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Patent ductus arteriosus after birth at term

MedGen UID:
868839
Concept ID:
C4023249
Congenital Abnormality
HPO: HP:0011648

Definition

Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPatent ductus arteriosus after birth at term

Conditions with this feature

Autosomal recessive cutis laxa type 2C
MedGen UID:
1385755
Concept ID:
C4479387
Disease or Syndrome
Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).
Long QT syndrome 16
MedGen UID:
1713991
Concept ID:
C5394068
Disease or Syndrome
LQT16 Long QT syndrome-16 (LQT16) is characterized by a markedly prolonged corrected QT (QTc) interval and 2:1 atrioventricular (AV) block, with onset in the perinatal period. Patients experience bradycardia or ventricular tachyarrhythmias that may result in syncope, cardiac arrest, and/or sudden death (Reed et al., 2015; Wren et al., 2019). Patients with LQT14 (616247), LQT15 (616249), or LQT16, resulting from mutation in calmodulin genes CALM1 (114180), CALM2 (114182), or CALM3, respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). CPVT6 Catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) is characterized by childhood-onset syncopal episodes with exercise or stress. Electrocardiogram (ECG) shows a normal QT interval with a prominent U wave, and stress testing reveals premature ventricular contractions (PVCs) that may occur as bigeminy or couplets, and nonsustained ventricular tachycardia (Gomez-Hurtado et al., 2016).

Professional guidelines

PubMed

Ohlsson A, Walia R, Shah SS
Cochrane Database Syst Rev 2020 Feb 11;2(2):CD003481. doi: 10.1002/14651858.CD003481.pub8. PMID: 32045960Free PMC Article
Conrad C, Newberry D
Adv Neonatal Care 2019 Jun;19(3):179-187. doi: 10.1097/ANC.0000000000000590. PMID: 30720481
Nagasawa H, Terazawa D, Kohno Y, Yamamoto Y, Kondo M, Sugawara M, Koyama T, Miura R
Pediatr Neonatol 2014 Aug;55(4):250-5. Epub 2013 Dec 25 doi: 10.1016/j.pedneo.2013.10.009. PMID: 24373670

Recent clinical studies

Etiology

Gupta S, Subhedar NV, Bell JL, Field D, Bowler U, Hutchison E, Johnson S, Kelsall W, Pepperell J, Roberts T, Sinha S, Stanbury K, Wyllie J, Hardy P, Juszczak E; Baby-OSCAR Collaborative Group
N Engl J Med 2024 Jan 25;390(4):314-325. doi: 10.1056/NEJMoa2305582. PMID: 38265644Free PMC Article
Ohlsson A, Walia R, Shah SS
Cochrane Database Syst Rev 2020 Feb 11;2(2):CD003481. doi: 10.1002/14651858.CD003481.pub8. PMID: 32045960Free PMC Article
Su BH, Lin HY, Chiu HY, Tsai ML, Chen YT, Lu IC
Pediatr Neonatol 2020 Apr;61(2):133-141. Epub 2019 Oct 29 doi: 10.1016/j.pedneo.2019.10.002. PMID: 31740267
Ashrafi AH, Levy VY
Curr Opin Cardiol 2019 Jan;34(1):41-45. doi: 10.1097/HCO.0000000000000580. PMID: 30394907
Engeseth MS, Olsen NR, Maeland S, Halvorsen T, Goode A, Røksund OD
Paediatr Respir Rev 2018 Jun;27:74-85. Epub 2017 Nov 15 doi: 10.1016/j.prrv.2017.11.001. PMID: 29336933

Diagnosis

Ashrafi AH, Levy VY
Curr Opin Cardiol 2019 Jan;34(1):41-45. doi: 10.1097/HCO.0000000000000580. PMID: 30394907
Engeseth MS, Olsen NR, Maeland S, Halvorsen T, Goode A, Røksund OD
Paediatr Respir Rev 2018 Jun;27:74-85. Epub 2017 Nov 15 doi: 10.1016/j.prrv.2017.11.001. PMID: 29336933
Chugh R, Salem MM
Echocardiography 2015 Jan;32 Suppl 2:S125-39. Epub 2014 May 29 doi: 10.1111/echo.12457. PMID: 24888537
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Capozzi G, Santoro G
J Matern Fetal Neonatal Med 2011 Oct;24 Suppl 1:15-6. Epub 2011 Sep 6 doi: 10.3109/14767058.2011.607564. PMID: 21892883

