Fetal Cardiology and genetics Feb 2019


  1. Exploration of the Notch3-HES5 signal pathway in monocrotaline-induced pulmonary hypertension using rat model.

Chen X, Zhou W, Hu Q, Huang L.

Congenit Heart Dis. 2019 Feb 27. doi: 10.1111/chd.12733. [Epub ahead of print]

PMID: 30811836

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  1. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.

PMID: 30712880 Free PMC Article

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  1. An integrated in utero MR method for assessing structural brain abnormalities and measuring intracranial volumes in fetuses with congenital heart disease: results of a prospective case-control feasibility study.

Griffiths PD, Mousa HA, Finney C, Mooney C, Mandefield L, Chico TJA, Jarvis D.

Neuroradiology. 2019 Feb 22. doi: 10.1007/s00234-019-02184-2. [Epub ahead of print]

PMID: 30796469

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  1. VGLL4 plays a critical role in heart valve development and homeostasis.

Yu W, Ma X, Xu J, Heumüller AW, Fei Z, Feng X, Wang X, Liu K, Li J, Cui G, Peng G, Ji H, Li J, Jing N, Song H, Lin Z, Zhao Y, Wang Z, Zhou B, Zhang L.

PLoS Genet. 2019 Feb 21;15(2):e1007977. doi: 10.1371/journal.pgen.1007977. eCollection 2019 Feb.

PMID: 30789911 Free Article

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  1. Gene-environment interaction impacts on heart development and embryo survival.

Moreau JLM, Kesteven S, Martin EMMA, Lau KS, Yam MX, O’Reilly VC, Del Monte-Nieto G, Baldini A, Feneley MP, Moon AM, Harvey RP, Sparrow DB, Chapman G, Dunwoodie SL.

Development. 2019 Feb 20;146(4). pii: dev172957. doi: 10.1242/dev.172957.

PMID: 30787001

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  1. The correlation of TGFβ1 gene polymorphisms with congenital heart disease susceptibility.

Shi Y, Zhang J, Xu W, Yi J, Li Y, Chen Y.

Gene. 2019 Feb 20;686:160-163. doi: 10.1016/j.gene.2018.10.034. Epub 2018 Oct 12.

PMID: 30321660

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  1. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu’Lock FA, O’Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD.

Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250.

PMID: 30582441

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  1. Dioxin and AHR impairs mesoderm gene expression and cardiac differentiation in human embryonic stem cells.

Fu H, Wang L, Wang J, Bennett BD, Li JL, Zhao B, Hu G.

Sci Total Environ. 2019 Feb 15;651(Pt 1):1038-1046. doi: 10.1016/j.scitotenv.2018.09.247. Epub 2018 Sep 20.

PMID: 30266049

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  1. Endocardially Derived Macrophages Are Essential for Valvular Remodeling.

Shigeta A, Huang V, Zuo J, Besada R, Nakashima Y, Lu Y, Ding Y, Pellegrini M, Kulkarni RP, Hsiai T, Deb A, Zhou B, Nakano H, Nakano A.

Dev Cell. 2019 Feb 14. pii: S1534-5807(19)30049-8. doi: 10.1016/j.devcel.2019.01.021. [Epub ahead of print]

PMID: 30799229

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  1. Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort.

Zhu MJ, Ma XY, Ding PC, Tang HF, Peng R, Lu L, Li PQ, Qiao B, Yang XY, Zheng YF, Wang HY, Gao YQ, Chen FS.

J Hum Genet. 2019 Feb 13. doi: 10.1038/s10038-019-0572-x. [Epub ahead of print]

PMID: 30760879

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  1. Using speckle tracking echocardiography to assess fetal myocardial deformation: are we there yet?

Day TG, Charakida M, Simpson JM.

Ultrasound Obstet Gynecol. 2019 Feb 10. doi: 10.1002/uog.20233. [Epub ahead of print]

PMID: 30740804

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  1. Identifying pathogenic variants in the Follistatin-like 1 gene (FSTL1) in patients with skeletal and atrioventricular valve disorders.

Prakash S, Mattiotti A, Sylva M, Mulder BJM, Postma AV, van den Hoff MJB.

Mol Genet Genomic Med. 2019 Feb 5:e567. doi: 10.1002/mgg3.567. [Epub ahead of print]

PMID: 30722102 Free Article

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  1. Prognosis of severe congenital heart diseases: Do we overestimate the impact of prenatal diagnosis?

Vincenti M, Guillaumont S, Clarivet B, Macioce V, Mura T, Boulot P, Cambonie G, Amedro P.

Arch Cardiovasc Dis. 2019 Feb 2. pii: S1875-2136(19)30020-8. doi: 10.1016/j.acvd.2018.11.013. [Epub ahead of print]

PMID: 30722979

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  1. Proteomic-based approaches to cardiac development and disease.

Dorr KM, Conlon FL.

Curr Opin Chem Biol. 2019 Feb;48:150-157. doi: 10.1016/j.cbpa.2019.01.001. Epub 2019 Jan 31. Review.

PMID: 30711722

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  1. Combinatorial Utilization of Murine Embryonic Stem Cells and In Vivo Models to Study Human Congenital Heart Disease.

Zakariyah A, Rajgara R, Shelton M, Blais A, Skerjanc IS, Burgon PG.

Curr Protoc Stem Cell Biol. 2019 Feb;48(1):e75. doi: 10.1002/cpsc.75. Epub 2018 Dec 12.

PMID: 30548532

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  1. pouC Regulates Expression of bmp4 During Atrioventricular Canal Formation in Zebrafish.

Bhakta M, Padanad MS, Harris JP, Lubczyk C, Amatruda JF, Munshi NV.

