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      The Efficacy of a Genetic Analysis of the BMPR2 Gene in a Patient with Severe Pulmonary Arterial Hypertension and an Atrial Septal Defect Treated with Bilateral Lung Transplantation

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          Abstract

          Severe pulmonary arterial hypertension (PAH) rarely develops in children with an atrial septal defect (ASD), even those with a large defect. We herein report the case of a 27-year-old man with a moderate-sized secundum ASD and right ventricular failure due to severe PAH, which developed in his early teens. He was diagnosed as having a genetic mutation of the bone morphogenetic protein receptor-2 ( BMPR2) gene and was successfully treated with bilateral lung transplantation with ASD path closure. In patients with congenital heart disease, a genetic analysis may provide information about the lifetime risk of developing PAH.

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          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.
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            Pulmonary vascular disease in adults with congenital heart disease.

            Gerhard-Paul Diller, Michael A Gatzoulis (2007)
            Pulmonary arterial hypertension of variable degree is commonly associated with adult congenital heart disease. Depending on size and location of the underlying cardiac defect as well as on repair status, pulmonary arterial hypertension may present with or without reversed shunting and associated cyanosis (ie, Eisenmenger syndrome). We review available data on etiology, clinical presentation, prognosis, and management strategies of pulmonary arterial hypertension in adult patients with congenital heart disease. In addition, we discuss the numerous complications associated with Eisenmenger syndrome, representing a multisystem disorder. Finally, we present general management strategies and emerging disease-targeting therapies.
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              Mechanisms of Lipid Accumulation in the Bone Morphogenetic Protein Receptor Type 2 Mutant Right Ventricle.

              Megha Talati, Evan L Brittain, Joshua Fessel … (2016)
              In heritable pulmonary arterial hypertension with germline mutation in the bone morphogenetic protein receptor type 2 (BMPR2) gene, right ventricle (RV) dysfunction is associated with RV lipotoxicity; however, the underlying mechanism for lipid accumulation is not known.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Intern Med
                Journal ID (iso-abbrev): Intern. Med
                Title: Internal Medicine
                Publisher: The Japanese Society of Internal Medicine
                ISSN (Print): 0918-2918
                ISSN (Electronic): 1349-7235
                Publication date (Electronic): 11 October 2017
                Publication date (Print): 1 December 2017
                Volume: 56
                Issue: 23
                Pages: 3193-3197
                Affiliations
                [1 ]Department of Cardiovascular Medicine, Tohoku University Graduate School of Medicine, Japan
                [2 ]Department of Cardiovascular Surgery, Tohoku University Graduate School of Medicine, Japan
                [3 ]Department of Pathology, Tohoku University School of Medicine, Japan
                [4 ]Division of Pulmonary Circulation, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Japan
                [5 ]Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Japan
                [6 ]Department of Medical Genetics, Sakakibara Heart Institute, Japan
                [7 ]Department of Pediatrics, Iwate Medical University, Japan
                [8 ]Department of Thoracic Surgery, Institute of Development, Aging and Cancer, Tohoku University, Japan
                Author notes

                Correspondence to Dr.　Shunsuke Tatabe, shuntatebe@ 123456cardio.med.tohoku.ac.jp

                Article
                DOI: 10.2169/internalmedicine.8686-16
                PMC ID: 5742392
                PubMed ID: 29021450
                SO-VID: 4aabe865-7eb9-4286-afa2-ae0b32488a67
                Copyright © Copyright © 2017 by The Japanese Society of Internal Medicine
                License:

                The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit ( https://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 9 December 2016
                Date accepted : 12 April 2017
                Categories
                Subject: Case Report

                Keywords: bmpr2 mutation,pulmonary arterial hypertension,atrial septal defect,eisenmenger syndrome,lung transplantation,congenital heart disease
                Data availability:
                Keywords: bmpr2 mutation, pulmonary arterial hypertension, atrial septal defect, eisenmenger syndrome, lung transplantation, congenital heart disease

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