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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

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
Bleiweis MS, Philip J, Peek GJ, Fudge JC, Sullivan KJ, Co-Vu J, Gupta D, Shih R, Pietra BBA, Fricker FJ, Vyas HV, Hernandez-Rivera JF, Powers ER, Nixon CS, Falasa M, Jacobs JP
Ann Thorac Surg 2022 Oct;114(4):1412-1418. Epub 2022 Mar 15 doi: 10.1016/j.athoracsur.2022.02.051. PMID: 35304109
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
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
Lamberti JJ, Spicer RL, Waldman JD, Grehl TM, Thomson D, George L, Kirkpatrick SE, Mathewson JW
J Thorac Cardiovasc Surg 1990 Jul;100(1):22-9; discussion 29-30. PMID: 1694938

Diagnosis

Başar EZ, Dogan Y, Kayabey Ö, Babaoğlu K
Congenit Anom (Kyoto) 2023 May;63(3):66-73. Epub 2023 Jan 31 doi: 10.1111/cga.12508. PMID: 36680738
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
Ulkumen BA, Pala HG, Baytur YB, Koyuncu FM
Clin Exp Obstet Gynecol 2015;42(3):355-7. PMID: 26152010
Lamberti JJ, Spicer RL, Waldman JD, Grehl TM, Thomson D, George L, Kirkpatrick SE, Mathewson JW
J Thorac Cardiovasc Surg 1990 Jul;100(1):22-9; discussion 29-30. PMID: 1694938

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
Jureidini S, Chase NA, Alpert BS, Vanderzalm T, Sheneflet RE
Pediatr Cardiol 1986;7(3):157-60. doi: 10.1007/BF02424990. PMID: 3543871
Synhorst D, Matlak M, Roan Y, Johnson D, Byrne J, McGough E
Am J Cardiol 1979 Mar;43(3):662-5. doi: 10.1016/0002-9149(79)90029-8. PMID: 420116

Prognosis

Başar EZ, Dogan Y, Kayabey Ö, Babaoğlu K
Congenit Anom (Kyoto) 2023 May;63(3):66-73. Epub 2023 Jan 31 doi: 10.1111/cga.12508. PMID: 36680738
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
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
Lam YY, Keung W, Chan CH, Geng L, Wong N, Brenière-Letuffe D, Li RA, Cheung YF
J Am Heart Assoc 2020 Oct 20;9(20):e016528. Epub 2020 Oct 16 doi: 10.1161/JAHA.120.016528. PMID: 33059525Free PMC Article
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
Essed CE, Klein HW, Krediet P, Vorst EJ
Virchows Arch A Pathol Anat Histol 1975 Oct 20;368(2):87-97. doi: 10.1007/BF00432410. PMID: 810950

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