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Fetal Cardiology January 2020 Abstracts

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Abstract
  1. Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.

Wei W, Li B, Li F, Sun K, Jiang X, Xu R.

Clin Genet. 2020 Jan 31. doi: 10.1111/cge.13710. [Epub ahead of print]

PMID: 32003456

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  1. Autopsy and postnatal follow-up of prenatally diagnosed ventricular outpouchings.

Zheng M, Sun L, Liu X, Wang X, He Y.

Prenat Diagn. 2020 Jan 28. doi: 10.1002/pd.5646. [Epub ahead of print]

PMID: 31990991

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  1. MicroRNA-144 Regulates Cardiomyocyte Proliferation and Apoptosis by Targeting TBX1 through the JAK2/STAT1 Pathway.

Cao ML, Zhu BL, Sun YY, Qiu GR, Fu WN, Jiang HK.

Cytogenet Genome Res. 2020 Jan 24. doi: 10.1159/000505143. [Epub ahead of print]

PMID: 31982878

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  1. A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome.

Permanyer E, Laurie S, Blasco-Lucas A, Maldonado G, Amador-Catalan A, Ferrer-Curriu G, Fuste B, Perez ML, Gonzalez-Alujas T, Beltran S, Comas-Riu J, Bardají A, Evangelista A, Galiñanes M.

Eur J Med Genet. 2020 Jan 23:103854. doi: 10.1016/j.ejmg.2020.103854. [Epub ahead of print]

PMID: 31981616

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  1. An analysis of 109 fetuses with prenatal diagnosis of complete agenesis of corpus callosum.

Bayram AK, Kütük MS, Doganay S, Özgün MT, Gümüş H, Başbuğ M, Kumandaş S, Canpolat M, Per H.

Neurol Sci. 2020 Jan 22. doi: 10.1007/s10072-019-04224-4. [Epub ahead of print]

PMID: 31970575

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  1. Correction: MIB1 mutations reduce notch signaling activation and contribute to congenital heart disease.
[No authors listed]

Clin Sci (Lond). 2020 Jan 17;134(1):1. doi: 10.1042/CS-20180732_COR. No abstract available.

PMID: 31894840

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  1. Detection of fetal cardiac anomalies: is increasing the number of cardiac views cost-effective?

Bak GS, Shaffer BL, Madriago E, Allen A, Kelly B, Caughey AB, Pereira L.

Ultrasound Obstet Gynecol. 2020 Jan 16. doi: 10.1002/uog.21977. [Epub ahead of print]

PMID: 31945242

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  1. De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Sevim Bayrak C, Zhang P, Tristani-Firouzi M, Gelb BD, Itan Y.

Genome Med. 2020 Jan 15;12(1):9. doi: 10.1186/s13073-019-0709-8.

PMID: 31941532 Free PMC Article

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  1. Association of Maternal Psychological Distress With In Utero Brain Development in Fetuses With Congenital Heart Disease.

Wu Y, Kapse K, Jacobs M, Niforatos-Andescavage N, Donofrio MT, Krishnan A, Vezina G, Wessel D, du Plessis A, Limperopoulos C.

JAMA Pediatr. 2020 Jan 13:e195316. doi: 10.1001/jamapediatrics.2019.5316. [Epub ahead of print]

PMID: 31930365

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  1. Comprehensive Functional Echocardiographic Assessment of Transposition of the Great Arteries: From Fetus to Newborn.

Walter C, Soveral I, Bartrons J, Escobar MC, Carretero JM, Quirado L, Gómez O, Sánchez-de-Toledo J.

Pediatr Cardiol. 2020 Jan 10. doi: 10.1007/s00246-019-02279-w. [Epub ahead of print]

PMID: 31919591

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  1. Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL.

Am J Hum Genet. 2020 Jan 2;106(1):129-136. doi: 10.1016/j.ajhg.2019.12.006. Epub 2019 Dec 26.

PMID: 31883644

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  1. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, Pontillo M, Armando M, Di Fabio F, Vicari S, van den Bree M, Moss H, Owen MJ, Murphy KC, Murphy CM, Murphy D, Schoch K, Shashi V, Tassone F, Simon TJ, Shprintzen RJ, Campbell L, Philip N, Heine-Suñer D, García-Miñaúr S, Fernández L; International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vingerhoets C, van Amelsvoort T, Eliez S, Schneider M, Vorstman JAS, Gothelf D, Zackai E, Agopian AJ, Gur RE, Bassett AS, Emanuel BS, Goldmuntz E, Mitchell LE, Wang T, Morrow BE.

Am J Hum Genet. 2020 Jan 2;106(1):26-40. doi: 10.1016/j.ajhg.2019.11.010. Epub 2019 Dec 20.

PMID: 31870554

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  1. Homeobox Genes and Homeodomain Proteins: New Insights into Cardiac Development, Degeneration and Regeneration.