Dev Dyn. 2019 Feb;248(2):173-188. doi: 10.1002/dvdy.2. Epub 2018 Dec 10.

PMID: 30444277

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  1. Prenatal diagnosis of caudal regression with heterotaxy syndrome: “A mermaid with a broken heart”.

Zhang Y, Sun C, Jiang C, Zhao W, Wang W, Cao Q, Ge S.

Echocardiography. 2019 Feb;36(2):415-418. doi: 10.1111/echo.14250. Epub 2019 Jan 27.

PMID: 30685882

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  1. Akt3 is a target of miR-29c-3p and serves an important function in the pathogenesis of congenital heart disease.

Chen T, Li SJ, Chen B, Huang Q, Kong XY, Shen C, Gu HT, Wang XW.

Int J Mol Med. 2019 Feb;43(2):980-992. doi: 10.3892/ijmm.2018.4008. Epub 2018 Nov 30.

PMID: 30535467

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  1. Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.

Li Z, Huang J, Liang B, Zeng D, Luo S, Yan T, Liao F, Huang J, Li J, Cai R, Deng X, Tang N.

J Clin Lab Anal. 2019 Feb;33(2):e22660. doi: 10.1002/jcla.22660. Epub 2018 Sep 17.

PMID: 30221396

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  1. Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.

Xia Y, Huang S, Wu Y, Yang Y, Chen S, Li P, Zhuang J.

Mol Genet Genomic Med. 2019 Feb;7(2):e00517. doi: 10.1002/mgg3.517. Epub 2018 Dec 18.

PMID: 30565396 Free Article

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  1. A regulatory variant in TBX2 promoter is related to the decreased susceptibility of congenital heart disease in the Han Chinese population.

Zhang RR, Cai K, Liu L, Yang Q, Zhang P, Gui YH, Wang F.

Mol Genet Genomic Med. 2019 Feb;7(2):e00530. doi: 10.1002/mgg3.530. Epub 2018 Dec 7.

PMID: 30525309 Free Article

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  1. Evaluation of the post-LA space index in the normal fetus.

Kawazu Y, Inamura N, Kayatani F, Taniguchi T.

Prenat Diagn. 2019 Feb;39(3):195-199. doi: 10.1002/pd.5409. Epub 2019 Jan 10.

PMID: 30615216

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  1. Functional Morphology of the Cardiac Jelly in the Tubular Heart of Vertebrate Embryos.

Männer J, Männer TM.

J Cardiovasc Dev Dis. 2019 Feb 27;6(1). pii: E12. doi: 10.3390/jcdd6010012. Review.

PMID: 30818886 Free Article

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  1. Fetal and postnatal echocardiographic imaging of transposition of the great arteries with the aortic valve posterior to the pulmonary valve.

Castellanos DA, McKenzie ED, Morris SA.

Echocardiography. 2019 Feb 23. doi: 10.1111/echo.14292. [Epub ahead of print]

PMID: 30801777

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  1. Fetal iGRASP cine CMR assisting in prenatal diagnosis of complicated cardiac malformation with impact on delivery planning.

Bhat M, Haris K, Bidhult S, Liuba P, Aletras AH, Hedström E.

Clin Physiol Funct Imaging. 2019 Feb 20. doi: 10.1111/cpf.12566. [Epub ahead of print]

PMID: 30785656

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  1. A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.

Jackson CB, Huemer M, Bolognini R, Martin F, Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Suomalainen A, Schaller A.

Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374.

PMID: 30358850

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  1. In Utero Aortic Arch Thrombosis Masquerading as Interrupted Aortic Arch: A Case Report and Review of the Literature.

Knadler JJ, Zobeck M, Masand P, Sartain S, Kyle WB.

Pediatr Cardiol. 2019 Feb 8. doi: 10.1007/s00246-019-02068-5. [Epub ahead of print]

PMID: 30734851

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  1. Evaluation of septal insertion of atrioventricular valves in fetuses by postmortem 4.7 Tesla cardiac MRI: A feasibility study.

Blondiaux E, Autret G, Dhombres F, Gonzales M, Audureau E, Clément O, Jouannic JM, Houyel L.

Diagn Interv Imaging. 2019 Feb;100(2):109-116. doi: 10.1016/j.diii.2018.11.004. Epub 2018 Dec 7.

PMID: 30527913

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  1. Maturational patterns in right ventricular strain mechanics from the fetus to the young infant.

Erickson CT, Levy PT, Craft M, Li L, Danford DA, Kutty S.

Early Hum Dev. 2019 Feb;129:23-32. doi: 10.1016/j.earlhumdev.2018.12.015. Epub 2019 Jan 4.

PMID: 30616038

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  1. Prenatal diagnosis of congenital absence of aortic valve associated with restrictive foramen ovale: Hemodynamic features and clinical outcome.

Murakami T, Lin L, Ishiodori T, Takeuchi S, Shiono J, Horigome H.

J Clin Ultrasound. 2019 Feb;47(2):104-106. doi: 10.1002/jcu.22636. Epub 2018 Oct 14.

PMID: 30318622

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  1. Innovative 2-Step Management Strategy Utilizing EXIT Procedure for a Fetus With Hypoplastic Left Heart Syndrome and Intact Atrial Septum.

Said SM, Qureshi MY, Taggart NW, Anderson HN, O’Leary PW, Cetta F, Alrahmani L, Cofer SA, Segura LG, Pike RB, Sharpe EE, Derleth DP, Nemergut ME, Van Dorn CS, Gleich SJ, Rose CH, Collura CA, Ruano R.

Mayo Clin Proc. 2019 Feb;94(2):356-361. doi: 10.1016/j.mayocp.2018.08.004.

PMID: 30711131

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