Journal article
Localization of a Gene Responsible for Arrhythmogenic Right Ventricular Dysplasia to Chromosome 3p23
Circulation (New York, N.Y.), Vol.98(25), pp.2791-2795
12/22/1998
DOI: 10.1161/01.CIR.98.25.2791
PMID: 9860777
Abstract
Background: Arrhythmogenic right ventricular dysplasia (ARVD), a familial cardiomyopathy occurring with a prevalence of 1 in 5000, is characterized by replacement of myocytes with fatty and fibrous tissue. Clinical manifestations include structural and functional abnormalities of the right ventricle and arrhythmias, leading to a sudden death rate of 2.5% per year. Four loci have been mapped, but no gene has been identified as yet.
Methods and results: We identified a large family of >200 members with ARVD segregating as an autosomal dominant trait affecting 10 living individuals. The diagnosis of ARVD was based on international diagnostic criteria including history, physical examination, ECG, echocardiogram, right ventricular angiogram, endomyocardial biopsy, and 24-hour ambulatory ECG. Blood was collected for DNA from 149 family members. Analysis of 257 polymorphic microsatellite markers by genetic linkage excluded previously known loci for ARVD and identified a novel locus at 3p23. Analysis of an additional 20 markers further defined the region. A peak logarithm of the odds score of 6.91 was obtained with marker D3S3613 at theta=0% recombination. Haplotype analysis identified a shared region between markers D3S3610 and D3S3659 of 9. 3 cM.
Conclusions: A novel locus for ARVD has been mapped to 3p23 and the region narrowed to 9.3 cM. Identification of the gene will allow genetic screening and a specific diagnosis for a disease with protean nonspecific findings. It should also provide insight fundamental to understanding cardiac chamber-specific gene expression and/or the mechanism of myocyte apoptosis observed in this disease.
Details
- Title: Subtitle
- Localization of a Gene Responsible for Arrhythmogenic Right Ventricular Dysplasia to Chromosome 3p23
- Creators
- Ferhaan Ahmad - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Duanxiang Li - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Akihiko Karibe - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Oscar Gonzalez - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Terry Tapscott - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Rita Hill - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Donald Weilbaecher - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Peter Blackie - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Michael Furey - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Martin Gardner - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Linda L Bachinski - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)Robert Roberts - From the Section of Cardiology (F.A., D.L., A.K., O.G., T.T., R.H., L.L.B., R.R.), the Department of Pathology (D.W.), and the Graduate Program in Cardiovascular Sciences, the DeBakey Heart Center (F.A.), Baylor College of Medicine, Houston, Tex; the James Paton Memorial Hospital, Gander (P.B.), and the Division of Cardiology, Memorial University of Newfoundland, St John’s (M.F.), Newfoundland, Canada; and the Division of Cardiology, Dalhousie University, Halifax, Nova Scotia, Canada (M.G.)
- Resource Type
- Journal article
- Publication Details
- Circulation (New York, N.Y.), Vol.98(25), pp.2791-2795
- DOI
- 10.1161/01.CIR.98.25.2791
- PMID
- 9860777
- NLM abbreviation
- Circulation
- ISSN
- 0009-7322
- eISSN
- 1524-4539
- Publisher
- Lippincott Williams & Wilkins
- Language
- English
- Date published
- 12/22/1998
- Academic Unit
- Radiology; Molecular Physiology and Biophysics; Cardiovascular Medicine; Fraternal Order of Eagles Diabetes Research Center; Internal Medicine
- Record Identifier
- 9984025679902771
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