Pfotenhauer, Jean P.& Silverstein, Cheri A.& Markham, Larry W.& Schafer, Kim& Exil, Vernat J.…[et al.]. 2010. Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy. Cardiology Research and Practice،Vol. 2010, no. 2010, pp.1-4.
https://search.emarefa.net/detail/BIM-491429
Modern Language Association (MLA)
Harris, Bronwyn…[et al.]. Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy. Cardiology Research and Practice No. 2010 (2010), pp.1-4.
https://search.emarefa.net/detail/BIM-491429
American Medical Association (AMA)
Harris, Bronwyn& Pfotenhauer, Jean P.& Silverstein, Cheri A.& Markham, Larry W.& Schafer, Kim& Exil, Vernat J.…[et al.]. Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy. Cardiology Research and Practice. 2010. Vol. 2010, no. 2010, pp.1-4.
https://search.emarefa.net/detail/BIM-491429
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-491429