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Other Genetic Syndrome Associated with Congenital Heart Defect

MedGen UID:
1708592
•Concept ID:
C5238831
•
Finding

Definition

An indication that the patient has a history of a genetic syndrome associated with a congenital heart defect other than those listed. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOther Genetic Syndrome Associated with Congenital Heart Defect

Professional guidelines

PubMed

2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Isselbacher EM, Preventza O, Hamilton Black J 3rd, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A Jr, Fanola CL, Girardi LN, Hicks CW, Hui DS, Schuyler Jones W, Kalahasti V, Kim KM, Milewicz DM, Oderich GS, Ogbechie L, Promes SB, Gyang Ross E, Schermerhorn ML, Singleton Times S, Tseng EE, Wang GJ, Woo YJ; Peer Review Committee Members
Circulation 2022 Dec 13;146(24):e334-e482. Epub 2022 Nov 2 doi: 10.1161/CIR.0000000000001106. PMID: 36322642Free 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
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

Recent clinical studies

Etiology

Targeting Melanoma-Associated Fibroblasts (MAFs) with Activated γδ (Vδ2) T Cells: An In Vitro Cytotoxicity Model.
Hajdara A, Çakır U, Érsek B, Silló P, Széky B, Barna G, Faqi S, Gyöngy M, Kárpáti S, Németh K, Mayer B
Int J Mol Sci 2023 Aug 17;24(16) doi: 10.3390/ijms241612893. PMID: 37629075Free PMC Article
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Left ventricular non-compaction cardiomyopathy.
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865

Diagnosis

Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.
Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, Pignatelli RH, Ricci F, Anderson RH, Bluemke DA
JACC Cardiovasc Imaging 2023 Mar;16(3):408-425. Epub 2023 Feb 8 doi: 10.1016/j.jcmg.2022.12.026. PMID: 36764891Free PMC Article
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
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
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Therapy

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.
Pandya P, Levy B, Sistermans EA
Prenat Diagn 2024 Apr;44(4):381-388. Epub 2023 Dec 4 doi: 10.1002/pd.6477. PMID: 38047733
Congenital Long QT Syndrome.
Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC
JACC Clin Electrophysiol 2022 May;8(5):687-706. doi: 10.1016/j.jacep.2022.02.017. PMID: 35589186
A heart within a heart.
Carreras ET, Barghash M, Givertz MM, Bhatt DL
Catheter Cardiovasc Interv 2017 Jun 1;89(7):1239-1241. Epub 2017 Mar 14 doi: 10.1002/ccd.26971. PMID: 28296050Free PMC Article
Left ventricular non-compaction cardiomyopathy.
Towbin JA, Lorts A, Jefferies JL
Lancet 2015 Aug 22;386(9995):813-25. Epub 2015 Apr 9 doi: 10.1016/S0140-6736(14)61282-4. PMID: 25865865
Laparoscopy.
Gomel V
Can Med Assoc J 1974 Jul 20;111(2):167-9. PMID: 4276392Free PMC Article

Prognosis

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.
Pandya P, Levy B, Sistermans EA
Prenat Diagn 2024 Apr;44(4):381-388. Epub 2023 Dec 4 doi: 10.1002/pd.6477. PMID: 38047733
Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.
Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, Pignatelli RH, Ricci F, Anderson RH, Bluemke DA
JACC Cardiovasc Imaging 2023 Mar;16(3):408-425. Epub 2023 Feb 8 doi: 10.1016/j.jcmg.2022.12.026. PMID: 36764891Free 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
A heart within a heart.
Carreras ET, Barghash M, Givertz MM, Bhatt DL
Catheter Cardiovasc Interv 2017 Jun 1;89(7):1239-1241. Epub 2017 Mar 14 doi: 10.1002/ccd.26971. PMID: 28296050Free PMC Article
VACTERL/VATER Association.
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. PMID: 21846383Free PMC Article

Clinical prediction guides

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.
Pandya P, Levy B, Sistermans EA
Prenat Diagn 2024 Apr;44(4):381-388. Epub 2023 Dec 4 doi: 10.1002/pd.6477. PMID: 38047733
Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.
Petersen SE, Jensen B, Aung N, Friedrich MG, McMahon CJ, Mohiddin SA, Pignatelli RH, Ricci F, Anderson RH, Bluemke DA
JACC Cardiovasc Imaging 2023 Mar;16(3):408-425. Epub 2023 Feb 8 doi: 10.1016/j.jcmg.2022.12.026. PMID: 36764891Free PMC Article
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Dilated cardiomyopathy: the complexity of a diverse genetic architecture.
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Recent systematic reviews

Emanuel syndrome and congenital diaphragmatic hernia: A systematic review.
Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DJ, Hollinger LE
J Pediatr Surg 2022 Sep;57(9):24-28. Epub 2021 Nov 20 doi: 10.1016/j.jpedsurg.2021.11.005. PMID: 34865829
Tremor and Parkinsonism in Chromosomopathies - A Systematic Review.
Carvalho V, Ferreira JJ, Correia Guedes L
Mov Disord 2021 Sep;36(9):2017-2025. Epub 2021 May 31 doi: 10.1002/mds.28663. PMID: 34056754
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Systematic review of chronic pain in persons with Marfan syndrome.
Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AØ
Clin Genet 2016 Jun;89(6):647-58. Epub 2016 Jan 25 doi: 10.1111/cge.12699. PMID: 26607862

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