NF1 Complicated by Atypical Coarctation of the Thoracic Aort
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Introduction
Neurofibromatosis type 1 is a dominantly inherited multisystem genetic disorder with a prevalence of approximately 1 in 3,000 at birth. The disease phenotype is variable, with typical characteristics including café-au-lait spots on the skin, axillary and inguinal freckling, multiple neurofibroma, iris hamartoma, and learning disability. NF1 vasculopathy is a potentially serious but less well-known manifestation of this multisystem genetic disorder, which can produce renal artery stenosis, coarctation of the aorta, and other vascular lesions. The incidence of hypertension in patients with NF1 is around 1% and is associated most commonly with renal artery stenosis in children and pheochromocytoma in adults. To date, only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been promoted. Here we report the case of a 4-year-old girl with hypertension and atypical thoracic coarctation who underwent graft interposition.

Case Report
A 4-year-old girl was referred to our hospital with hypertension and suspected aortic coarctation. She was a full-term normal delivery without any antenatal or postnatal complications and a birth weight of 2.5?kg. At 5 months of age, heart murmur due to a small ventricular septal defect was diagnosed at a referred hospital. At the age of four, a regular medical examination revealed elevated arterial blood pressure of 140/90?mmHg at the upper arm and weak femoral arterial pulse. She had no complaint of headache and no history of any type of seizure. In addition, her family history was not suggestive of neurofibromatosis.....

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603612/
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