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Isolated right ventricular hypoplasia

MedGen UID:
336377
•Concept ID:
C1848587
•
Congenital Abnormality; Disease or Syndrome
Synonyms: Hypoplasia of the right ventricle; Isolated hypoplasia of the right ventricle; Right ventricle hypoplasia; Right ventricular hypoplasia; Right Ventricular Hypoplasia, Isolated
SNOMED CT: Isolated right ventricular hypoplasia (718135001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0010179
OMIM®: 277200
Orphanet: ORPHA439

Definition

Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterised by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. [from SNOMEDCT_US]

Clinical features

From HPO
Hypoplasia of right ventricle
MedGen UID:
903846
•Concept ID:
C4082954
•
Anatomical Abnormality
Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.
See: Feature record | Search on this feature
Hypoplasia of right ventricle

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated right ventricular hypoplasia

Recent clinical studies

Etiology

Transcatheter closure of atrial septal defects in children with a hypoplastic right ventricle.
Atiq M, Lai L, Lee KJ, Benson LN
Catheter Cardiovasc Interv 2005 Jan;64(1):112-6. doi: 10.1002/ccd.20245. PMID: 15619280

Diagnosis

Isolated right ventricular hypoplasia caused by giant aneurysm of right coronary artery to left ventricle fistula in an adult: a case report.
Zhu F, Zheng Z, Yao L, Mou Y, Cheng Y, Gao H
J Cardiothorac Surg 2016 Jul 4;11(1):93. doi: 10.1186/s13019-016-0494-z. PMID: 27377631Free PMC Article
Magnetic resonance imaging findings of isolated right ventricular hypoplasia.
Kim H, Park EA, Lee W, Chung JW, Park JH, Kim GB, Kim WH
Int J Cardiovasc Imaging 2012 Dec;28 Suppl 2:149-52. Epub 2012 Nov 29 doi: 10.1007/s10554-012-0162-x. PMID: 23192444
Isolated hypoplasia of right ventricle with atrial septal defect: a rare form of cyanotic heart disease.
Joy MV, Venugopalan P, Sapru A, Subramanyan R
Indian Heart J 1999 Jul-Aug;51(4):440-3. PMID: 10547948
Isolated right ventricular hypoplasia.
Van der Hauwaert LG, Michaelsson M
Circulation 1971 Sep;44(3):466-74. doi: 10.1161/01.cir.44.3.466. PMID: 5097448
Isolated right ventricular hypoplasia.
Okin JT, Vogel JH, Pryor R, Blount SG Jr
Am J Cardiol 1969 Jul;24(1):135-40. doi: 10.1016/0002-9149(69)90060-5. PMID: 5794807

Prognosis

Magnetic resonance imaging findings of isolated right ventricular hypoplasia.
Kim H, Park EA, Lee W, Chung JW, Park JH, Kim GB, Kim WH
Int J Cardiovasc Imaging 2012 Dec;28 Suppl 2:149-52. Epub 2012 Nov 29 doi: 10.1007/s10554-012-0162-x. PMID: 23192444
Transcatheter closure of atrial septal defects in children with a hypoplastic right ventricle.
Atiq M, Lai L, Lee KJ, Benson LN
Catheter Cardiovasc Interv 2005 Jan;64(1):112-6. doi: 10.1002/ccd.20245. PMID: 15619280

Clinical prediction guides

Magnetic resonance imaging findings of isolated right ventricular hypoplasia.
Kim H, Park EA, Lee W, Chung JW, Park JH, Kim GB, Kim WH
Int J Cardiovasc Imaging 2012 Dec;28 Suppl 2:149-52. Epub 2012 Nov 29 doi: 10.1007/s10554-012-0162-x. PMID: 23192444
Transcatheter closure of atrial septal defects in children with a hypoplastic right ventricle.
Atiq M, Lai L, Lee KJ, Benson LN
Catheter Cardiovasc Interv 2005 Jan;64(1):112-6. doi: 10.1002/ccd.20245. PMID: 15619280
A case of right atrial thrombosis associated with isolated right ventricular hypoplasia.
Satokawa H, Iwaya F, Igari T, Hoshino S, Yamaguchi N, Maruyama Y
Fukushima J Med Sci 1990 Dec;36(2):91-5. PMID: 2131289

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