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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.
Atrial septal defect, ostium secundum type
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.
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.

Professional guidelines

PubMed

Zwanenburg F, Ten Harkel ADJ, Snoep MC, Bet BB, Linskens IH, Knobbe I, Pajkrt E, Blom NA, Clur SB, Haak MC
Prenat Diagn 2023 May;43(5):620-628. Epub 2023 Jan 5 doi: 10.1002/pd.6291. PMID: 36549919
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
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

Recent clinical studies

Etiology

Pavlicek J, Klaskova E, Kapralova S, Palatova AM, Piegzova A, Spacek R, Gruszka T
BMC Pediatr 2021 Nov 30;21(1):528. doi: 10.1186/s12887-021-02997-2. PMID: 34847867Free PMC Article
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
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
Hijazi ZM, Awad SM
JACC Cardiovasc Interv 2008 Dec;1(6):603-11. doi: 10.1016/j.jcin.2008.07.007. PMID: 19463373
Srinivasan S
Indian J Pediatr 2000 Mar;67(3 Suppl):S20-5. PMID: 11129916

Diagnosis

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
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
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
Hijazi ZM, Awad SM
JACC Cardiovasc Interv 2008 Dec;1(6):603-11. doi: 10.1016/j.jcin.2008.07.007. PMID: 19463373
Srinivasan S
Indian J Pediatr 2000 Mar;67(3 Suppl):S20-5. PMID: 11129916

Therapy

Kulyabin YY, Voitov AV, Nichay NR, Soynov IA, Zubritskiy AV, Bogachev-Prokophiev AV
Interact Cardiovasc Thorac Surg 2022 Jul 9;35(2) doi: 10.1093/icvts/ivac186. PMID: 35758623Free PMC Article
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
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
Hijazi ZM, Awad SM
JACC Cardiovasc Interv 2008 Dec;1(6):603-11. doi: 10.1016/j.jcin.2008.07.007. PMID: 19463373
Nakanishi T
Curr Opin Cardiol 2000 Jul;15(4):211-5. doi: 10.1097/00001573-200007000-00002. PMID: 11139083

Prognosis

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
Kilner PJ
Prog Cardiovasc Dis 2011 Nov-Dec;54(3):295-304. doi: 10.1016/j.pcad.2011.07.006. PMID: 22014496Free PMC Article
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
Srinivasan S
Indian J Pediatr 2000 Mar;67(3 Suppl):S20-5. PMID: 11129916
Simpson JM
Ultrasound Obstet Gynecol 2000 Apr;15(4):271-8. doi: 10.1046/j.1469-0705.2000.00086.x. PMID: 10895443

Clinical prediction guides

Mamasoula C, Bigirumurame T, Chadwick T, Addor MC, Cavero-Carbonell C, Dias CM, Echevarría-González-de-Garibay LJ, Gatt M, Khoshnood B, Klungsoyr K, Randall K, Stoianova S, Haeusler M, Nelen V, Neville AJ, Perthus I, Pierini A, Bertaut-Nativel B, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Zymak-Zakutnia N, Barisic I, de Walle HEK, Lanzoni M, Sayers G, Mullaney C, Pennington L, Rankin J
Birth Defects Res 2023 Apr 1;115(6):583-594. Epub 2023 Feb 3 doi: 10.1002/bdr2.2152. PMID: 36734416
Pan F, Li J, Lou H, Li J, Jin Y, Wu T, Pan L, An J, Xu J, Cheng W, Tao L, Lei Y, Huang C, Yin F, Chen J, Zhu J, Shu Q, Xu W
Curr Probl Cardiol 2022 Nov;47(11):101341. Epub 2022 Jul 31 doi: 10.1016/j.cpcardiol.2022.101341. PMID: 35921873
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
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
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

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
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
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
Mookadam F, Thota VR, Lopez AM, Emani UR, Tajik AJ
J Heart Valve Dis 2010 Nov;19(6):678-83. PMID: 21214089
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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