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Cardiac septal defects with coarctation of the aorta

MedGen UID:
347855
•Concept ID:
C1859331
•
Disease or Syndrome
Synonym: Cardiac Septal Defects with Coarctation of the Aorta
 
Monarch Initiative: MONDO:0008912
OMIM®: 212090

Clinical features

From HPO
Coarctation of aorta
MedGen UID:
1617
•Concept ID:
C0003492
•
Congenital Abnormality
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
See: Feature record | Search on this feature
Secundum atrial septal defect
MedGen UID:
91034
•Concept ID:
C0344724
•
Congenital Abnormality
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
See: Feature record | Search on this feature
Perimembranous ventricular septal defect
MedGen UID:
87490
•Concept ID:
C0344925
•
Congenital Abnormality
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Prenatal diagnosis of hypoplastic aortic arch without intracardiac malformations: The nevada experience.
Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Rothman A, Galindo A, Restrepo H
J Card Surg 2022 Nov;37(11):3705-3710. Epub 2022 Sep 1 doi: 10.1111/jocs.16834. PMID: 36047366
Management of women with epilepsy: from preconception to post-partum.
Laganà AS, Triolo O, D'Amico V, Cartella SM, Sofo V, Salmeri FM, Vrtačnik Bokal E, Spina E
Arch Gynecol Obstet 2016 Mar;293(3):493-503. Epub 2015 Nov 30 doi: 10.1007/s00404-015-3968-7. PMID: 26626184
Unilateral absence of pulmonary artery: pathophysiology, symptoms, diagnosis and current treatment.
Kruzliak P, Syamasundar RP, Novak M, Pechanova O, Kovacova G
Arch Cardiovasc Dis 2013 Aug-Sep;106(8-9):448-54. Epub 2013 Aug 9 doi: 10.1016/j.acvd.2013.05.004. PMID: 23938302

Recent clinical studies

Etiology

Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
Aortopulmonary window.
Barnes ME, Mitchell ME, Tweddell JS
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2011;14(1):67-74. doi: 10.1053/j.pcsu.2011.01.017. PMID: 21444051
Pediatric cardiac interventions.
Hijazi ZM, Awad SM
JACC Cardiovasc Interv 2008 Dec;1(6):603-11. doi: 10.1016/j.jcin.2008.07.007. PMID: 19463373
Fetal echocardiography.
Srinivasan S
Indian J Pediatr 2000 Jul;67(7):515-21. doi: 10.1007/BF02760481. PMID: 10957837
Balloon dilation catheters.
Radtke W, Lock J
Pediatr Clin North Am 1990 Feb;37(1):193-213. doi: 10.1016/s0031-3955(16)36840-7. PMID: 2408000

Diagnosis

Prenatal diagnosis of hypoplastic aortic arch without intracardiac malformations: The nevada experience.
Evans WN, Acherman RJ, Ciccolo ML, Lehoux J, Rothman A, Galindo A, Restrepo H
J Card Surg 2022 Nov;37(11):3705-3710. Epub 2022 Sep 1 doi: 10.1111/jocs.16834. PMID: 36047366
Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
Aortopulmonary window.
Barnes ME, Mitchell ME, Tweddell JS
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2011;14(1):67-74. doi: 10.1053/j.pcsu.2011.01.017. PMID: 21444051
Pediatric cardiac catheterization.
Rocchini AP
Curr Opin Cardiol 2002 May;17(3):283-8. doi: 10.1097/00001573-200205000-00013. PMID: 12015480
Fetal echocardiography.
Srinivasan S
Indian J Pediatr 2000 Jul;67(7):515-21. doi: 10.1007/BF02760481. PMID: 10957837

Therapy

Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
Management of women with epilepsy: from preconception to post-partum.
Laganà AS, Triolo O, D'Amico V, Cartella SM, Sofo V, Salmeri FM, Vrtačnik Bokal E, Spina E
Arch Gynecol Obstet 2016 Mar;293(3):493-503. Epub 2015 Nov 30 doi: 10.1007/s00404-015-3968-7. PMID: 26626184
Pediatric cardiac interventions.
Hijazi ZM, Awad SM
JACC Cardiovasc Interv 2008 Dec;1(6):603-11. doi: 10.1016/j.jcin.2008.07.007. PMID: 19463373
Interventional catheterization.
Nakanishi T
Curr Opin Cardiol 2000 Jul;15(4):211-5. doi: 10.1097/00001573-200007000-00002. PMID: 11139083
Balloon dilation catheters.
Radtke W, Lock J
Pediatr Clin North Am 1990 Feb;37(1):193-213. doi: 10.1016/s0031-3955(16)36840-7. PMID: 2408000

