Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report
<p>Abstract</p> <p>Introduction</p> <p>Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-lim...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2009-07-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/3/1/8625 |
| _version_ | 1811251918074281984 |
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| author | Wakefield Seth E Dimberg Elliot L Moore Steven A Tseng Brian S |
| author_facet | Wakefield Seth E Dimberg Elliot L Moore Steven A Tseng Brian S |
| author_sort | Wakefield Seth E |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Introduction</p> <p>Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-limiting genetic disorder. This group of disorders is generally considered to be a pediatric muscular dystrophy when in actual fact, this case report may represent a spectrum of subclinically affected adults.</p> <p>Case presentation</p> <p>We present the diagnostic saga of a 34-year-old Caucasian man who had two liver biopsies for elevated liver enzymes and 16 years later presented with a cardiac arrhythmia amidst an emergent appendectomy which finally led to his specific genetic diagnosis.</p> <p>Conclusions</p> <p>This genetic disorder can affect more than one organ, and in our patient affected both skeletal and cardiac muscle. Furthermore, liver function tests when elevated may erroneously implicate a liver disorder when they actually reflect cardiac and skeletal muscle origin. Presented here is a patient with Becker's muscular dystrophy and cardiomyopathy.</p> |
| first_indexed | 2024-04-12T16:26:16Z |
| format | Article |
| id | doaj.art-22a72c479dc943428e3dc22833530ade |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-12T16:26:16Z |
| publishDate | 2009-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-22a72c479dc943428e3dc22833530ade2022-12-22T03:25:21ZengBMCJournal of Medical Case Reports1752-19472009-07-0131862510.4076/1752-1947-3-8625Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case reportWakefield Seth EDimberg Elliot LMoore Steven ATseng Brian S<p>Abstract</p> <p>Introduction</p> <p>Important clues in the recognition of individuals with dystrophin gene mutations are illuminated in this case report. In particular, this report seeks to broaden the perspective of early signs and symptoms of a potentially life-limiting genetic disorder. This group of disorders is generally considered to be a pediatric muscular dystrophy when in actual fact, this case report may represent a spectrum of subclinically affected adults.</p> <p>Case presentation</p> <p>We present the diagnostic saga of a 34-year-old Caucasian man who had two liver biopsies for elevated liver enzymes and 16 years later presented with a cardiac arrhythmia amidst an emergent appendectomy which finally led to his specific genetic diagnosis.</p> <p>Conclusions</p> <p>This genetic disorder can affect more than one organ, and in our patient affected both skeletal and cardiac muscle. Furthermore, liver function tests when elevated may erroneously implicate a liver disorder when they actually reflect cardiac and skeletal muscle origin. Presented here is a patient with Becker's muscular dystrophy and cardiomyopathy.</p>http://www.jmedicalcasereports.com/content/3/1/8625 |
| spellingShingle | Wakefield Seth E Dimberg Elliot L Moore Steven A Tseng Brian S Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report Journal of Medical Case Reports |
| title | Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report |
| title_full | Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report |
| title_fullStr | Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report |
| title_full_unstemmed | Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report |
| title_short | Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report |
| title_sort | dystrophinopathy presenting with arrhythmia in an asymptomatic 34 year old man a case report |
| url | http://www.jmedicalcasereports.com/content/3/1/8625 |
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