Miksiunas R, Mobasheri A, Bironaite D.

Adv Exp Med Biol. 2020;1212:155-178. doi: 10.1007/5584_2019_349. Review.

PMID: 30945165

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  1. From embryogenesis to adulthood: Critical role for GATA factors in heart development and function.

Whitcomb J, Gharibeh L, Nemer M.

IUBMB Life. 2020 Jan;72(1):53-67. doi: 10.1002/iub.2163. Epub 2019 Sep 13. Review.

PMID: 31520462

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  1. Chromosomal microarray analysis for the detection of chromosome abnormalities in fetuses with echogenic intracardiac focus in women without high-risk factors.

He M, Zhang Z, Hu T, Liu S.

Medicine (Baltimore). 2020 Jan;99(5):e19014. doi: 10.1097/MD.0000000000019014.

PMID: 32000445 Free Article

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  1. Correlations between ISL1 rs1017 polymorphism and congenital heart disease risk: A PRISMA-compliant meta-analysis.

Ding Z, Yang W, Yi K, Ding Y, Zhou D, Xie X, You T.

Medicine (Baltimore). 2020 Jan;99(2):e18715. doi: 10.1097/MD.0000000000018715.

PMID: 31914083 Free PMC Article

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  1. New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia.

Dasouki MJ, Wakil SM, Al-Harazi O, Alkorashy M, Muiya NP, Andres E, Hagos S, Aldusery H, Dzimiri N, Colak D.

OMICS. 2020 Jan;24(1):16-28. doi: 10.1089/omi.2019.0165. Epub 2019 Dec 19.

PMID: 31855513

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  1. Genetic Contribution to Congenital Heart Disease (CHD).

Shabana NA, Shahid SU, Irfan U.

Pediatr Cardiol. 2020 Jan;41(1):12-23. doi: 10.1007/s00246-019-02271-4. Epub 2019 Dec 23. Review.

PMID: 31872283

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  1. In fetuses with congenital lung masses, decreased ventricular and atrioventricular valve dimensions are associated with lesion size and clinical outcome.

Mardy C, Blumenfeld YJ, Arunamata AA, Girsen AI, Sylvester KG, Halabi S, Rubesova E, Hintz SR, Tacy TA, Maskatia SA.

Prenat Diagn. 2020 Jan;40(2):206-215. doi: 10.1002/pd.5612. Epub 2019 Dec 1.

PMID: 31742724

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  1. Improving fetal congenital heart disease screening using a checklist-based approach.

Janicki MB, Fernandez CG, Wakefield D, Shepherd JP, Figueroa R.

Prenat Diagn. 2020 Jan;40(2):223-231. doi: 10.1002/pd.5581. Epub 2019 Dec 9.

PMID: 31652332

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  1. Hemodynamic Responses of the Placenta and Brain to Maternal Hyperoxia in Fetuses with Congenital Heart Disease by Using Blood Oxygen-Level Dependent MRI.

You W, Andescavage NN, Kapse K, Donofrio MT, Jacobs M, Limperopoulos C.

Radiology. 2020 Jan;294(1):141-148. doi: 10.1148/radiol.2019190751. Epub 2019 Nov 5.

PMID: 31687920

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  1. [Ebstein’s anomaly : from fetal diagnosis to surgical treatment].

Madani S, Van Linthout C, Rondia G, Seghaye MC.

Rev Med Liege. 2020 Jan;75(1):43-48. French.

PMID: 31920043

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  1. Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.

Inácio JM, Almeida M, Cristo F, Belo JA.

Stem Cell Res. 2020 Jan;42:101677. doi: 10.1016/j.scr.2019.101677. Epub 2019 Dec 20.

PMID: 31869685 Free Article

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  1. Identification of FOXH1 mutations in patients with sporadic conotruncal heart defect.

Wei W, Li B, Li F, Sun K, Jiang X, Xu R.

Clin Genet. 2020 Jan 31. doi: 10.1111/cge.13710. [Epub ahead of print]

PMID: 32003456

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Select item 32004080

 

  1. Essential role of the ELABELA-APJ signaling pathway in cardiovascular system development and diseases.

Zhou S, Wang J, Wang Q, Meng Z, Peng J, Song W, Zhou Y.

J Cardiovasc Pharmacol. 2020 Jan 29. doi: 10.1097/FJC.0000000000000803. [Epub ahead of print]

PMID: 32000202

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  1. Abstracts From 10th Annual Phoenix Fetal Cardiology Symposium November 7-11, 2019 Phoenix, Arizona.
[No authors listed]

Pediatr Cardiol. 2020 Jan 17. doi: 10.1007/s00246-019-02261-6. [Epub ahead of print] No abstract available.

