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Hypoplastic right heart

MedGen UID:
451017
Concept ID:
C0265856
Disease or Syndrome
Synonyms: Hypoplasia of right heart; Hypoplastic right heart syndrome; Underdeveloped right heart
SNOMED CT: Hypoplasia of right heart (39589002)
 
HPO: HP:0010954

Definition

Underdevelopment of the right-sided structures of the heart. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplastic right heart

Conditions with this feature

Pulmonary atresia with intact ventricular septum
MedGen UID:
87491
Concept ID:
C0344975
Congenital Abnormality
A rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. It presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.
Autosomal dominant Robinow syndrome 3
MedGen UID:
907878
Concept ID:
C4225164
Disease or Syndrome
Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.
Autosomal recessive cutis laxa type 2D
MedGen UID:
1376619
Concept ID:
C4479409
Disease or Syndrome
Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
MedGen UID:
1648412
Concept ID:
C4748348
Disease or Syndrome
MFRG is an autosomal recessive syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures (Shaheen et al., 2016).

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

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
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
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

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
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

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

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
Son SL, Hosek LL, Stein MC, Allshouse AA, Catino AB, Hoskoppal AK, Cox DA, Whitehead KJ, Lindsay IM, Esplin S, Metz TD
Am J Obstet Gynecol 2022 Jan;226(1):124.e1-124.e8. Epub 2021 Jul 28 doi: 10.1016/j.ajog.2021.07.015. PMID: 34331895Free PMC Article
Duran SR, Aggarwal S, Natarajan G
J Matern Fetal Neonatal Med 2018 Feb;31(4):500-505. Epub 2017 Apr 10 doi: 10.1080/14767058.2017.1289164. PMID: 28393581
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

Clinical prediction guides

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
Son SL, Hosek LL, Stein MC, Allshouse AA, Catino AB, Hoskoppal AK, Cox DA, Whitehead KJ, Lindsay IM, Esplin S, Metz TD
Am J Obstet Gynecol 2022 Jan;226(1):124.e1-124.e8. Epub 2021 Jul 28 doi: 10.1016/j.ajog.2021.07.015. PMID: 34331895Free PMC Article
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
Duran SR, Aggarwal S, Natarajan G
J Matern Fetal Neonatal Med 2018 Feb;31(4):500-505. Epub 2017 Apr 10 doi: 10.1080/14767058.2017.1289164. PMID: 28393581
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

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