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Patent ductus arteriosus 2(PDA2)

MedGen UID:
924886
Concept ID:
C4284595
Disease or Syndrome
Synonym: PDA2
 
Gene (location): TFAP2B (6p12.3)
 
Monarch Initiative: MONDO:0014878
OMIM®: 617035

Definition

The ductus arteriosus is a muscular artery connecting the pulmonary artery and the aorta during fetal life, shunting blood away from the lungs. It normally occludes shortly after birth. Failure of ductal closure results in PDA, one of the most common congenital heart defects, affecting 1 in 2,000 to 1 in 5,000 full-term infants and constituting 5% to 7% of all congenital heart defects (summary by Mani et al., 2005). PDA can be an isolated anomaly or occur in association with other congenital anomalies (summary by Khetyar et al., 2008). For a discussion of genetic heterogeneity of isolated PDA, see PDA1 (607411). [from OMIM]

Clinical features

From HPO
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Patent ductus arteriosus
MedGen UID:
4415
Concept ID:
C0013274
Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.

Professional guidelines

PubMed

Blei F, McElhinney DB, Guarini A, Presti S
Pediatr Dermatol 2014 Jul-Aug;31(4):465-70. Epub 2014 May 29 doi: 10.1111/pde.12344. PMID: 24889812
Agapito AF, Sousa L, Oliveira JA, Feliciano J, Cacela D, Quininha J
Rev Port Cardiol 2005 Mar;24(3):421-31. PMID: 15929625

Recent clinical studies

Etiology

LaHaye S, Corsmeier D, Basu M, Bowman JL, Fitzgerald-Butt S, Zender G, Bosse K, McBride KL, White P, Garg V
Circ Cardiovasc Genet 2016 Aug;9(4):320-9. Epub 2016 Jul 14 doi: 10.1161/CIRCGENETICS.115.001324. PMID: 27418595Free PMC Article
Tantchou Tchoumi JC, Butera G
Bull Soc Pathol Exot 2009 Aug;102(3):155-8. PMID: 19739409
Parvathy U, Balakrishnan KR, Ranjith MS, Saldanha R, Sai S, Vakamudi M
Indian Heart J 2000 Jul-Aug;52(4):438-41. PMID: 11084787
Gupta I, Gupta ML, Parihar A, Gupta CD
J Indian Med Assoc 1992 Mar;90(3):57-9. PMID: 1634785
Mazzucco A, Scalia D, Faggian G, Bortolotti U, Stellin G, Aru G, Valfrè C, Gallucci V
Int Surg 1983 Jul-Sep;68(3):207-10. PMID: 6198302

Diagnosis

Cao T, Chen Q, Wang B, Hu J, Zou M, Zhang Q
J Craniofac Surg 2021 May 1;32(3):920-924. doi: 10.1097/SCS.0000000000007296. PMID: 33252535
LaHaye S, Corsmeier D, Basu M, Bowman JL, Fitzgerald-Butt S, Zender G, Bosse K, McBride KL, White P, Garg V
Circ Cardiovasc Genet 2016 Aug;9(4):320-9. Epub 2016 Jul 14 doi: 10.1161/CIRCGENETICS.115.001324. PMID: 27418595Free PMC Article
Tantchou Tchoumi JC, Butera G
Bull Soc Pathol Exot 2009 Aug;102(3):155-8. PMID: 19739409
Corno AF, Bonnet D, Sekarski N, Sidi D, Vouhé P, von Segesser LK
J Thorac Cardiovasc Surg 2003 Dec;126(6):1775-80. doi: 10.1016/j.jtcvs.2003.06.011. PMID: 14688686
Parvathy U, Balakrishnan KR, Ranjith MS, Saldanha R, Sai S, Vakamudi M
Indian Heart J 2000 Jul-Aug;52(4):438-41. PMID: 11084787

Therapy

LaHaye S, Corsmeier D, Basu M, Bowman JL, Fitzgerald-Butt S, Zender G, Bosse K, McBride KL, White P, Garg V
Circ Cardiovasc Genet 2016 Aug;9(4):320-9. Epub 2016 Jul 14 doi: 10.1161/CIRCGENETICS.115.001324. PMID: 27418595Free PMC Article
Corno AF, Bonnet D, Sekarski N, Sidi D, Vouhé P, von Segesser LK
J Thorac Cardiovasc Surg 2003 Dec;126(6):1775-80. doi: 10.1016/j.jtcvs.2003.06.011. PMID: 14688686
Rothenberg SS, Chang JH, Bealer JF
Am J Surg 1998 Dec;176(6):654-8. doi: 10.1016/s0002-9610(98)00278-5. PMID: 9926808
Gupta I, Gupta ML, Parihar A, Gupta CD
J Indian Med Assoc 1992 Mar;90(3):57-9. PMID: 1634785

Prognosis

LaHaye S, Corsmeier D, Basu M, Bowman JL, Fitzgerald-Butt S, Zender G, Bosse K, McBride KL, White P, Garg V
Circ Cardiovasc Genet 2016 Aug;9(4):320-9. Epub 2016 Jul 14 doi: 10.1161/CIRCGENETICS.115.001324. PMID: 27418595Free PMC Article
Tantchou Tchoumi JC, Butera G
Bull Soc Pathol Exot 2009 Aug;102(3):155-8. PMID: 19739409
Görgülü S, Eren M, Yildirim A, Ozer O, Uslu N, Celik S, Dağdeviren B, Nurkalem Z, Bağirtan B, Tezel T
Anadolu Kardiyol Derg 2003 Jun;3(2):92-7. PMID: 12826499
Parvathy U, Balakrishnan KR, Ranjith MS, Saldanha R, Sai S, Vakamudi M
Indian Heart J 2000 Jul-Aug;52(4):438-41. PMID: 11084787

Clinical prediction guides

LaHaye S, Corsmeier D, Basu M, Bowman JL, Fitzgerald-Butt S, Zender G, Bosse K, McBride KL, White P, Garg V
Circ Cardiovasc Genet 2016 Aug;9(4):320-9. Epub 2016 Jul 14 doi: 10.1161/CIRCGENETICS.115.001324. PMID: 27418595Free PMC Article
Tantchou Tchoumi JC, Butera G
Bull Soc Pathol Exot 2009 Aug;102(3):155-8. PMID: 19739409
Görgülü S, Eren M, Yildirim A, Ozer O, Uslu N, Celik S, Dağdeviren B, Nurkalem Z, Bağirtan B, Tezel T
Anadolu Kardiyol Derg 2003 Jun;3(2):92-7. PMID: 12826499

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