单词 |
arrhythmogenic right ventricular dysplasia type 5 |
释义 |
arrhythmogenic right ventricular dysplasia type 5 arrhythmogenic right ventricular dysplasia type 5 An autosomal dominant disorder (OMIM:604400) characterised by fibrofatty degeneration of the right ventricular myocardium (especially the free wall), electrical lability and sudden death. It is clinically defined by EKG/ECG and angiographic criteria. Molecular pathology Defects of TMEM43, which encodes a protein thought to play a key role in maintaining nuclear envelope structure, cause arrhythmogenic right ventricular dysplasia type 5. |
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