Cardiac characterization of 16 patients with largeNF1gene deletions
| Autor: | Jan M. Friedman, G. Mueller, Hildegard Kehrer-Sawatzki, Rosa Nguyen, Lan Kluwe, Kimberly Jett, M. Kentsch, V-F Mautner, T. S. Mir |
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| Rok vydání: | 2012 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Candidate gene business.industry Diastole Hypertrophic cardiomyopathy medicine.disease Intracardiac injection nervous system diseases Stenosis Internal medicine Genetics medicine Cardiology Clinical significance Young adult Neurofibromatosis business neoplasms Genetics (clinical) |
| Zdroj: | Clinical Genetics. 84:344-349 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/cge.12072 |
| Popis: | The aim of this study was to characterize cardiac features of patients with neurofibromatosis 1 (NF1) and large deletions of the NF1 gene region. The study participants were 16 patients with large NF1 deletions and 16 age- and sex-matched NF1 patients without such deletions. All the patients were comprehensively characterized clinically and by echocardiography. Six of 16 NF1 deletion patients but none of 16 non-deletion NF1 patients have major cardiac abnormalities (p = 0.041). Congenital heart defects (CHDs) include mitral insufficiency in two patients and ventricular septal defect, aortic stenosis, and aortic insufficiency in one patient each. Three deletion patients have hypertrophic cardiomyopathy. Two patients have intracardiac tumors. NF1 patients without large deletions have increased left ventricular (LV) diastolic posterior wall thickness (p |
| Databáze: | OpenAIRE |
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