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Cardiac defects

MedGen UID:
152859
•Concept ID:
C0741916
•
Disease or Syndrome
Synonym: Cardiac defect

Professional guidelines

PubMed

2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM, Crumb SR, Dearani JA, Fuller S, Gurvitz M, Khairy P, Landzberg MJ, Saidi A, Valente AM, Van Hare GF
J Am Coll Cardiol 2019 Apr 2;73(12):1494-1563. Epub 2018 Aug 16 doi: 10.1016/j.jacc.2018.08.1028. PMID: 30121240
2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM, Crumb SR, Dearani JA, Fuller S, Gurvitz M, Khairy P, Landzberg MJ, Saidi A, Valente AM, Van Hare GF
J Am Coll Cardiol 2019 Apr 2;73(12):e81-e192. Epub 2018 Aug 16 doi: 10.1016/j.jacc.2018.08.1029. PMID: 30121239
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD
Am J Hum Genet 2002 Jun;70(6):1555-63. Epub 2002 May 1 doi: 10.1086/340847. PMID: 11992261Free PMC Article

Recent clinical studies

Etiology

Arrhythmias in Congenital Heart Disease.
Kline J, Costantini O
Med Clin North Am 2019 Sep;103(5):945-956. doi: 10.1016/j.mcna.2019.04.007. PMID: 31378336
Persistent Left Superior Vena Cava in Fetuses: An Autopsy Series.
Ramakrishnan D, Chidambarathanu S, Murli L, Micheal J, Jagadeesh S, Suresh I, Seshadri S
Fetal Pediatr Pathol 2017 Aug;36(4):304-310. Epub 2017 Jun 1 doi: 10.1080/15513815.2017.1324546. PMID: 28569558
Pulmonary Hypertension.
Oishi P, Fineman JR
Pediatr Crit Care Med 2016 Aug;17(8 Suppl 1):S140-5. doi: 10.1097/PCC.0000000000000754. PMID: 27490592Free PMC Article
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Congenital malformations.
Gadow EC, Otaño L, Lippold SE
Curr Opin Obstet Gynecol 1996 Dec;8(6):412-6. PMID: 8979012

Diagnosis

Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.
Rodríguez Bandera AI, Sebaratnam DF, Wargon O, Wong LF
J Am Acad Dermatol 2021 Dec;85(6):1379-1392. Epub 2021 Aug 19 doi: 10.1016/j.jaad.2021.08.019. PMID: 34419524
2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM, Crumb SR, Dearani JA, Fuller S, Gurvitz M, Khairy P, Landzberg MJ, Saidi A, Valente AM, Van Hare GF
Circulation 2019 Apr 2;139(14):e698-e800. doi: 10.1161/CIR.0000000000000603. PMID: 30586767
Pulmonary Hypertension.
Oishi P, Fineman JR
Pediatr Crit Care Med 2016 Aug;17(8 Suppl 1):S140-5. doi: 10.1097/PCC.0000000000000754. PMID: 27490592Free PMC Article
Cardiac developmental toxicity.
Mahler GJ, Butcher JT
Birth Defects Res C Embryo Today 2011 Dec;93(4):291-7. doi: 10.1002/bdrc.20219. PMID: 22271678Free PMC Article
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article

Therapy

PHACE syndrome: clinical manifestations, diagnostic criteria, and management.
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B
An Bras Dermatol 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. PMID: 29924216Free PMC Article
Perioperative and Anesthetic Considerations in Atrioventricular Septal Defect.
Ross FJ, Nasr VG, Joffe D, Latham GJ
Semin Cardiothorac Vasc Anesth 2017 Sep;21(3):221-228. Epub 2017 Jun 7 doi: 10.1177/1089253217706166. PMID: 28592182
PHACE syndrome--clinical features, aetiology and management.
Winter PR, Itinteang T, Leadbitter P, Tan ST
Acta Paediatr 2016 Feb;105(2):145-53. Epub 2015 Nov 27 doi: 10.1111/apa.13242. PMID: 26469095
The management of conjoined twins: Cardiology assessment.
Andrews RE, Yates RW, Sullivan ID
Semin Pediatr Surg 2015 Oct;24(5):217-20. Epub 2015 Jul 9 doi: 10.1053/j.sempedsurg.2015.07.003. PMID: 26382259
Folate and asthma.
Blatter J, Han YY, Forno E, Brehm J, Bodnar L, Celedón JC
Am J Respir Crit Care Med 2013 Jul 1;188(1):12-7. doi: 10.1164/rccm.201302-0317PP. PMID: 23650899Free PMC Article

Prognosis

The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G
Am J Med Genet C Semin Med Genet 2022 Dec;190(4):440-451. Epub 2022 Nov 21 doi: 10.1002/ajmg.c.32014. PMID: 36408797
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Noonan syndrome.
Turner AM
J Paediatr Child Health 2014 Oct;50(10):E14-20. Epub 2011 Jul 19 doi: 10.1111/j.1440-1754.2010.01970.x. PMID: 21771153
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article

Clinical prediction guides

Feature tracking cardiac magnetic resonance imaging to assess cardiac manifestations of systemic diseases.
Pezeshki PS, Ghorashi SM, Houshmand G, Ganjparvar M, Pouraliakbar H, Rezaei-Kalantari K, Fazeli A, Omidi N
Heart Fail Rev 2023 Sep;28(5):1189-1199. Epub 2023 May 16 doi: 10.1007/s10741-023-10321-6. PMID: 37191926Free PMC Article
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 May;55(5):637-644. doi: 10.1002/uog.21956. PMID: 31875326
Folate and asthma.
Blatter J, Han YY, Forno E, Brehm J, Bodnar L, Celedón JC
Am J Respir Crit Care Med 2013 Jul 1;188(1):12-7. doi: 10.1164/rccm.201302-0317PP. PMID: 23650899Free PMC Article
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M
Orphanet J Rare Dis 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. PMID: 17547743Free PMC Article
Holt-Oram syndrome.
Smith AT, Sack GH Jr, Taylor GJ
J Pediatr 1979 Oct;95(4):538-43. doi: 10.1016/s0022-3476(79)80758-1. PMID: 480027

Recent systematic reviews

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R
Int J Mol Sci 2023 May 11;24(10) doi: 10.3390/ijms24108632. PMID: 37239976Free PMC Article
Birthweight and isolated congenital heart defects - A systematic review and meta-analysis.
Aliasi M, Snoep MC, van Geloven N, Haak MC
BJOG 2022 Oct;129(11):1805-1816. Epub 2022 Apr 15 doi: 10.1111/1471-0528.17164. PMID: 35352871Free PMC Article
2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM, Crumb SR, Dearani JA, Fuller S, Gurvitz M, Khairy P, Landzberg MJ, Saidi A, Valente AM, Van Hare GF
Circulation 2019 Apr 2;139(14):e698-e800. doi: 10.1161/CIR.0000000000000603. PMID: 30586767
Congenital heart defects in IVF/ICSI pregnancy: systematic review and meta-analysis.
Giorgione V, Parazzini F, Fesslova V, Cipriani S, Candiani M, Inversetti A, Sigismondi C, Tiberio F, Cavoretto P
Ultrasound Obstet Gynecol 2018 Jan;51(1):33-42. doi: 10.1002/uog.18932. PMID: 29164811
Ondansetron Use in Pregnancy and Birth Defects: A Systematic Review.
Carstairs SD
Obstet Gynecol 2016 May;127(5):878-883. doi: 10.1097/AOG.0000000000001388. PMID: 27054939

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