دورية أكاديمية

Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.

التفاصيل البيبلوغرافية
العنوان: Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.
المؤلفون: Ruggieri, Martino, D'Arrigo, Giuseppe, Abbate, Mauro, Distefano, Angela, Upadhyaya, Meena, Ruggieri, M, D'Arrigo, G, Abbate, M, Distefano, A, Upadhyaya, M
المصدر: European Journal of Pediatrics; 2000, Vol. 159 Issue 7, p477-480, 4p
مصطلحات موضوعية: NEUROFIBROMATOSIS, CORONARY arteries, ANEURYSMS, RENAL artery, CEREBRAL arteries
مستخلص: Unlabelled: A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction.Conclusion: To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene. [ABSTRACT FROM AUTHOR]
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قاعدة البيانات: Complementary Index
الوصف
تدمد:03406199
DOI:10.1007/s004310051313