ArticleCase reports in pediatrics2013
Neurofibromatosis type 1 complicated by atypical coarctation of the thoracic aorta.
Article in Case reports in pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 11 citations in OpenAlex.
- Clinical guidelines for the diagnosis, evaluation, and management of hypertension for Korean children and adolescents: the Korean Working Group of Pediatric Hypertension.Kidney research and clinical practice · 2025Article
- Spontaneous avulsion of the inferior mesenteric artery in a neurofibromatosis type 1 patient: a case-based review.Archives of medical sciences. Atherosclerotic diseases · 2025Article
- Syndromes with aortic involvement: pictorial review.Cardiovascular diagnosis and therapy · 2018Review
- Neurofibromatosis type 1-associated hypertension secondary to coarctation of the thoracic aorta.Clinical kidney journal · 2014Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 café-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 the Th5-to-Th6 level was made following catheterization with a pressure gradient of 40 mmHg. 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.
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Registered trials
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