Fetal cardiology and genetics April 2019

Categories:

  1. Modulation of ADAR mRNA expression in patients with congenital heart defects.

Altaf F, Vesely C, Sheikh AM, Munir R, Shah STA, Tariq A.

PLoS One. 2019 Apr 30;14(4):e0200968. doi: 10.1371/journal.pone.0200968. eCollection 2019.

PMID: 31039163 Free Article

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  1. DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.

Liu S, Chen W, Zhan Y, Li S, Ma X, Ma D, Sheng W, Huang G.

Sci Rep. 2019 Apr 30;9(1):6683. doi: 10.1038/s41598-019-43109-6.

PMID: 31040315

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  1. Head Biometry in Fetuses with Isolated Congenital Heart Disease.

Graupner O, Koch J, Enzensberger C, Götte M, Wolter A, Müller V, Kawecki A, Herrmann J, Axt-Fliedner R.

Ultraschall Med. 2019 Apr 25. doi: 10.1055/a-0893-7484. [Epub ahead of print] No abstract available.

PMID: 31022734

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  1. Intronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese Population.

Wang E, Nie Y, Fan X, Zheng Z, Hu S.

DNA Cell Biol. 2019 Apr 23. doi: 10.1089/dna.2018.4254. [Epub ahead of print]

PMID: 31013439

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  1. Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.

Le Fevre A, Baptista J, Ellard S, Overton T, Oliver A, Gradhand E, Scurr I.

Eur J Med Genet. 2019 Apr 23. pii: S1769-7212(18)30904-2. doi: 10.1016/j.ejmg.2019.04.014. [Epub ahead of print]

PMID: 31026592

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  1. Three-dimensional visualisation of the fetal heart using prenatal MRI with motion-corrected slice-volume registration: a prospective, single-centre cohort study.

Lloyd DFA, Pushparajah K, Simpson JM, van Amerom JFP, van Poppel MPM, Schulz A, Kainz B, Deprez M, Lohezic M, Allsop J, Mathur S, Bellsham-Revell H, Vigneswaran T, Charakida M, Miller O, Zidere V, Sharland G, Rutherford M, Hajnal JV, Razavi R.

Lancet. 2019 Apr 20;393(10181):1619-1627. doi: 10.1016/S0140-6736(18)32490-5. Epub 2019 Mar 22.

PMID: 30910324 Free Article

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  1. The Accuracy and Cost-Effectiveness of Selective Fetal Echocardiography for the Diagnosis of Congenital Heart Disease in Patients with Pregestational Diabetes Stratified by Hemoglobin A1c.

Finneran MM, Ware CA, Kiefer MK, Buschur EO, Foy PM, Thung SF, Landon MB, Gabbe SG.

Am J Perinatol. 2019 Apr 16. doi: 10.1055/s-0039-1685490. [Epub ahead of print]

PMID: 30991442

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  1. Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis.

Schwenty-Lara J, Nürnberger A, Borchers A.

Dev Dyn. 2019 Apr 13. doi: 10.1002/dvdy.39. [Epub ahead of print]

PMID: 30980591

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  1. Response to the letter about the article “Prognosis of severe congenital heart diseases: Do we overestimate the impact of prenatal diagnosis?”

Amedro P, Vincenti M.

Arch Cardiovasc Dis. 2019 Apr 11. pii: S1875-2136(19)30073-7. doi: 10.1016/j.acvd.2019.04.001. [Epub ahead of print] No abstract available.

PMID: 30982719

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  1. Letter in response to the article entitled “Prognosis of severe congenital heart diseases: Do we overestimate the impact of prenatal diagnosis?” by Vincenti et al.

Séguéla PE, Thomas J, Thambo JB.

Arch Cardiovasc Dis. 2019 Apr 9. pii: S1875-2136(19)30071-3. doi: 10.1016/j.acvd.2019.03.002. [Epub ahead of print] No abstract available.

PMID: 30979689

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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. 2019 Apr 4. doi: 10.1007/5584_2019_349. [Epub ahead of print]

PMID: 30945165

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  1. Role of lncRNA uc.457 in the differentiation and maturation of cardiomyocytes.

