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- Title
Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta.
- Authors
Masato Kimura; Shuhei Kakizaki; Kengo Kawano; Shinichi Sato; Shigeo Kure
- Abstract
Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are caf'e-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly with renal artery stenosis in children. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been reported. Here we describe the case of a 4-year-old girl who presented with NF1 and hypertension due to atypical coarctation of the thoracic aorta. The diagnosis of coarctation of the thoracic aorta at theTh5-to-Th6 level was made following catheterization with a pressure gradient of 40mmHg. The patient underwent surgery comprising resection of the coarctation of the thoracic aorta and graft interposition. On the basis of our findings, annual assessment of blood pressure is advised for patients with NF1.
- Subjects
NEUROFIBROMATOSIS; DISEASE complications; AORTIC coarctation; THORACIC aorta; GENETIC disorders; BLOOD pressure; ARTERIAL stenosis; DISEASES
- Publication
Case Reports in Pediatrics, 2013, p1
- ISSN
2090-6803
- Publication type
Article
- DOI
10.1155/2013/458543