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Congenital aortic valve insufficiency

MedGen UID:
510599
•Concept ID:
C0158617
•
Disease or Syndrome
Synonyms: AR - Congenital aortic regurgitation; Congenital aortic insufficiency; congenital aortic insufficiency; Congenital aortic regurgitation; Congenital Aortic Valve Insufficiency; congenital aortic valve insufficiency; Congenital insufficiency of aortic valve; congenital insufficiency of aortic valve; Congential aortic valve insufficiency
SNOMED CT: AR - Congenital aortic regurgitation (28656008); Congenital insufficiency of aortic valve (28656008); Congenital aortic insufficiency (28656008); Congenital aortic regurgitation (28656008)
 
Monarch Initiative: MONDO:0019809

Definition

Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital aortic valve insufficiency
Follow this link to review classifications for Congenital aortic valve insufficiency in Orphanet.

Professional guidelines

PubMed

Aorto-Left Ventricular Tunnel - Prenatal Diagnosis and Outcome.
Weber EC, Recker F, Herberg U, Oberhoffer R, Kurkevych A, Axt-Fliedner R, Geipel A, Gembruch U, Berg C, Gottschalk I
Ultraschall Med 2023 Aug;44(4):e184-e190. Epub 2022 May 5 doi: 10.1055/a-1823-0821. PMID: 35512837
A rare prenatal diagnosis: congenital absence of aortic valve.
Ayyildiz P, Aydemir MM, Guzeltas A
Cardiol Young 2022 Dec;32(12):2018-2020. Epub 2022 Mar 24 doi: 10.1017/S1047951122000919. PMID: 35322785
Treatment strategies for mixed aortic valve disease in nonelderly patients.
Von Stumm M, Petersen J, Westermann D, Reichenspurner H, Girdauskas E
Expert Rev Cardiovasc Ther 2019 Dec;17(12):873-882. Epub 2019 Dec 13 doi: 10.1080/14779072.2019.1702520. PMID: 31813303

Recent clinical studies

Etiology

Outcome of aortic valve repair in children with congenital aortic valve insufficiency.
Hasaniya N, Gundry SR, Razzouk AJ, Mulla N, Bailey LL
J Thorac Cardiovasc Surg 2004 Apr;127(4):970-4. doi: 10.1016/j.jtcvs.2003.10.023. PMID: 15052192

Diagnosis

Right coronary-left ventricular fistula mimicking aortic valve insufficiency in infancy.
Dobell AR, Long RW
J Thorac Cardiovasc Surg 1981 Nov;82(5):785-9. PMID: 7300410

Prognosis

Outcome of aortic valve repair in children with congenital aortic valve insufficiency.
Hasaniya N, Gundry SR, Razzouk AJ, Mulla N, Bailey LL
J Thorac Cardiovasc Surg 2004 Apr;127(4):970-4. doi: 10.1016/j.jtcvs.2003.10.023. PMID: 15052192

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