Neurofibromatosis type 1-associated hypertension secondary to coarctation of the thoracic aorta

Abstract

Neurofibromatosis type 1 (NF-1), also known as von Recklinghausen's disease, is an autosomal dominant genetic disorder. NF-I vasculopathy has been used to describe various vascular malformations associated with NF-1. Secondary hypertension related to NF-1 vasculopathy has been reported because of renal artery stenosis, coarctation of the abdominal aorta and other vascular lesions; however, coarctation of the thoracic aorta has seldom been reported. We report the first case, to our knowledge, of isolated coarctation of thoracic aorta in a pregnant female with NF-1. Healthcare providers caring for patients with NF-1 should be aware of associated vascular complications.

Syndromes with aortic involvement: pictorial review

“…NF1, or von Recklinghausen disease, occurs with greater frequency and is characterized by mutations in the NF1 gene found on chromosome 17q11.2. The overall prevalence is 1 in 3,000-4,000 (1,29). The diagnosis is based on a set of criteria established by the National Institutes of Health (NIH) consisting of characteristic clinical findings such as café-aulait spots, iris hamartomas (Lisch nodules), optic glioma, axillary freckling, dermal neurofibromas, or a distinctive skeletal abnormality (e.g., sphenoid wind dysplasia) and a first-degree relative with NF1.…”

“…The diagnosis is based on a set of criteria established by the National Institutes of Health (NIH) consisting of characteristic clinical findings such as café-aulait spots, iris hamartomas (Lisch nodules), optic glioma, axillary freckling, dermal neurofibromas, or a distinctive skeletal abnormality (e.g., sphenoid wind dysplasia) and a first-degree relative with NF1. Two or more of these features (in specified numbers) establish the diagnosis (29,30).…”

“…The NF1 gene codes for a tumor-suppressor protein known as neurofibromin that is expressed on tissues throughout multiple organ systems, including blood vessels. Mutations in neurofibromin lead to abnormal endothelial and smooth muscle development, in turn altering normal vessel structural maintenance processes and causing intimal thickening and disarray (29,31). Renal artery stenosis is the most common vascular abnormality in NF1, followed by abdominal coarctation/midaortic syndrome (Figure 7) (2,29-31).…”

“…Although patients with NF1 are prone to vascular abnormalities, the frequency of such findings remains low; thus, routine screening for vasculopathy in NF1 patients is not currently recommended. However, an imaging evaluation of the head, chest, and abdomen, should be prompted if an NF1 patient has hypertension (29). A variety of modalities, including initially echocardiography followed by CT or MRI can be used for these purposes (30,31).…”

“…A variety of modalities, including initially echocardiography followed by CT or MRI can be used for these purposes (30,31). Surgical or endovascular techniques can be used for treatment, depending on the lesion (29)(30)(31).…”