A devastating complication of type 1 neurofibromatosis.

Department of Critical Care, Memorial Hospital West, Pembroke Pines, Florida, USA.
American Journal of Respiratory and Critical Care Medicine (Impact Factor: 13). 05/2012; 185(9):e12-3. DOI: 10.1164/rccm.201109-1587IM
Source: PubMed
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    ABSTRACT: Intrinsic lesions of arterial walls are an important manifestation of neurofibromatosis 1 (NF1). Neurofibromin is expressed in blood vessel endothelial and smooth muscle cells, and NF1 vasculopathy may result from an alteration of neurofibromin function in these cells. Elucidation of the role of neurofibromin in the maintenance and repair of blood vessels may lead to novel approaches to the treatment of NF1 vasculopathy and vascular disease in general.
    Clinical Genetics 12/2000; 58(5):341-4. DOI:10.1034/j.1399-0004.2000.580501.x · 3.93 Impact Factor
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    ABSTRACT: Patients with neurofibromatosis 1 (NF1) are at increased risk for a variety of cardiovascular disorders, but the natural history and pathogenesis of these abnormalities are poorly understood. The National Neurofibromatosis Foundation convened an expert task force to review current knowledge about cardiovascular manifestations of NF1 and to make recommendations regarding clinical management and research priorities related to these features of the disease. This report summarizes the NF1 Cardiovascular Task Force's current understanding of vasculopathy, hypertension, and congenital heart defects that occur in association with NF1. Recommendations are made regarding routine surveillance for cardiovascular disease and diagnostic evaluation and management of cardiovascular disorders in individuals with NF1. Our understanding of the natural history and pathogenesis of cardiovascular disease in NF1 has improved substantially in the past few years, but many clinically important questions remain unanswered.
    Genetics in Medicine 06/2002; 4(3):105-11. DOI:10.1097/00125817-200205000-00002 · 7.33 Impact Factor
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    ABSTRACT: Neurofibromatosis type I (NF-I) is an autosomal dominant disorder affecting one in 3000 individuals. Vascular abnormalities are a well-recognized manifestation of NF-I. The purpose of this study is to review the spectrum, management, and clinical outcome of patients with vascular abnormalities and NF-I. We retrospectively reviewed 31 patients (15 males, 16 females) with clinical NF-I and vascular abnormalities identified from imaging or operative findings between 1976 and 2005. The diagnosis of NF-I was made at a mean age of 11 +/- 10 years with vascular lesions identified at a mean age of 38 +/- 16 years. There were 76 vascular abnormalities, including 38 aneurysms, 20 arterial stenoses, 5 arteriovenous malformations (AVM), 5 arteries compressed or invaded by neural tumors, and 6 abnormalities of the heart valves. Arterial lesions were located in the aorta (n = 17) and in the renal (n = 12), mesenteric (n = 12), carotid-vertebral (n = 10), intracerebral (n = 4), and subclavian-axillary and iliofemoral arteries (3 each). Interventions were required in 23 patients (74%); 15 underwent 24 arterial reconstructions, including 9 renal, 8 aortic, 4 mesenteric, 2 carotid, and 1 femoral. The other eight patients had excision of AVM in three, vessel ligation in two, and clipping of cerebral aneurysms, coil embolization of hepatic aneurysms, and left thoracotomy in one patient each. One patient died of ruptured abdominal aortic aneurysm. Six patients (26%) had postoperative complications, including pneumonia in two, and stroke, acalculous cholecystitis, brachial plexopathy and chylothorax in one patient each. The median follow up was 4.1 years (range, 6 months to 20 years). Late vascular problems developed in three patients, including graft stenoses in two and rupture of another aortic aneurysm in one. Freedom from graft-related complications was 83% at 10 years. Patient survival at 10 years was 77%, less than the 86% expected survival for the general population (P < .001). Patients with NF-I have a wide spectrum of vascular abnormalities, most notably aneurysms or stenoses of the aortic, renal, and mesenteric circulation. Operative treatment of symptomatic patients with vascular lesions or large aneurysms is safe, effective, and durable.
    Journal of Vascular Surgery 09/2007; 46(3):475-484. DOI:10.1016/j.jvs.2007.03.055 · 3.02 Impact Factor