Clinical and Molecular Aspects of Naxos Disease
| Autor: | Alexandros Protonotarios, Zafeirenia Xylouri, Angeliki Asimaki, Ioannis Protonotarios, Adalena Tsatsopoulou |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pathology
medicine.medical_specialty Myocarditis business.industry Cardiomyopathy Plakoglobin Context (language use) General Medicine medicine.disease Penetrance Naxos disease Palmoplantar keratoderma Keratoderma Palmoplantar Heart failure medicine Humans Cardiology and Cardiovascular Medicine business Cardiomyopathies Hair Diseases Arrhythmogenic Right Ventricular Dysplasia |
| Zdroj: | Heart failure clinics. 18(1) |
| ISSN: | 1551-7136 |
| Popis: | Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair. The causative mutation identified in plakoglobin protein gene indicated a potential role of the desmosomal protein complex as culprit for cardiomyopathy. In the context of a family, the early evident cutaneous features may serve as a clinical screening tool to spot arrhythmogenic cardiomyopathy in subclinical stage. "Myocarditis-like episodes" may step up the disease evolution or mark a transition from concealed to symptomatic cardiomyopathy phase. Arrhythmogenic cardiomyopathy in Naxos disease shows increased penetrance and phenotypic expression but its arrhythmic risk is analogous to dominant forms. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|