U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypoplastic right heart syndrome

MedGen UID:
83376
Concept ID:
C0344963
Disease or Syndrome
Synonyms: Hypoplastic Right Heart Syndrome; hypoplastic right heart syndrome; Pseudotruncus arteriosus; Right hypoplastic heart syndrome; right hypoplastic heart syndrome
SNOMED CT: Right hypoplastic heart syndrome (268180007); Pseudotruncus arteriosus (268180007)
 
Monarch Initiative: MONDO:0020291
Orphanet: ORPHA98723

Definition

A rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type (see this term). Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hypoplastic right heart syndrome

Professional guidelines

PubMed

Ulkumen BA, Pala HG, Baytur YB, Koyuncu FM
Clin Exp Obstet Gynecol 2015;42(3):355-7. PMID: 26152010

Recent clinical studies

Etiology

Wang E, Nie Y, Fan X, Zheng Z, Gu H, Zhang H, Hu S
J Genet 2019 Jun;98(2) PMID: 31204705
Giannakou A, Sicko RJ, Kay DM, Zhang W, Romitti PA, Caggana M, Shaw GM, Jelliffe-Pawlowski LL, Mills JL
Am J Med Genet A 2018 Dec;176(12):2760-2767. Epub 2018 Oct 5 doi: 10.1002/ajmg.a.40527. PMID: 30289599
Man T, He Y, Zhao Y, Sun L, Liu X, Ge S
Echocardiography 2017 Dec;34(12):1867-1871. doi: 10.1111/echo.13572. PMID: 29287136
Gellis L, Tworetzky W
Semin Fetal Neonatal Med 2017 Dec;22(6):399-403. Epub 2017 Sep 1 doi: 10.1016/j.siny.2017.08.006. PMID: 28867155
Mohan JC, Mohan V, Shukla M, Sethi A
Indian Heart J 2016 Sep;68 Suppl 2(Suppl 2):S229-S232. Epub 2016 Apr 15 doi: 10.1016/j.ihj.2016.03.030. PMID: 27751299Free PMC Article

Diagnosis

Wang E, Nie Y, Fan X, Zheng Z, Gu H, Zhang H, Hu S
J Genet 2019 Jun;98(2) PMID: 31204705
Giannakou A, Sicko RJ, Kay DM, Zhang W, Romitti PA, Caggana M, Shaw GM, Jelliffe-Pawlowski LL, Mills JL
Am J Med Genet A 2018 Dec;176(12):2760-2767. Epub 2018 Oct 5 doi: 10.1002/ajmg.a.40527. PMID: 30289599
Mohan JC, Mohan V, Shukla M, Sethi A
Indian Heart J 2016 Sep;68 Suppl 2(Suppl 2):S229-S232. Epub 2016 Apr 15 doi: 10.1016/j.ihj.2016.03.030. PMID: 27751299Free PMC Article
Dib C, Araoz PA, Davies NP, Dearani JA, Ammash NM
Tex Heart Inst J 2012;39(2):249-54. PMID: 22740745Free PMC Article
Sahn DJ, Allen HD, Anderson R, Goldberg SJ
Chest 1978 Feb;73(2):227-30. doi: 10.1378/chest.73.2.227. PMID: 620589

Therapy

Noben L, Lempersz C, van den Heuvel ER, Zhan Z, Vandenbussche FPHA, Coumans ABC, Haak MC, Vullings R, Oei SG, Clur SAB, van Laar JOEH
PLoS One 2022;17(10):e0275802. Epub 2022 Oct 20 doi: 10.1371/journal.pone.0275802. PMID: 36264863Free PMC Article
Stone ML, Schäfer M, DiMaria MV, von Alvensleben JC, Campbell DN, Jaggers J, Mitchell MB
J Thorac Cardiovasc Surg 2022 Mar;163(3):1195-1207. Epub 2021 Jul 17 doi: 10.1016/j.jtcvs.2021.06.064. PMID: 34429192
Ulkumen BA, Pala HG, Baytur YB, Koyuncu FM
Clin Exp Obstet Gynecol 2015;42(3):355-7. PMID: 26152010
Laohaprasitipron D, Nana A, Sriyoschati S, Sriyaphai W, Hongvisitgul C
J Med Assoc Thai 1996 May;79(5):320-4. PMID: 8708524
Jureidini S, Chase NA, Alpert BS, Vanderzalm T, Sheneflet RE
Pediatr Cardiol 1986;7(3):157-60. doi: 10.1007/BF02424990. PMID: 3543871

Prognosis

Stone ML, Schäfer M, DiMaria MV, von Alvensleben JC, Campbell DN, Jaggers J, Mitchell MB
J Thorac Cardiovasc Surg 2022 Mar;163(3):1195-1207. Epub 2021 Jul 17 doi: 10.1016/j.jtcvs.2021.06.064. PMID: 34429192
Schidlow DN, Freud L, Friedman K, Tworetzky W
Echocardiography 2017 Dec;34(12):1834-1841. doi: 10.1111/echo.13667. PMID: 29287139
Man T, He Y, Zhao Y, Sun L, Liu X, Ge S
Echocardiography 2017 Dec;34(12):1867-1871. doi: 10.1111/echo.13572. PMID: 29287136
Mohan JC, Mohan V, Shukla M, Sethi A
Indian Heart J 2016 Sep;68 Suppl 2(Suppl 2):S229-S232. Epub 2016 Apr 15 doi: 10.1016/j.ihj.2016.03.030. PMID: 27751299Free PMC Article
Ulkumen BA, Pala HG, Baytur YB, Koyuncu FM
Clin Exp Obstet Gynecol 2015;42(3):355-7. PMID: 26152010

Clinical prediction guides

Mamasoula C, Bigirumurame T, Chadwick T, Addor MC, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Khoshnood B, Klungsoyr K, Randall K, Stoianova S, Haeusler M, Nelen V, Neville AJ, Perthus I, Pierini A, Bertaut-Nativel B, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Barisic I, de Walle HEK, Lanzoni M, Sayers G, Mullaney C, Pennington L, Rankin J
Birth Defects Res 2023 Apr 1;115(6):583-594. Epub 2023 Feb 3 doi: 10.1002/bdr2.2152. PMID: 36734416
Stone ML, Schäfer M, DiMaria MV, von Alvensleben JC, Campbell DN, Jaggers J, Mitchell MB
J Thorac Cardiovasc Surg 2022 Mar;163(3):1195-1207. Epub 2021 Jul 17 doi: 10.1016/j.jtcvs.2021.06.064. PMID: 34429192
Man T, He Y, Zhao Y, Sun L, Liu X, Ge S
Echocardiography 2017 Dec;34(12):1867-1871. doi: 10.1111/echo.13572. PMID: 29287136
Sharma J, Friedman D, Schiller M, Flynn P, Alonso ML
Int J Cardiol 1997 Dec 19;62(3):199-202. doi: 10.1016/s0167-5273(97)00255-6. PMID: 9476678
Sahn DJ, Allen HD, Anderson R, Goldberg SJ
Chest 1978 Feb;73(2):227-30. doi: 10.1378/chest.73.2.227. PMID: 620589

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...