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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
Diagnosis, management and therapeutic strategies for congenital long QT syndrome.
Wilde AAM, Amin AS, Postema PG
Heart 2022 Mar;108(5):332-338. Epub 2021 May 26 doi: 10.1136/heartjnl-2020-318259. PMID: 34039680Free PMC Article
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

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
Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.
Sadhwani A, Wypij D, Rofeberg V, Gholipour A, Mittleman M, Rohde J, Velasco-Annis C, Calderon J, Friedman KG, Tworetzky W, Grant PE, Soul JS, Warfield SK, Newburger JW, Ortinau CM, Rollins CK
Circulation 2022 Apr 12;145(15):1108-1119. Epub 2022 Feb 10 doi: 10.1161/CIRCULATIONAHA.121.056305. PMID: 35143287Free PMC Article
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
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

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
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
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

Frequency and Predictors of Acute and Persistent Femoral Artery Occlusion in Infants with Congenital Heart Disease: A Study Using Ultrasonography for Arterial Access and the Diagnosis of Arterial Occlusion.
Gokdemir M, Cindik N
Pediatr Cardiol 2023 Aug;44(6):1191-1200. Epub 2023 May 19 doi: 10.1007/s00246-023-03180-3. PMID: 37204488
Noninvasive imaging prior to percutaneous pulmonary valve implantation.
Boutsikou M, Tzifa A
Hellenic J Cardiol 2022 Sep-Oct;67:59-65. Epub 2022 Jul 19 doi: 10.1016/j.hjc.2022.06.004. PMID: 35863726
Protein-Losing Enteropathy Following Fontan Palliation.
Al Balushi A, Mackie AS
Can J Cardiol 2019 Dec;35(12):1857-1860. Epub 2019 Jul 26 doi: 10.1016/j.cjca.2019.07.625. PMID: 31711823
Perioperative and Anesthetic Management of Coarctation of the Aorta.
Fox EB, Latham GJ, Ross FJ, Joffe D
Semin Cardiothorac Vasc Anesth 2019 Jun;23(2):212-224. Epub 2019 Jan 7 doi: 10.1177/1089253218821953. PMID: 30614372
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

Prognosis

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
Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.
Sadhwani A, Wypij D, Rofeberg V, Gholipour A, Mittleman M, Rohde J, Velasco-Annis C, Calderon J, Friedman KG, Tworetzky W, Grant PE, Soul JS, Warfield SK, Newburger JW, Ortinau CM, Rollins CK
Circulation 2022 Apr 12;145(15):1108-1119. Epub 2022 Feb 10 doi: 10.1161/CIRCULATIONAHA.121.056305. PMID: 35143287Free PMC Article
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
Cardiopulmonary Exercise Testing in Adult Congenital Heart Disease.
Mantegazza V, Apostolo A, Hager A
Ann Am Thorac Soc 2017 Jul;14(Supplement_1):S93-S101. doi: 10.1513/AnnalsATS.201611-876FR. PMID: 28375677
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

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
Fetal Brain Volume Predicts Neurodevelopment in Congenital Heart Disease.
Sadhwani A, Wypij D, Rofeberg V, Gholipour A, Mittleman M, Rohde J, Velasco-Annis C, Calderon J, Friedman KG, Tworetzky W, Grant PE, Soul JS, Warfield SK, Newburger JW, Ortinau CM, Rollins CK
Circulation 2022 Apr 12;145(15):1108-1119. Epub 2022 Feb 10 doi: 10.1161/CIRCULATIONAHA.121.056305. PMID: 35143287Free PMC Article
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
Prediction Models and Scores in Adult Congenital Heart Disease.
Arvanitaki A, Ntiloudi D, Giannakoulas G, Dimopoulos K
Curr Pharm Des 2021;27(10):1232-1244. doi: 10.2174/1381612827999210111181554. PMID: 33430742
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
Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT
Cochrane Database Syst Rev 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. PMID: 36373961Free 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
A systematic review of prenatal screening for congenital heart disease by fetal electrocardiography.
Verdurmen KM, Eijsvoogel NB, Lempersz C, Vullings R, Schroer C, van Laar JO, Oei SG
Int J Gynaecol Obstet 2016 Nov;135(2):129-134. Epub 2016 Aug 4 doi: 10.1016/j.ijgo.2016.05.010. PMID: 27634052

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