For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
35
views
32
references
 Top references
cited by
2
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      246
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1

      case-report

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Neurofibromatosis Type 1 ( NF1) is an autosomal dominant genetic disorder with an incidence of approximately 1 in 4,000 live births [1]. Pulmonary arterial hypertension (PAH) is a rare but extremely life-threatening complication associated with NF1. Timely recognition of this unusual and severe association between NF1 and PAH is imperative in prolonging the survival in this specific patient population. We present the clinical outcomes of a 47-year old female previously diagnosed with NF1, who presented with progressively worsening dyspnea.

          Related collections

          Most cited references32

          • Record: found
          • Abstract: found
          • Article: not found

          Clinical and genetic aspects of neurofibromatosis 1.

          Eric Friedman, G K Jett (2009)
          Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with neurofibromatosis 1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. The diagnosis of neurofibromatosis 1 is usually based on clinical findings. Neurofibromatosis 1, one of the most common Mendelian disorders, is caused by heterozygous mutations of the NF1 gene. Almost one half of all affected individuals have de novo mutations. Molecular genetic testing is available clinically but is infrequently needed for diagnosis. Disease management includes referral to specialists for treatment of complications involving the eye, central or peripheral nervous system, cardiovascular system, spine, or long bones. Surgery to remove both benign and malignant tumors or to correct skeletal manifestations is sometimes warranted. Annual physical examination by a physician familiar with the disorder is recommended. Other recommendations include ophthalmologic examinations annually in children and less frequently in adults, regular developmental assessment in children, regular blood pressure monitoring, and magnetic resonance imaging for follow-up of clinically suspected intracranial and other internal tumors.
          Article 0 comments Cited 130 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results.

            Peter Gloviczki, Gustavo S Oderich, Veronica Miller … (2007)
            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.
            Article 0 comments Cited 96 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: found
              Is Open Access

              Assessment of pulmonary artery pressure by echocardiography—A comprehensive review

              Sathish Parasuraman, Seamus Walker, Brodie Loudon … (2016)
              Pulmonary hypertension is a pathological haemodynamic condition defined as an increase in mean pulmonary arterial pressure ≥ 25 mmHg at rest, assessed using gold standard investigation by right heart catheterisation. Pulmonary hypertension could be a complication of cardiac or pulmonary disease, or a primary disorder of small pulmonary arteries. Elevated pulmonary pressure (PAP) is associated with increased mortality, irrespective of the aetiology. The gold standard for diagnosis is invasive right heart catheterisation, but this has its own inherent risks. In the past 30 years, immense technological improvements in echocardiography have increased its sensitivity for quantifying pulmonary artery pressure (PAP) and it is now recognised as a safe and readily available alternative to right heart catheterisation. In the future, scores combining various echo techniques can approach the gold standard in terms of sensitivity and accuracy, thereby reducing the need for repeated invasive assessments in these patients.
              Article 0 comments Cited 81 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Ateeq Mubarik
                Journal
                Journal ID (nlm-ta): Respir Med Case Rep
                Journal ID (iso-abbrev): Respir Med Case Rep
                Title: Respiratory Medicine Case Reports
                Publisher: Elsevier
                ISSN (Electronic): 2213-0071
                Publication date PMC-release: 01 April 2019
                Publication date Collection: 2019
                Publication date (Electronic): 01 April 2019
                Volume: 27
                Electronic Location Identifier: 100832
                Affiliations
                [1]Oak Hill Hospital Brooksville, FL, 34613, USA
                Author notes
                [∗ ]Corresponding author. Chief Resident Internal Medicine Oakhill Hospital, 11375 Cortez Blvd, Brooksville, FL, 34613, USA. ateeqmbrk@ 123456gmail.com
                Article
                Publisher ID: S2213-0071(19)30001-2 Publisher ID: 100832
                DOI: 10.1016/j.rmcr.2019.100832
                PMC ID: 6451192
                SO-VID: c3b39e02-6852-4586-98d6-7c5d95f0fc79
                Copyright © © 2019 The Authors
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 2 January 2019
                Date revision received : 27 March 2019
                Date accepted : 27 March 2019
                Categories
                Subject: Article

                Keywords: nf1,pah,ph
                Data availability:
                Keywords: nf1, pah, ph

                Comments

                Comment on this article

                scite_

                Similar content246

                See all similar

                Cited by2

                See all cited by

                Most referenced authors452

                See all reference authors