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Transposition of great arteries(DTGA1)

MedGen UID:
332422
Concept ID:
C1837341
Disease or Syndrome
Synonyms: Dextro-looped transposition of the great arteries; DTGA1; TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MED13L (12q24.21)
OMIM®: 608808

Definition

The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. Genetic Heterogeneity of Dextro-Looped Transposition of the Great Arteries DTGA3 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p12. The symbol 'DTGA2' was originally used to designate isolated cardiac malformations associated with mutations in the CFC1 gene (605194) on chromosome 2; DGTA2 has since been reclassified as a variant of a heterotaxy syndrome (HTX2; 605376). [from OMIM]

Clinical features

Transposition of the great arteries
MedGen UID:
760705
Concept ID:
C3536741
Congenital Abnormality
A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.

Recent clinical studies

Etiology

Yang B, Xu J, Zhou Z, Wang K, Chen J, Chen H, Wen M, Liang Q
Int Heart J 2016 Jul 27;57(4):473-6. Epub 2016 Jul 11 doi: 10.1536/ihj.15-487. PMID: 27396558
Kalfa D, Vergnat M, Baruteau AE, Belli E
Interact Cardiovasc Thorac Surg 2014 Jun;18(6):844-6. Epub 2014 Mar 4 doi: 10.1093/icvts/ivu049. PMID: 24595246
Roentgen P, Kaan M, Tutarel O, Meyer GP, Westhoff-Bleck M
Congenit Heart Dis 2014 May-Jun;9(3):259-65. Epub 2013 Sep 4 doi: 10.1111/chd.12137. PMID: 24034170
Talwar S, Ahmed T, Saxena A, Kothari SS, Juneja R, Airan B
World J Pediatr Congenit Heart Surg 2013 Jul;4(3):271-7. doi: 10.1177/2150135113476717. PMID: 24327495
Bisoi AK, Sharma P, Chauhan S, Reddy SM, Das S, Saxena A, Kothari SS
Eur J Cardiothorac Surg 2010 Dec;38(6):707-13. doi: 10.1016/j.ejcts.2010.03.037. PMID: 20663683

Diagnosis

Debost-Legrand A, Ouchchane L, Francannet C, Goumy C, Perthus I, Beaufrère AM, Gallot D, Lemery D, Lusson JR, Laurichesse-Delmas H
Birth Defects Res A Clin Mol Teratol 2016 Mar;106(3):178-84. Epub 2015 Dec 21 doi: 10.1002/bdra.23474. PMID: 26690971
Kalfa D, Vergnat M, Baruteau AE, Belli E
Interact Cardiovasc Thorac Surg 2014 Jun;18(6):844-6. Epub 2014 Mar 4 doi: 10.1093/icvts/ivu049. PMID: 24595246
Roentgen P, Kaan M, Tutarel O, Meyer GP, Westhoff-Bleck M
Congenit Heart Dis 2014 May-Jun;9(3):259-65. Epub 2013 Sep 4 doi: 10.1111/chd.12137. PMID: 24034170
Razzouk L, Applebaum RM, Okamura C, Saric M
Echocardiography 2013 Sep;30(8):E243-8. Epub 2013 Jul 1 doi: 10.1111/echo.12279. PMID: 23808930
Manso B, Castellote A, Dos L, Casaldáliga J
Cardiol Young 2010 Aug;20(4):410-7. Epub 2010 Apr 26 doi: 10.1017/S1047951109990503. PMID: 20416135

