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Congenital heart disease (variable)

MedGen UID:
811656
•Concept ID:
C3805326
•
Finding

Professional guidelines

PubMed

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497Free PMC Article
Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.
Kohut TJ, Gilbert MA, Loomes KM
Semin Liver Dis 2021 Nov;41(4):525-537. Epub 2021 Jul 2 doi: 10.1055/s-0041-1730951. PMID: 34215014
Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA
Pediatrics 2010 Oct;126(4):746-59. Epub 2010 Sep 27 doi: 10.1542/peds.2009-3207. PMID: 20876176

Recent clinical studies

Etiology

Incidence and predictors of epilepsy in children with congenital heart disease.
Castillo-Pinto C, Carpenter JL, Donofrio MT, Zhang A, Wernovsky G, Sinha P, Harrar D
Cardiol Young 2022 Jun;32(6):918-924. Epub 2021 Aug 9 doi: 10.1017/S1047951121003279. PMID: 34365987
Enteral Nutrition in Term Infants with Congenital Heart Disease: Knowledge Gaps and Future Directions to Improve Clinical Practice.
Martini S, Beghetti I, Annunziata M, Aceti A, Galletti S, Ragni L, Donti A, Corvaglia L
Nutrients 2021 Mar 13;13(3) doi: 10.3390/nu13030932. PMID: 33805775Free PMC Article
Congenital heart disease in low-and-middle-income countries: Focus on sub-Saharan Africa.
Zimmerman M, Sable C
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):36-46. Epub 2020 Feb 6 doi: 10.1002/ajmg.c.31769. PMID: 32026623
Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.
Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, de Walle HEK, Gatt M, Groisman B, Liu S, Nembhard WN, Pierini A, Rissmann A, Chidambarathanu S, Sipek A Jr, Szabova E, Tagliabue G, Tucker D, Mastroiacovo P, Botto LD
BMJ Open 2019 Jul 2;9(7):e028139. doi: 10.1136/bmjopen-2018-028139. PMID: 31270117Free PMC Article
Bradyarrhythmias in Congenital Heart Disease.
Carlson SK, Patel AR, Chang PM
Card Electrophysiol Clin 2017 Jun;9(2):177-187. Epub 2017 Mar 22 doi: 10.1016/j.ccep.2017.02.002. PMID: 28457234

Diagnosis

Surgical Considerations in Shone Complex.
Yang R, Greene CL
Semin Cardiothorac Vasc Anesth 2023 Dec;27(4):260-272. Epub 2023 Sep 26 doi: 10.1177/10892532231203372. PMID: 37750051
Patent foramen ovale and atrial septal defect.
Kheiwa A, Hari P, Madabhushi P, Varadarajan P
Echocardiography 2020 Dec;37(12):2172-2184. doi: 10.1111/echo.14646. PMID: 33368546
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Pulmonary Hypertension in Children.
Ivy D
Cardiol Clin 2016 Aug;34(3):451-72. doi: 10.1016/j.ccl.2016.04.005. PMID: 27443141Free PMC Article
The incidence of congenital heart disease.
Hoffman JI, Kaplan S
J Am Coll Cardiol 2002 Jun 19;39(12):1890-900. doi: 10.1016/s0735-1097(02)01886-7. PMID: 12084585

Therapy

Serum Angiopoetin-2 Levels in Pediatric Patients After Fontan Operation.
Ibuki K, Imamura T, Nakaoka H, Takarada S, Okabe M, Ozawa S, Kinugawa K, Hirono K
Am J Cardiol 2023 Sep 15;203:23-28. Epub 2023 Jul 21 doi: 10.1016/j.amjcard.2023.06.112. PMID: 37481808
Triiodothyronine Supplementation in Infants Undergoing Cardiopulmonary Bypass: A Randomized Controlled Trial.
Portman MA, Slee AE, Roth SJ, Radman M, Olson AK, Mainwaring RD, Kamerkar A, Nuri M, Hastings L; TRICC Investigators
Semin Thorac Cardiovasc Surg 2023 Spring;35(1):105-112. Epub 2022 Jan 31 doi: 10.1053/j.semtcvs.2022.01.005. PMID: 35093535
Pulse oximetry screening for critical congenital heart defects.
Plana MN, Zamora J, Suresh G, Fernandez-Pineda L, Thangaratinam S, Ewer AK
Cochrane Database Syst Rev 2018 Mar 1;3(3):CD011912. doi: 10.1002/14651858.CD011912.pub2. PMID: 29494750Free 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
Effect of Fontan geometry on exercise haemodynamics and its potential implications.
Tang E, Wei ZA, Whitehead KK, Khiabani RH, Restrepo M, Mirabella L, Bethel J, Paridon SM, Marino BS, Fogel MA, Yoganathan AP
Heart 2017 Nov;103(22):1806-1812. Epub 2017 May 18 doi: 10.1136/heartjnl-2016-310855. PMID: 28522658