Prognosis

Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Long-term Follow-up of "Simple" Lesions--Atrial Septal Defect, Ventricular Septal Defect, and Coarctation of the Aorta.
Goldberg JF
Congenit Heart Dis 2015 Sep-Oct;10(5):466-74. Epub 2015 Sep 14 doi: 10.1111/chd.12298. PMID: 26365715
The role of cardiovascular magnetic resonance in adults with congenital heart disease.
Kilner PJ
Prog Cardiovasc Dis 2011 Nov-Dec;54(3):295-304. doi: 10.1016/j.pcad.2011.07.006. PMID: 22014496Free PMC Article
Aortopulmonary window.
Barnes ME, Mitchell ME, Tweddell JS
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2011;14(1):67-74. doi: 10.1053/j.pcsu.2011.01.017. PMID: 21444051

Clinical prediction guides

The Impact of Technology on the Diagnosis of Congenital Malformations.
Straub L, Huybrechts KF, Bateman BT, Mogun H, Gray KJ, Holmes LB, Hernandez-Diaz S
Am J Epidemiol 2019 Nov 1;188(11):1892-1901. doi: 10.1093/aje/kwz153. PMID: 31241162Free PMC Article
Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
Associated congenital anomalies among cases with Down syndrome.
Stoll C, Dott B, Alembik Y, Roth MP
Eur J Med Genet 2015 Dec;58(12):674-80. Epub 2015 Nov 11 doi: 10.1016/j.ejmg.2015.11.003. PMID: 26578241
Hepatogonadal fusion.
Fan R, Faught PR, Sun J, Meldrum KK
J Pediatr Surg 2012 Feb;47(2):e5-6. doi: 10.1016/j.jpedsurg.2011.10.071. PMID: 22325418
The role of cardiovascular magnetic resonance in adults with congenital heart disease.
Kilner PJ
Prog Cardiovasc Dis 2011 Nov-Dec;54(3):295-304. doi: 10.1016/j.pcad.2011.07.006. PMID: 22014496Free PMC Article

Recent systematic reviews

Neonatal management of aortic coarctation with ventricular septal defect: a systematic review and meta-analysis.
Kasdi R, Bounader K, Lemdani M
J Cardiovasc Surg (Torino) 2020 Aug;61(4):478-488. Epub 2020 Apr 29 doi: 10.23736/S0021-9509.20.11075-9. PMID: 32352247
Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.
Familiari A, Morlando M, Khalil A, Sonesson SE, Scala C, Rizzo G, Del Sordo G, Vassallo C, Elena Flacco M, Manzoli L, Lanzone A, Scambia G, Acharya G, D'Antonio F
Circulation 2017 Feb 21;135(8):772-785. Epub 2016 Dec 29 doi: 10.1161/CIRCULATIONAHA.116.024068. PMID: 28034902
Ambient air pollution and risk of congenital anomalies: a systematic review and meta-analysis.
Vrijheid M, Martinez D, Manzanares S, Dadvand P, Schembari A, Rankin J, Nieuwenhuijsen M
Environ Health Perspect 2011 May;119(5):598-606. Epub 2010 Dec 3 doi: 10.1289/ehp.1002946. PMID: 21131253Free PMC Article
Unicuspid aortic valve in children: a systematic review spanning four decades.
Mookadam F, Thota VR, Lopez AM, Emani UR, Tajik AJ
J Heart Valve Dis 2010 Nov;19(6):678-83. PMID: 21214089
Long-term prognosis of congenital heart defects: a systematic review.
Verheugt CL, Uiterwaal CS, Grobbee DE, Mulder BJ
Int J Cardiol 2008 Dec 17;131(1):25-32. Epub 2008 Aug 6 doi: 10.1016/j.ijcard.2008.06.023. PMID: 18687485

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