Therapy

Yang B, Xu J, Zhou Z, Wang K, Chen J, Chen H, Wen M, Liang Q
Int Heart J 2016 Jul 27;57(4):473-6. Epub 2016 Jul 11 doi: 10.1536/ihj.15-487. PMID: 27396558
Turon-Viñas A, Riverola-de Veciana A, Moreno-Hernando J, Bartrons-Casas J, Prada-Martínez FH, Mayol-Gómez J, Caffarena-Calvar JM
Rev Esp Cardiol (Engl Ed) 2014 Feb;67(2):114-9. Epub 2013 Nov 23 doi: 10.1016/j.rec.2013.06.017. PMID: 24795118
Roentgen P, Kaan M, Tutarel O, Meyer GP, Westhoff-Bleck M
Congenit Heart Dis 2014 May-Jun;9(3):259-65. Epub 2013 Sep 4 doi: 10.1111/chd.12137. PMID: 24034170
Panduranga P, Al-Maskari S, Al-Farqani A, Thomas E
Pediatr Cardiol 2013 Mar;34(3):736-8. Epub 2012 May 11 doi: 10.1007/s00246-012-0335-3. PMID: 22576765
Kutty S, Li L, Polak A, Gribben P, Danford DA
Am J Cardiol 2012 Mar 15;109(6):881-8. Epub 2011 Dec 22 doi: 10.1016/j.amjcard.2011.11.012. PMID: 22196781

Prognosis

Yang B, Xu J, Zhou Z, Wang K, Chen J, Chen H, Wen M, Liang Q
Int Heart J 2016 Jul 27;57(4):473-6. Epub 2016 Jul 11 doi: 10.1536/ihj.15-487. PMID: 27396558
Debost-Legrand A, Ouchchane L, Francannet C, Goumy C, Perthus I, Beaufrère AM, Gallot D, Lemery D, Lusson JR, Laurichesse-Delmas H
Birth Defects Res A Clin Mol Teratol 2016 Mar;106(3):178-84. Epub 2015 Dec 21 doi: 10.1002/bdra.23474. PMID: 26690971
Talwar S, Ahmed T, Saxena A, Kothari SS, Juneja R, Airan B
World J Pediatr Congenit Heart Surg 2013 Jul;4(3):271-7. doi: 10.1177/2150135113476717. PMID: 24327495
Bisoi AK, Sharma P, Chauhan S, Reddy SM, Das S, Saxena A, Kothari SS
Eur J Cardiothorac Surg 2010 Dec;38(6):707-13. doi: 10.1016/j.ejcts.2010.03.037. PMID: 20663683
Manso B, Castellote A, Dos L, Casaldáliga J
Cardiol Young 2010 Aug;20(4):410-7. Epub 2010 Apr 26 doi: 10.1017/S1047951109990503. PMID: 20416135

Clinical prediction guides

Debost-Legrand A, Ouchchane L, Francannet C, Goumy C, Perthus I, Beaufrère AM, Gallot D, Lemery D, Lusson JR, Laurichesse-Delmas H
Birth Defects Res A Clin Mol Teratol 2016 Mar;106(3):178-84. Epub 2015 Dec 21 doi: 10.1002/bdra.23474. PMID: 26690971
Sehgal S, Ramachandran S, Leff JD
Semin Cardiothorac Vasc Anesth 2015 Sep;19(3):243-7. Epub 2015 Jan 18 doi: 10.1177/1089253214566886. PMID: 25601596
Saygılı A, Yalçınbaş Y, Arnaz A, Sarıoğlu T
Turk Kardiyol Dern Ars 2014 Sep;42(6):571-3. PMID: 25362951
Roentgen P, Kaan M, Tutarel O, Meyer GP, Westhoff-Bleck M
Congenit Heart Dis 2014 May-Jun;9(3):259-65. Epub 2013 Sep 4 doi: 10.1111/chd.12137. PMID: 24034170
Manso B, Castellote A, Dos L, Casaldáliga J
Cardiol Young 2010 Aug;20(4):410-7. Epub 2010 Apr 26 doi: 10.1017/S1047951109990503. PMID: 20416135

Recent systematic reviews

Duppen N, Takken T, Hopman MT, ten Harkel AD, Dulfer K, Utens EM, Helbing WA
Int J Cardiol 2013 Oct 3;168(3):1779-87. Epub 2013 Jun 6 doi: 10.1016/j.ijcard.2013.05.086. PMID: 23746621
Siddiqui MT, Hasan A, Mohsin S, Hamid M, Amanullah MM
J Pak Med Assoc 2012 Oct;62(10):1113-7. PMID: 23866464
Working Group on Management of Congenital Heart Diseases in India.
Indian Pediatr 2008 Feb;45(2):117-26. PMID: 18310790

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