Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy
A 24-year-old man with muscle cramps and a family history of sudden death presented with palpitations. Electrocardiography showed signs of left ventricular hypertrophy and nonsustained ventricular tachycardia, and imaging studies confirmed hypertrophic cardiomyopathy. Genetic testing revealed a nove...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-03-01
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| Series: | JACC: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666084919306692 |
| _version_ | 1819098050817163264 |
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| author | M. Scott Binder, MD Emily Brown, MGC, CGC Thomas Aversano, MD Kathryn R. Wagner, MD, PhD Hugh Calkins, MD Andreas S. Barth, MD, PhD |
| author_facet | M. Scott Binder, MD Emily Brown, MGC, CGC Thomas Aversano, MD Kathryn R. Wagner, MD, PhD Hugh Calkins, MD Andreas S. Barth, MD, PhD |
| author_sort | M. Scott Binder, MD |
| collection | DOAJ |
| description | A 24-year-old man with muscle cramps and a family history of sudden death presented with palpitations. Electrocardiography showed signs of left ventricular hypertrophy and nonsustained ventricular tachycardia, and imaging studies confirmed hypertrophic cardiomyopathy. Genetic testing revealed a novel FHL1 mutation associated with Emery-Dreifuss muscular dystrophy. An implantable cardioverter-defibrillator was placed. (Level of Difficulty: Advanced.) |
| first_indexed | 2024-12-22T00:24:50Z |
| format | Article |
| id | doaj.art-cecf8c83950d4bdfbb37f2e5ed9f0c83 |
| institution | Directory Open Access Journal |
| issn | 2666-0849 |
| language | English |
| last_indexed | 2024-12-22T00:24:50Z |
| publishDate | 2020-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JACC: Case Reports |
| spelling | doaj.art-cecf8c83950d4bdfbb37f2e5ed9f0c832022-12-21T18:45:05ZengElsevierJACC: Case Reports2666-08492020-03-0123372377Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and MyopathyM. Scott Binder, MD0Emily Brown, MGC, CGC1Thomas Aversano, MD2Kathryn R. Wagner, MD, PhD3Hugh Calkins, MD4Andreas S. Barth, MD, PhD5Department of Medicine, Johns Hopkins Bayview Medical Center, Johns Hopkins University, Baltimore, Maryland; Address for correspondence: Dr. M. Scott Binder, Johns Hopkins Bayview Medical Center, 5200 Eastern Avenue, Mason F. Lord Building Center Tower, 3rd floor, Room 342, Baltimore, Maryland 21224.Division of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, MarylandDivision of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, MarylandCenter of Genetic Muscle Disease, Kennedy Krieger Institute, Baltimore, Maryland; Departments of Neurology and Neuroscience, The Johns Hopkins School of Medicine, Baltimore, MarylandDivision of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, MarylandDivision of Cardiology, Department of Medicine, The Johns Hopkins Hospital, Johns Hopkins University, Baltimore, MarylandA 24-year-old man with muscle cramps and a family history of sudden death presented with palpitations. Electrocardiography showed signs of left ventricular hypertrophy and nonsustained ventricular tachycardia, and imaging studies confirmed hypertrophic cardiomyopathy. Genetic testing revealed a novel FHL1 mutation associated with Emery-Dreifuss muscular dystrophy. An implantable cardioverter-defibrillator was placed. (Level of Difficulty: Advanced.)http://www.sciencedirect.com/science/article/pii/S2666084919306692cardiomyopathychest paincongenital heart defectelectrophysiologygenetic disorders |
| spellingShingle | M. Scott Binder, MD Emily Brown, MGC, CGC Thomas Aversano, MD Kathryn R. Wagner, MD, PhD Hugh Calkins, MD Andreas S. Barth, MD, PhD Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy JACC: Case Reports cardiomyopathy chest pain congenital heart defect electrophysiology genetic disorders |
| title | Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy |
| title_full | Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy |
| title_fullStr | Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy |
| title_full_unstemmed | Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy |
| title_short | Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy |
| title_sort | novel fhl1 mutation associated with hypertrophic cardiomyopathy sudden cardiac death and myopathy |
| topic | cardiomyopathy chest pain congenital heart defect electrophysiology genetic disorders |
| url | http://www.sciencedirect.com/science/article/pii/S2666084919306692 |
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