Therapy

Gupta S, Subhedar NV, Bell JL, Field D, Bowler U, Hutchison E, Johnson S, Kelsall W, Pepperell J, Roberts T, Sinha S, Stanbury K, Wyllie J, Hardy P, Juszczak E; Baby-OSCAR Collaborative Group
N Engl J Med 2024 Jan 25;390(4):314-325. doi: 10.1056/NEJMoa2305582. PMID: 38265644Free PMC Article
Ohlsson A, Walia R, Shah SS
Cochrane Database Syst Rev 2020 Feb 11;2(2):CD003481. doi: 10.1002/14651858.CD003481.pub8. PMID: 32045960Free PMC Article
Su BH, Lin HY, Chiu HY, Tsai ML, Chen YT, Lu IC
Pediatr Neonatol 2020 Apr;61(2):133-141. Epub 2019 Oct 29 doi: 10.1016/j.pedneo.2019.10.002. PMID: 31740267
Conrad C, Newberry D
Adv Neonatal Care 2019 Jun;19(3):179-187. doi: 10.1097/ANC.0000000000000590. PMID: 30720481
Ashrafi AH, Levy VY
Curr Opin Cardiol 2019 Jan;34(1):41-45. doi: 10.1097/HCO.0000000000000580. PMID: 30394907

Prognosis

Nealon E, Rivera BK, Cua CL, Ball MK, Stiver C, Boe BA, Slaughter JL, Chisolm J, Smith CV, Cooper JN, Armstrong AK, Berman DP, Backes CH
J Pediatr 2019 Sep;212:144-150.e3. Epub 2019 Jun 28 doi: 10.1016/j.jpeds.2019.05.070. PMID: 31262530Free PMC Article
Ohlsson A, Shah PS
Cochrane Database Syst Rev 2018 Apr 6;4(4):CD010061. doi: 10.1002/14651858.CD010061.pub3. PMID: 29624206Free PMC Article
Ohlsson A, Shah PS
Cochrane Database Syst Rev 2015 Mar 11;(3):CD010061. doi: 10.1002/14651858.CD010061.pub2. PMID: 25758061
Chugh R, Salem MM
Echocardiography 2015 Jan;32 Suppl 2:S125-39. Epub 2014 May 29 doi: 10.1111/echo.12457. PMID: 24888537
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article

Clinical prediction guides

Nealon E, Rivera BK, Cua CL, Ball MK, Stiver C, Boe BA, Slaughter JL, Chisolm J, Smith CV, Cooper JN, Armstrong AK, Berman DP, Backes CH
J Pediatr 2019 Sep;212:144-150.e3. Epub 2019 Jun 28 doi: 10.1016/j.jpeds.2019.05.070. PMID: 31262530Free PMC Article
Conrad C, Newberry D
Adv Neonatal Care 2019 Jun;19(3):179-187. doi: 10.1097/ANC.0000000000000590. PMID: 30720481
Engeseth MS, Olsen NR, Maeland S, Halvorsen T, Goode A, Røksund OD
Paediatr Respir Rev 2018 Jun;27:74-85. Epub 2017 Nov 15 doi: 10.1016/j.prrv.2017.11.001. PMID: 29336933
Evans N
Semin Fetal Neonatal Med 2015 Aug;20(4):272-7. Epub 2015 Mar 25 doi: 10.1016/j.siny.2015.03.004. PMID: 25818393
Pacifici GM
Paediatr Drugs 2013 Oct;15(5):363-76. doi: 10.1007/s40272-013-0031-7. PMID: 23754139

Recent systematic reviews

Ohlsson A, Walia R, Shah SS
Cochrane Database Syst Rev 2020 Feb 11;2(2):CD003481. doi: 10.1002/14651858.CD003481.pub8. PMID: 32045960Free PMC Article
Ohlsson A, Walia R, Shah SS
Cochrane Database Syst Rev 2018 Sep 28;9(9):CD003481. doi: 10.1002/14651858.CD003481.pub7. PMID: 30264852Free PMC Article
Ohlsson A, Shah PS
Cochrane Database Syst Rev 2018 Apr 6;4(4):CD010061. doi: 10.1002/14651858.CD010061.pub3. PMID: 29624206Free PMC Article
Engeseth MS, Olsen NR, Maeland S, Halvorsen T, Goode A, Røksund OD
Paediatr Respir Rev 2018 Jun;27:74-85. Epub 2017 Nov 15 doi: 10.1016/j.prrv.2017.11.001. PMID: 29336933
Ohlsson A, Shah PS
Cochrane Database Syst Rev 2015 Mar 11;(3):CD010061. doi: 10.1002/14651858.CD010061.pub2. PMID: 25758061

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