Abstract | BACKGROUND: Mutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM) and may also lead to dilated cardiomyopathy (DCM). MYBPC3 mutations initially were considered to cause a benign form of HCM. The aim of this study was to examine the clinical outcome of patients and their relatives with 18 different MYBPC3 mutations. METHODS: 87 patients with HCM and 71 patients with DCM were screened for MYBPC3 mutations by denaturing gradient gel electrophoresis and sequencing. Close relatives of mutation carriers were genotyped for the respective mutation. Relatives with mutation were then evaluated by echocardiography and magnetic resonance imaging. A detailed family history regarding adverse clinical events was recorded. RESULTS: In 16 HCM (18.4%) and two DCM (2.8%) index patients a mutation was detected. Seven mutations were novel. Mutation carriers exhibited no additional mutations in genes MYH7, TNNT2, TNNI3, ACTC and TPM1. Including relatives of twelve families, a total number of 42 mutation carriers was identified of which eleven (26.2%) had at least one adverse event. Considering the twelve families and six single patients with mutations, 45 individuals with cardiomyopathy and nine with borderline phenotype were identified. Among the 45 patients, 23 (51.1%) suffered from an adverse event. In eleven patients of seven families an unexplained sudden death was reported at the age between 13 and 67 years. Stroke or a transient ischemic attack occurred in six patients of five families. At least one adverse event occurred in eleven of twelve families. CONCLUSION:
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Authors | Philipp Ehlermann, Dieter Weichenhan, Jörg Zehelein, Henning Steen, Regina Pribe, Raphael Zeller, Stephanie Lehrke, Christian Zugck, Boris T Ivandic, Hugo A Katus |
Journal | BMC medical genetics
(BMC Med Genet)
Vol. 9
Pg. 95
(Oct 28 2008)
ISSN: 1471-2350 [Electronic] England |
PMID | 18957093
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Carrier Proteins
- myosin-binding protein C
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Topics |
- Adult
- Aged
- Aged, 80 and over
- Cardiomyopathy, Dilated
(diagnosis, genetics)
- Cardiomyopathy, Hypertrophic, Familial
(diagnosis, genetics)
- Carrier Proteins
(genetics)
- Echocardiography
- Female
- Humans
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mutation
- Pedigree
- Prognosis
- Risk Factors
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