Prognosis

Incidence and predictors of epilepsy in children with congenital heart disease.
Castillo-Pinto C, Carpenter JL, Donofrio MT, Zhang A, Wernovsky G, Sinha P, Harrar D
Cardiol Young 2022 Jun;32(6):918-924. Epub 2021 Aug 9 doi: 10.1017/S1047951121003279. PMID: 34365987
Placement of Labcor Pulmonary Conduit Results in a High Incidence of Postoperative Fever.
Shaker R, Arabi M, Khafaja S, Fayad D, Casals AA, Lteif M, Shamseddine S, Taqa MA, Charafeddine F, Rassi IE, Al-Halees Z, Bitar F, Hanna-Wakim R, Dbaibo G
World J Pediatr Congenit Heart Surg 2021 Jan;12(1):55-60. doi: 10.1177/2150135120956995. PMID: 33407033
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article
Reoperation after isolated subaortic membrane resection.
Binsalamah ZM, Spigel ZA, Zhu H, Kim MB, Chacon-Portillo MA, Adachi I, Imamura M, Mery CM, Mckenzie ED, Fraser CD, Heinle JS
Cardiol Young 2019 Nov;29(11):1391-1396. Epub 2019 Sep 26 doi: 10.1017/S1047951119002336. PMID: 31554530
The incidence of congenital heart disease.
Hoffman JI, Kaplan S
J Am Coll Cardiol 2002 Jun 19;39(12):1890-900. doi: 10.1016/s0735-1097(02)01886-7. PMID: 12084585

Clinical prediction guides

Frailty and Cognitive Function in Middle-Aged and Older Adults With Congenital Heart Disease.
Daelman B, Van Bulck L, Luyckx K, Kovacs AH, Van De Bruaene A, Ladouceur M, Yang HL, Moon JR, Schmidt A, Lykkeberg B, Callus E, de Hosson M, Sandberg C, Johansson B, Hlebowicz J, Areias ME, Amedro P, Coats L, Mandalenakis Z, Kaneva A, Moons P, Goossens E; APPROACH-IS II consortium; International Society for Adult Congenital Heart Disease
J Am Coll Cardiol 2024 Mar 26;83(12):1149-1159. doi: 10.1016/j.jacc.2024.01.021. PMID: 38508848
Insights into the genetic architecture of congenital heart disease from animal modeling.
Zhu W, Lo CW
Zool Res 2023 May 18;44(3):577-590. doi: 10.24272/j.issn.2095-8137.2022.463. PMID: 37147909Free PMC Article
Precision Medicine in Pediatric Cardiology.
Kikano S, Kannankeril PJ
Pediatr Ann 2022 Oct;51(10):e390-e395. Epub 2022 Oct 1 doi: 10.3928/19382359-20220803-05. PMID: 36215086
Enteral Nutrition in Term Infants with Congenital Heart Disease: Knowledge Gaps and Future Directions to Improve Clinical Practice.
Martini S, Beghetti I, Annunziata M, Aceti A, Galletti S, Ragni L, Donti A, Corvaglia L
Nutrients 2021 Mar 13;13(3) doi: 10.3390/nu13030932. PMID: 33805775Free PMC Article
Other genomic disorders and congenital heart disease.
Lalani SR
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):107-115. Epub 2020 Jan 7 doi: 10.1002/ajmg.c.31762. PMID: 31909881

Recent systematic reviews

Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Patti G, Scaglione M, Maiorano NG, Rosti G, Divizia MT, Camia T, De Rose EL, Zucconi A, Casalini E, Napoli F, Di Iorgi N, Maghnie M
Front Endocrinol (Lausanne) 2023;14:1213098. Epub 2023 Jul 28 doi: 10.3389/fendo.2023.1213098. PMID: 37576960Free PMC Article
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Pulse oximetry screening for critical congenital heart defects.
Plana MN, Zamora J, Suresh G, Fernandez-Pineda L, Thangaratinam S, Ewer AK
Cochrane Database Syst Rev 2018 Mar 1;3(3):CD011912. doi: 10.1002/14651858.CD011912.pub2. PMID: 29494750Free PMC Article
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Treatment Strategies for Paradoxical Hypertension Following Surgical Correction of Coarctation of the Aorta in Children.
Roeleveld PP, Zwijsen EG
World J Pediatr Congenit Heart Surg 2017 May;8(3):321-331. doi: 10.1177/2150135117690104. PMID: 28520538Free PMC Article

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