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Autosomal dominant coarctation of aorta

MedGen UID:
443900
•Concept ID:
C2930803
•
Disease or Syndrome
Synonyms: Aorta Dominant Coarctation; Aorta Dominant Coarctations; Coarctation of Aorta Dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015445
Orphanet: ORPHA1455

Definition

A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant coarctation of aorta
Follow this link to review classifications for Autosomal dominant coarctation of aorta in Orphanet.

Recent clinical studies

Etiology

Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.
Gerboni S, Sabatino G, Mingarelli R, Dallapiccola B
J Med Genet 1993 Apr;30(4):328-9. doi: 10.1136/jmg.30.4.328. PMID: 8487284Free PMC Article

Diagnosis

Agenesis of the right internal carotid artery and Klippel-Feil syndrome: case report.
Braga M, Pederzoli M, Beretta S, Ferrarini M, Canovaro P, Arpaia G, Crespi V
Spine (Phila Pa 1976) 2009 Sep 15;34(20):E740-2. doi: 10.1097/BRS.0b013e3181b41181. PMID: 19752694
Familiar hypertrophic cardiomyopathy in association with coarctation of the aorta and coronary artery disease. Importance of family screening. A brief report.
Hountis P, Argyriou M, Hatziveis K, Roumpeas C, Antonopoulos N
Minerva Cardioangiol 2007 Aug;55(4):517-9. PMID: 17653030
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.
Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW
Am J Hum Genet 2002 Sep;71(3):663-8. Epub 2002 Jul 29 doi: 10.1086/342360. PMID: 12148092Free PMC Article
Abdominal coarctation and Alagille syndrome.
Quek SC, Tan L, Quek ST, Yip W, Aw M, Quak SH
Pediatrics 2000 Jul;106(1):E9. doi: 10.1542/peds.106.1.e9. PMID: 10878178
Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations.
Gerboni S, Sabatino G, Mingarelli R, Dallapiccola B
J Med Genet 1993 Apr;30(4):328-9. doi: 10.1136/jmg.30.4.328. PMID: 8487284Free PMC Article

Therapy

Agenesis of the right internal carotid artery and Klippel-Feil syndrome: case report.
Braga M, Pederzoli M, Beretta S, Ferrarini M, Canovaro P, Arpaia G, Crespi V
Spine (Phila Pa 1976) 2009 Sep 15;34(20):E740-2. doi: 10.1097/BRS.0b013e3181b41181. PMID: 19752694

Prognosis

PTPN11 mutations play a minor role in isolated congenital heart disease.
Weismann CG, Hager A, Kaemmerer H, Maslen CL, Morris CD, Schranz D, Kreuder J, Gelb BD
Am J Med Genet A 2005 Jul 15;136(2):146-51. doi: 10.1002/ajmg.a.30789. PMID: 15940693

Clinical prediction guides

Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases.
Moosmann J, Uebe S, Dittrich S, Rüffer A, Ekici AB, Toka O
PLoS One 2015;10(5):e0126873. Epub 2015 May 18 doi: 10.1371/journal.pone.0126873. PMID: 25984793Free PMC Article
PTPN11 mutations play a minor role in isolated congenital heart disease.
Weismann CG, Hager A, Kaemmerer H, Maslen CL, Morris CD, Schranz D, Kreuder J, Gelb BD
Am J Med Genet A 2005 Jul 15;136(2):146-51. doi: 10.1002/ajmg.a.30789. PMID: 15940693
Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome.
Leroy JG, Claus L, Lee B, Mortier GR
Pediatr Pathol Mol Med 2003 Jan-Feb;22(1):23-35. doi: 10.1080/pdp.22.1.23.35. PMID: 12687887
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H
Am J Med Genet 1988 Nov;31(3):565-89. doi: 10.1002/ajmg.1320310312. PMID: 3067577
Congenital heart malformations associated with disproportionate ventricular septal thickening.
Maron BJ, Edwards JE, Ferrans VJ, Clark CE, Lebowitz EA, Henry WL, Epstein SE
Circulation 1975 Nov;52(5):926-32. doi: 10.1161/01.cir.52.5.926. PMID: 1236779

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