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Pulmonary valve defects

MedGen UID:
348039
Concept ID:
C1860165
Finding
HPO: HP:0005148

Definition

Any defect in the valve connecting the heart and the pulmonary artery. [from HPO]

Conditions with this feature

Acrocallosal syndrome
MedGen UID:
162915
Concept ID:
C0796147
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Professional guidelines

PubMed

Marchini F, Meossi S, Passarini G, Campo G, Pavasini R
Vasc Health Risk Manag 2023;19:379-390. Epub 2023 Jun 30 doi: 10.2147/VHRM.S380240. PMID: 37416511Free PMC Article
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Hahn RT, Abraham T, Adams MS, Bruce CJ, Glas KE, Lang RM, Reeves ST, Shanewise JS, Siu SC, Stewart W, Picard MH
J Am Soc Echocardiogr 2013 Sep;26(9):921-64. doi: 10.1016/j.echo.2013.07.009. PMID: 23998692

Recent clinical studies

Etiology

Gomez CB, Stutzbach PG, Guevara E, Favaloro RR
J Cardiothorac Vasc Anesth 2002 Aug;16(4):437-40. doi: 10.1053/jcan.2002.125147. PMID: 12154421
Favaloro R, Stutzbach P, Gomez C, Machain A, Casabe H
J Heart Valve Dis 2002 May;11(3):375-82; discussion 382. PMID: 12056730

Diagnosis

Kapusta L, Eveleigh RM, Poulino SE, Rijlaarsdam ME, du Marchie Sarvaas GJ, Strengers JL, Delhaas T, de Korte CL, Feuth T, Helbing WA
Eur Heart J 2007 Nov;28(21):2661-6. Epub 2007 Sep 24 doi: 10.1093/eurheartj/ehm398. PMID: 17895254
Gomez CB, Stutzbach PG, Guevara E, Favaloro RR
J Cardiothorac Vasc Anesth 2002 Aug;16(4):437-40. doi: 10.1053/jcan.2002.125147. PMID: 12154421

Prognosis

Elgaz S, Wittekindt B, Esmaeili A, Fischer S, Bolz HJ, Zechner U, Buxmann H
Cold Spring Harb Mol Case Stud 2022 Oct;8(6) Epub 2022 Oct 28 doi: 10.1101/mcs.a006213. PMID: 36307213Free PMC Article
Kapusta L, Eveleigh RM, Poulino SE, Rijlaarsdam ME, du Marchie Sarvaas GJ, Strengers JL, Delhaas T, de Korte CL, Feuth T, Helbing WA
Eur Heart J 2007 Nov;28(21):2661-6. Epub 2007 Sep 24 doi: 10.1093/eurheartj/ehm398. PMID: 17895254
Gomez CB, Stutzbach PG, Guevara E, Favaloro RR
J Cardiothorac Vasc Anesth 2002 Aug;16(4):437-40. doi: 10.1053/jcan.2002.125147. PMID: 12154421
Favaloro R, Stutzbach P, Gomez C, Machain A, Casabe H
J Heart Valve Dis 2002 May;11(3):375-82; discussion 382. PMID: 12056730

Clinical prediction guides

Gomez CB, Stutzbach PG, Guevara E, Favaloro RR
J Cardiothorac Vasc Anesth 2002 Aug;16(4):437-40. doi: 10.1053/jcan.2002.125147. PMID: 12154421

Supplemental Content

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