PMID: 31953570

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Select item 31951681

 

  1. Detection of fetal cardiac anomalies: is increasing the number of cardiac views cost-effective?

Bak GS, Shaffer BL, Madriago E, Allen A, Kelly B, Caughey AB, Pereira L.

Ultrasound Obstet Gynecol. 2020 Jan 16. doi: 10.1002/uog.21977. [Epub ahead of print]

PMID: 31945242

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Select item 31734412

 

  1. Automatic detection of complete and measurable cardiac cycles in antenatal pulsed-wave Doppler signals.

Sulas E, Urru M, Tumbarello R, Raffo L, Pani D.

Comput Methods Programs Biomed. 2020 Jan 15;190:105336. doi: 10.1016/j.cmpb.2020.105336. [Epub ahead of print]

PMID: 32007836 Free Article

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  1. Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome.

Raucher Sternfeld A, Sheffy A, Tamir A, Mizrachi Y, Assa S, Shohat M, Berger R, Lev D, Gindes L.

J Matern Fetal Neonatal Med. 2020 Jan 12:1-5. doi: 10.1080/14767058.2020.1712710. [Epub ahead of print]

PMID: 31928261

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  1. Comprehensive Functional Echocardiographic Assessment of Transposition of the Great Arteries: From Fetus to Newborn.

Walter C, Soveral I, Bartrons J, Escobar MC, Carretero JM, Quirado L, Gómez O, Sánchez-de-Toledo J.

Pediatr Cardiol. 2020 Jan 10. doi: 10.1007/s00246-019-02279-w. [Epub ahead of print]

PMID: 31919591

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  1. Early cardiac remodeling in aortic coarctation: insights from fetal and neonatal functional and structural assessment.

Soveral I, Crispi F, Walter C, Guirado L, García-Cañadilla P, Cook A, Bonnin A, Dejea H, Rovira-Zurriaga C, Sánchez de Toledo J, Gratacós E, Martínez JM, Bijnens B, Gómez O.

Ultrasound Obstet Gynecol. 2020 Jan 7. doi: 10.1002/uog.21970. [Epub ahead of print]

PMID: 31909552

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  1. Complete Fetal Atrioventricular Block Associated with Maternal Autoinflammatory Diseases: Case Report and Literature Review.

Tugcu AU, Ince DA, Esin S, Turan O, Erdogan I, Ecevit A.

Acta Cardiol Sin. 2020 Jan;36(1):72-75. doi: 10.6515/ACS.202001_36(1).20190711A. No abstract available.

PMID: 31903011 Free PMC Article

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  1. X-chromosome association studies of congenital heart defects.

Agopian AJ, Hoang TT, Goldmuntz E, Hakonarson H, Musfee FI, Mitchell LE; Pediatric Cardiac Genomics Consortium.

Am J Med Genet A. 2020 Jan;182(1):250-254. doi: 10.1002/ajmg.a.61411. Epub 2019 Nov 15. No abstract available.

PMID: 31729158

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  1. Coronary Intimal Thickening Begins in Fetuses and Progresses in Pediatric Population and Adolescents to Atherosclerosis.

Guerri-Guttenberg R, Castilla R, Cao G, Azzato F, Ambrosio G, Milei J.

Angiology. 2020 Jan;71(1):62-69. doi: 10.1177/0003319719849784. Epub 2019 May 14.

PMID: 31088126

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  1. Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects.

Lahiri S, Gil W, Daria S, Joshua G, Parul J, Redmond B, Elizabeth W.

Ann Pediatr Cardiol. 2020 Jan-Mar;13(1):38-45. doi: 10.4103/apc.APC_51_19. Epub 2019 Oct 9.

PMID: 32030034 Free PMC Article

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  1. Evolution of strain and strain rate values throughout gestation in healthy fetuses.

Clavero Adell M, Ayerza Casas A, Jiménez Montañés L, Palanca Arias D, López Ramón M, Alcalá Nalvaiz JT, Samper Villagrasa P.

Int J Cardiovasc Imaging. 2020 Jan;36(1):59-66. doi: 10.1007/s10554-019-01695-6. Epub 2019 Oct 29.

PMID: 31664680

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  1. Modified myocardial performance index and its prognostic significance for adverse perinatal outcome in early and late onset fetal growth restriction.

Alici Davutoglu E, Ozel A, Oztunc F, Madazli R.

J Matern Fetal Neonatal Med. 2020 Jan;33(2):277-282. doi: 10.1080/14767058.2018.1489534. Epub 2018 Jul 22.

PMID: 30033784

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  1. Current and future role of fetal cardiovascular MRI in the setting of fetal cardiac interventions.

Marini D, Xu J, Sun L, Jaeggi E, Seed M.

Prenat Diagn. 2020 Jan;40(1):71-83. doi: 10.1002/pd.5626. Epub 2019 Dec 19.

PMID: 31834624

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