Arrhythmogenic Ventricular Cardiomyopathy
After a 20-year-old woman suddenly died, autopsy showed characteristic findings of biventricular arrhythmogenic cardiomyopathy. Screening of her family members revealed the same desmoplakin gene mutation and imaging abnormalities predominantly involving the left ventricle. We describe the variable p...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-03-01
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| Series: | JACC: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666084920314613 |
| _version_ | 1830135391970131968 |
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| author | Aranyak S. Rawal, MD Tara VanCleave, BS Neeraja Yedlapati, MD Jeffery E. Saffitz, MD, PhD William James Craigen, MD, PhD John L. Jefferies, MD, MPH |
| author_facet | Aranyak S. Rawal, MD Tara VanCleave, BS Neeraja Yedlapati, MD Jeffery E. Saffitz, MD, PhD William James Craigen, MD, PhD John L. Jefferies, MD, MPH |
| author_sort | Aranyak S. Rawal, MD |
| collection | DOAJ |
| description | After a 20-year-old woman suddenly died, autopsy showed characteristic findings of biventricular arrhythmogenic cardiomyopathy. Screening of her family members revealed the same desmoplakin gene mutation and imaging abnormalities predominantly involving the left ventricle. We describe the variable phenotypic expression in a family that shares a common gene variant. (Level of Difficulty: Advanced.) |
| first_indexed | 2024-12-17T07:30:57Z |
| format | Article |
| id | doaj.art-94b605f6c91c474b8bc5824d2a11cec5 |
| institution | Directory Open Access Journal |
| issn | 2666-0849 |
| language | English |
| last_indexed | 2024-12-17T07:30:57Z |
| publishDate | 2021-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JACC: Case Reports |
| spelling | doaj.art-94b605f6c91c474b8bc5824d2a11cec52022-12-21T21:58:30ZengElsevierJACC: Case Reports2666-08492021-03-0133438442Arrhythmogenic Ventricular CardiomyopathyAranyak S. Rawal, MD0Tara VanCleave, BS1Neeraja Yedlapati, MD2Jeffery E. Saffitz, MD, PhD3William James Craigen, MD, PhD4John L. Jefferies, MD, MPH5Department of Internal Medicine and Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USADepartment of Cardiology, Sutherland Cardiology Clinic, Memphis, Tennessee, USADepartment of Cardiology, University of Tennessee Health Science Center, Memphis, Tennessee, USADepartment of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USADepartment of Genetics, Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USADepartment of Cardiology, University of Tennessee Health Science Center, Memphis, Tennessee, USA; Address for correspondence: Dr. John L Jefferies, Department of Cardiology, University of Tennessee Health Science Center, 956 Court Avenue, Suite A312A, Memphis, Tennessee 38163, USA.After a 20-year-old woman suddenly died, autopsy showed characteristic findings of biventricular arrhythmogenic cardiomyopathy. Screening of her family members revealed the same desmoplakin gene mutation and imaging abnormalities predominantly involving the left ventricle. We describe the variable phenotypic expression in a family that shares a common gene variant. (Level of Difficulty: Advanced.)http://www.sciencedirect.com/science/article/pii/S2666084920314613cardiac magnetic resonancecardiomyopathyechocardiographygenetic disordersphenotype |
| spellingShingle | Aranyak S. Rawal, MD Tara VanCleave, BS Neeraja Yedlapati, MD Jeffery E. Saffitz, MD, PhD William James Craigen, MD, PhD John L. Jefferies, MD, MPH Arrhythmogenic Ventricular Cardiomyopathy JACC: Case Reports cardiac magnetic resonance cardiomyopathy echocardiography genetic disorders phenotype |
| title | Arrhythmogenic Ventricular Cardiomyopathy |
| title_full | Arrhythmogenic Ventricular Cardiomyopathy |
| title_fullStr | Arrhythmogenic Ventricular Cardiomyopathy |
| title_full_unstemmed | Arrhythmogenic Ventricular Cardiomyopathy |
| title_short | Arrhythmogenic Ventricular Cardiomyopathy |
| title_sort | arrhythmogenic ventricular cardiomyopathy |
| topic | cardiac magnetic resonance cardiomyopathy echocardiography genetic disorders phenotype |
| url | http://www.sciencedirect.com/science/article/pii/S2666084920314613 |
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