Research Topics
Genomes and GenesSpecies | Ray HershbergerSummaryAffiliation: University of Miami Country: USA Publications
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Publications
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathyRay E Hershberger
University of Miami Miller School of Medicine, Fla 33136, USA
Circ Cardiovasc Genet 3:155-61. 2010..We have previously resequenced 9 genes in a cohort of idiopathic or familial DCM probands for rare variants, and now we report resequencing results for 5 more genes with established relationships to DCM...
Update 2011: clinical and genetic issues in familial dilated cardiomyopathyRay E Hershberger
Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, 1501 NW 10th Avenue, Miami, FL 33136, USA
J Am Coll Cardiol 57:1641-9. 2011..Guidelines for evaluation and testing of FDC and IDC are now available, and when combined with FDC genetic testing and counseling, will bring FDC/IDC genetics to the forefront of cardiovascular genetic medicine...
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionalsRay E Hershberger
Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida 33136, USA
Genet Med 12:655-67. 2010..g., DNA structural variants, epigenetics, mitochondrial mutations and others) are operative in DCM. We suggest that such new knowledge will lead to novel approaches to the prevention and treatment of DCM...
Cardiovascular genetic medicine: evolving concepts, rationale, and implementationRay E Hershberger
Cardiovascular Division, Clinical Research Building, Miller School of Medicine, University of Miami, Miami, FL 33101, USA
J Cardiovasc Transl Res 1:137-43. 2008..Cardiovascular genetic medicine programs also anchor training and research, thereby enabling the next generation of academic specialists in cardiovascular genetic medicine to continue to improve cardiovascular health...
Rare variant mutations in pregnancy-associated or peripartum cardiomyopathyAna Morales
University of Miami Miller School of Medicine, 1501 NW 10th Ave, Miami, FL 33136, USA
Circulation 121:2176-82. 2010..An alternative hypothesis is that PPCM and PACM result, in part, from a genetic cause. In this study, we sought to test the hypothesis that rare DCM-associated mutations underlie a proportion of PACM or PPCM cases...
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathyRay E Hershberger
Division of Cardiovascular Medicine, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Circ Cardiovasc Genet 2:306-13. 2009..This is critically important as genetic DCM, usually presenting with advanced, life-threatening disease, may be preventable with early intervention in relatives known to carry the mutation...
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathyRay E Hershberger
Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla 33136, USA
Circ Heart Fail 2:253-61. 2009..Genetic counseling is also indicated for patients and their family members regarding the symptoms of their cardiomyopathy, its inheritance pattern, family screening recommendations, and genetic testing options and possible results...
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathyRay E Hershberger
Division of Cardiovascular Medicine, Department of Medicine, Oregon Health and Science University, Portland, Oregon, USA
Clin Transl Sci 1:21-6. 2008..More than 20 genes have been reported to cause idiopathic and familial dilated cardiomyopathy (IDC/FDC), but the frequency of genetic causation remains poorly understood...
Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guidelineRay E Hershberger
Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Florida 33101 5138, USA
J Card Fail 15:83-97. 2009..Hence the clinical and genetic knowledge for each cardiomyopathy varies, as do the recommendations and strength of evidence...
Common susceptibility variants examined for association with dilated cardiomyopathyEvadnie Rampersaud
Hussman Institute for Human Genomics, Department of Human Genetics, University of Miami, Miami, FL, USA
Ann Hum Genet 74:110-6. 2010..Our results suggest that examination of common genetic variants may be warranted in future studies of DCM and other Mendelian-like disorders...
Family history: an essential tool for cardiovascular genetic medicineAna Morales
Division of Cardiology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Congest Heart Fail 14:37-45. 2008..Please also give us your feedback, especially to improve the clarity, diversity, and timeliness of the genetic concepts presented. So, away we go...
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathyJason Cowan
Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Circ Cardiovasc Genet 3:6-14. 2010....
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathySharie B Parks
Division of Cardiovascular Medicine, Oregon Health and Science University, Portland, OR, USA
Am Heart J 156:161-9. 2008..We sought to examine the frequency of mutations in LMNA, the gene encoding lamin A/C, in patients with idiopathic (IDC) or familial dilated cardiomyopathy (FDC)...
The family history as a tool to identify patients at risk for dilated cardiomyopathyDeirdre Nauman
Department of Medicine, Oregon Health and Science University, Portland, OR, USA
Prog Cardiovasc Nurs 23:41-4. 2008
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantationRay E Hershberger
Department of Medicine, Oregon Health and Science University, Portland, Ore 97201, USA
Am Heart J 144:1081-6. 2002..Each family reported to date has a unique mutation and variable degrees of cardiac conduction system, dilated cardiomyopathy, or skeletal muscle disease...
Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathyKathy A Crispell
Department of Medicine/Cardiology, Oregon Health and Science University, Portland, Oregon 97201, USA
J Am Coll Cardiol 39:1503-7. 2002..CONCLUSIONS: Considerable vigilance for disease presentation and progression is indicated in at-risk members of a kindred with FDC, especially those with incipient FDC...
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathyDuanxiang Li
Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Florida, USA
Clin Transl Sci 3:90-7. 2010..This article concludes that DCM in patients with RBM20 mutations is associated with advanced disease...
Clinical and genetic issues in familial dilated cardiomyopathyEmily L Burkett
Division of Cardiology, Department of Medicine, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OT 97239, USA
J Am Coll Cardiol 45:969-81. 2005..Genetic testing is not yet commonly available, but its emergence will provide new opportunities for presymptomatic diagnosis...
Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendationsJason Cowan
Cardiovascular Division, University of Miami Miller School of Medicine, Miami, FL 33136, USA
Congest Heart Fail 14:97-105. 2008..We also provide our preliminary recommendations for genetic testing in cardiovascular genetic medicine...
Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathyJessica D Kushner
Division of Cardiology, Department of Medicine, Oregon Health and Science University, Portland, Oregon 97239, USA
J Card Fail 12:422-9. 2006..CONCLUSION: Clinical characteristics of IDC and FDC are similar, precluding an FDC diagnosis from clinical features only...
Mutations of presenilin genes in dilated cardiomyopathy and heart failureDuanxiang Li
Familial Dilated Cardiomyopathy Research Program, Division of Cardiovascular Medicine and the Department of Medicine, Oregon Health and Science University, Portland, OR 97239, USA
Am J Hum Genet 79:1030-9. 2006..These data indicate that PSEN1 and PSEN2 mutations are associated with DCM and heart failure and implicate novel mechanisms of myocardial disease...
Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathyEmily L Hanson
Department of Medicine, Oregon Health Sciences University, Portland, OR 97201, USA
J Card Fail 8:28-32. 2002..Sudden-onset, rapidly progressive disease was observed in younger individuals. CONCLUSIONS: Cardiac troponin T exon 13 lysine deletions can cause FDC of varying severity and are an important but uncommon cause of FDC...
Becker's muscular dystrophy and orthotopic heart transplantation: perioperative considerationsChristopher B Komanapalli
Department of Surgery, Division of Cardiothoracic Surgery, Oregon Health and Science University, Portland, Oregon 97239, USA
Heart Surg Forum 9:E604-6. 2006..We reviewed our recent experience with Becker's muscular dystrophy patients and discuss the management of perioperative issues specific to this patient group...
Cardiac magnetic resonance imaging of myocardial contrast uptake and blood flow in patients affected with idiopathic or familial dilated cardiomyopathyMichael Jerosch-Herold
Division of Cardiology, Department of Medicine, Oregon Health and Science University, Portland, Oregon, USA
Am J Physiol Heart Circ Physiol 295:H1234-H1242. 2008..56; P = 0.019). The expansion of the extracellular space correlated with reduced MBF and ventricular dilation. Expansion of the extracellular matrix may be a key contributor to contractile dysfunction in IDC patients...
Research Grants
- Familial Dilated Cardiomyopathy: Detection/Gene MappingRay Hershberger; Fiscal Year: 2009..We aim to identify more of the disease genes, which will lead to greater understanding of the causes of human heart failure. ..
- Familial Dilated Cardiomyopathy: Detection/Gene MappingRay Hershberger; Fiscal Year: 2006..We further propose to (2) map the genes responsible for FDC in several FDC pedigrees, of which linkage and additional gene mapping studies are in progress. ..
- FAMILIAL DILATED CARDIOMYOPATHY--DETECTION/GENE MAPPINGRay Hershberger; Fiscal Year: 2000..Preliminary data suggest that OHSU FDC-1 links to neither of the recently reported cardiomyopathy chromosomal locations, suggesting that an additional locus for FDC is present. ..
- Familial Dilated Cardiomyopathy: Detection/Gene MappingRay E Hershberger; Fiscal Year: 2010..We aim to identify more of the disease genes, which will lead to greater understanding of the causes of human heart failure. ..
