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Scimitar anomaly

MedGen UID:
20675
•Concept ID:
C0036400
•
Disease or Syndrome
Synonym: Scimitar syndrome
SNOMED CT: Pulmonary venolobar syndrome (39905002); Scimitar syndrome (39905002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0015987
OMIM®: 106700
Orphanet: ORPHA185

Definition

Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVScimitar anomaly
Follow this link to review classifications for Scimitar anomaly in Orphanet.

Professional guidelines

PubMed

The frequency and efficacy of genetic testing in individuals with scimitar syndrome.
Fick TA, Scott DA, Lupo PJ, Weigand J, Morris SA
Cardiol Young 2022 Apr;32(4):550-557. Epub 2021 Jul 2 doi: 10.1017/S1047951121002535. PMID: 34210367Free PMC Article
Prenatal diagnosis of total anomalous pulmonary venous connection: 2D and 3D echocardiographic findings.
Bravo-Valenzuela NJM, Peixoto AB, Araujo Júnior E
J Clin Ultrasound 2021 Mar;49(3):240-247. Epub 2021 Jan 4 doi: 10.1002/jcu.22973. PMID: 33398887
Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis.
Paladini D, Pistorio A, Wu LH, Meccariello G, Lei T, Tuo G, Donarini G, Marasini M, Xie HN
Ultrasound Obstet Gynecol 2018 Jul;52(1):24-34. doi: 10.1002/uog.18907. PMID: 28926132

Recent clinical studies

Diagnosis

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome?
Ruggieri M, Abbate M, Parano E, Distefano A, Guarnera S, Pavone L
Am J Med Genet A 2003 Jan 15;116A(2):170-5. doi: 10.1002/ajmg.a.10115. PMID: 12494437

Prognosis

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome?
Ruggieri M, Abbate M, Parano E, Distefano A, Guarnera S, Pavone L
Am J Med Genet A 2003 Jan 15;116A(2):170-5. doi: 10.1002/ajmg.a.10115. PMID: 12494437

Clinical prediction guides

Scimitar vein anomaly with multiple cardiac malformations, craniofacial, and central nervous system abnormalities in a brother and sister: familial scimitar anomaly or new syndrome?
Ruggieri M, Abbate M, Parano E, Distefano A, Guarnera S, Pavone L
Am J Med Genet A 2003 Jan 15;116A(2):170-5. doi: 10.1002/ajmg.a.10115. PMID: 12494437

Supplemental Content

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    Related information

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    • MeSH
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