For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
18
views
20
references
 Top references
cited by
5
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      210
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Left main coronary artery compression by a dilated main pulmonary artery and left coronary sinus of Valsalva aneurysm in a patient with heritable pulmonary arterial hypertension and FLNA mutation

      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

          Left main coronary artery (LMCA) disease due to external compression by a dilated main pulmonary artery (MPA) is an uncommon clinical entity. Here, we describe a 52-year-old woman with pulmonary arterial hypertension (PAH) and anteroseptal old myocardial infarction (OMI). The cause of the OMI was external compression of the LMCA by the dilated MPA and aneurysm of the left coronary sinus of Valsalva. The patient’s sister (aged 56 years) had also been diagnosed with PAH and both women had a novel heterozygous splicing mutation, IVS2-2A > G (c.374-2A > G in NM_001456), in the filamin A ( FLNA) gene. To our knowledge, this is the first report of HPAH which is likely to be due to FLNA mutation and compression of the LMCA between a dilated MPA and aneurysm of the left coronary sinus of Valsalva.

          Related collections

          Most cited references20

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

          ACCF/AHA 2009 expert consensus document on pulmonary hypertension a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association developed in collaboration with the American College of Chest Physicians; American Thoracic Society, Inc.; and the Pulmonary Hypertension Association.

          Vallerie V McLaughlin, Stephen Archer, David B. Badesch … (2009)
          Article 0 comments Cited 321 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

            J W Fox, E D Lamperti, Y Z Ekşioğlu … (1998)
            Long-range, directed migration is particularly dramatic in the cerebral cortex, where postmitotic neurons generated deep in the brain migrate to form layers with distinct form and function. In the X-linked dominant human disorder periventricular heterotopia (PH), many neurons fail to migrate and persist as nodules lining the ventricular surface. Females with PH present with epilepsy and other signs, including patent ductus arteriosus and coagulopathy, while hemizygous males die embryonically. We have identified the PH gene as filamin 1 (FLN1), which encodes an actin-cross-linking phosphoprotein that transduces ligand-receptor binding into actin reorganization, and which is required for locomotion of many cell types. FLN1 shows previously unrecognized, high-level expression in the developing cortex, is required for neuronal migration to the cortex, and is essential for embryogenesis.
            Article 0 comments Cited 134 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Genetics and genomics of pulmonary arterial hypertension.

              Florent Soubrier, Wendy Chung, Rajiv Machado … (2013)
              Major discoveries have been obtained within the last decade in the field of hereditary predisposition to pulmonary arterial hypertension (PAH). Among them, the identification of bone morphogenetic protein receptor type 2 (BMPR2) as the major predisposing gene and activin A receptor type II-like kinase-1 (ACVRL1, also known as ALK1) as the major gene when PAH is associated with hereditary hemorrhagic telangiectasia. The mutation detection rate for the known genes is approximately 75% in familial PAH, but the mutation shortfall remains unexplained even after careful molecular investigation of these genes. To identify additional genetic variants predisposing to PAH, investigators harnessed the power of next-generation sequencing to successfully identify additional genes that will be described in this report. Furthermore, common genetic predisposing factors for PAH can be identified by genome-wide association studies and are detailed in this paper. The careful study of families and routine genetic diagnosis facilitated natural history studies based on large registries of PAH patients to be set up in different countries. These longitudinal or cross-sectional studies permitted the clinical characterization of PAH in mutation carriers to be accurately described. The availability of molecular genetic diagnosis has opened up a new field for patient care, including genetic counseling for a severe disease, taking into account that the major predisposing gene has a highly variable penetrance between families. Molecular information can be drawn from the genomic study of affected tissues in PAH, in particular, pulmonary vascular tissues and cells, to gain insight into the mechanisms leading to the development of the disease. High-throughput genomic techniques, on the basis of next-generation sequencing, now allow the accurate quantification and analysis of ribonucleic acid, species, including micro-ribonucleic acids, and allow for a genome-wide investigation of epigenetic or regulatory mechanisms, which include deoxyribonucleic acid methylation, histone methylation, and acetylation, or transcription factor binding. Copyright © 2013 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
              Article 0 comments Cited 106 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Pulm Circ
                Journal ID (iso-abbrev): Pulm Circ
                Journal ID (publisher-id): PUL
                Journal ID (hwp): sppul
                Title: Pulmonary Circulation
                Publisher: SAGE Publications (Sage UK: London, England )
                ISSN (Print): 2045-8932
                ISSN (Electronic): 2045-8940
                Publication date (Electronic): 29 June 2017
                Publication date Collection: September 2017
                Volume: 7
                Issue: 3
                Pages: 734-740
                Affiliations
                [1 ]Department of Cardiology, National Center for Geriatrics and Gerontology, Obu, Japan
                [2 ]Department of Cardiology, Nagoya University Graduate School of Medicine, Aichi, Japan
                [3 ]Department of Advanced Medicine in Cardiopulmonary Disease, Nagoya University Graduate School of Medicine, Aichi, Japan
                [4 ]Department of Advanced Medical Research for Pulmonary Hypertension, Division of Pulmonary Circulation, National Cerebral and Cardiovascular Center, Osaka, Japan
                [5 ]Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan
                [6 ]Department of Clinical Engineering, Tokyo University of Technology School of Health Sciences, Tokyo, Japan
                [7 ]Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan
                Author notes
                [*]Akihiro Hirashiki, Department of Cardiology, National Center for Geriatrics and Gerontology 7-430, Morioka-cho, Obu, Aichi, 474-8511, Japan. Email: hirasiki@ 123456ncgg.go.jp
                Article
                Publisher ID: 10.1177_2045893217716107
                DOI: 10.1177/2045893217716107
                PMC ID: 5841897
                PubMed ID: 28660794
                SO-VID: f313f95d-d478-4598-9d81-bbb149e0231a
                Copyright © © The Author(s) 2017
                License:

                This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License ( http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages ( https://us.sagepub.com/en-us/nam/open-access-at-sage).

                History
                Date received : 11 January 2017
                Date accepted : 27 May 2017
                Categories
                Subject: Case Reports
                Custom metadata
                cover-date July-September 2017

                ScienceOpen disciplines: Respiratory medicine
                Keywords: aneurysm of the left coronary sinus of valsalva,heritable pulmonary arterial hypertension,myocardial infarction
                Data availability:
                ScienceOpen disciplines: Respiratory medicine
                Keywords: aneurysm of the left coronary sinus of valsalva, heritable pulmonary arterial hypertension, myocardial infarction

                Comments

                Comment on this article

                scite_

                Similar content210

                See all similar

                Cited by5

                See all cited by

                Most referenced authors490

                See all reference authors