Zhang Q, Cheng Z, Yu Z, Zhu C, Qian L.

Mol Med Rep. 2019 Apr 4. doi: 10.3892/mmr.2019.10132. [Epub ahead of print]

PMID: 30957182

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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 Apr;112(4):261-269. doi: 10.1016/j.acvd.2018.11.013. Epub 2019 Feb 2.

PMID: 30722979

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  1. The Role of Non-Coding RNA in Congenital Heart Diseases.

Dueñas A, Expósito A, Aranega A, Franco D.

J Cardiovasc Dev Dis. 2019 Apr 1;6(2). pii: E15. doi: 10.3390/jcdd6020015. Review.

PMID: 30939839 Free Article

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  1. Ankyrin repeat domain 1: A novel gene for cardiac septal defects.

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

J Gene Med. 2019 Apr;21(4):e3070. doi: 10.1002/jgm.3070. Epub 2019 Feb 19. Review.

PMID: 30659708

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  1. Persistent truncus arteriosus with absent semilunar valve in first trimester.

Yang SH, Li XQ, Yang ZJ, Tian XX, Wei HW.

J Med Ultrason (2001). 2019 Apr;46(2):273-275. doi: 10.1007/s10396-018-00926-y. Epub 2019 Jan 14.

PMID: 30637595

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  1. Rationale and Design of the FREQUENCY Study: The Fetal Cardiac Registry of Québec to Improve Resource Utilization in Fetal Cardiology.

Noël C, Gagnon MH, Cardinal MP, Guertin O, Déry A, Têtu C, Vanasse A, Roy-Lacroix MÈ, Poder TG, Marelli AJ, Cavallé-Garrido T, Vaujois L, Bigras JL, Dallaire F.

J Obstet Gynaecol Can. 2019 Apr;41(4):459-465.e12. doi: 10.1016/j.jogc.2018.10.009. Epub 2018 Dec 25.

PMID: 30591407

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  1. It’s All About the Foot Pedal: One Small Step for the Obstetric Sonographer, One Big Step for the Prenatal Detection of Congenital Heart Disease.

Sklansky MS, Satou GM, DeVore GR.

J Ultrasound Med. 2019 Apr;38(4):1097-1099. doi: 10.1002/jum.14784. Epub 2018 Aug 31. No abstract available.

PMID: 30171623

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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 Apr;7(4):e00567. doi: 10.1002/mgg3.567. Epub 2019 Feb 5.

PMID: 30722102 Free PMC Article

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  1. Altered in utero kidney development in newborns with congenital heart disease.

Scholes GB, Zannino D, Kausman JY, Cheung MMH.

Pediatr Res. 2019 Apr;85(5):644-649. doi: 10.1038/s41390-018-0163-0. Epub 2018 Sep 11.

PMID: 30228371

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  1. Fetal heart rhabdomyomatosis: a single-center experience.

Pavlicek J, Klaskova E, Kapralova S, Prochazka M, Vrtel R, Gruszka T, Kacerovsky M.

J Matern Fetal Neonatal Med. 2019 Apr 28:1-231. doi: 10.1080/14767058.2019.1613365. [Epub ahead of print]

PMID: 31032681

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  1. Fetal descending aortic tortuosity with ductal aneurysm.

Karmegaraj B, Rajeshkannan R, Kappanayil M, Vaidyanathan B.

Ultrasound Obstet Gynecol. 2019 Apr 25. doi: 10.1002/uog.20303. [Epub ahead of print]

PMID: 31021025

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  1. Prenatal diagnosis, associated findings and postnatal outcome of fetuses with double outlet right ventricle (DORV) in a single center.

Gottschalk I, Abel JS, Menzel T, Herberg U, Breuer J, Gembruch U, Geipel A, Brockmeier K, Berg C, Strizek B.

J Perinat Med. 2019 Apr 24;47(3):354-364. doi: 10.1515/jpm-2018-0316.

PMID: 30676006

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  1. Fetal echocardiographic prediction score for perinatal mortality of tricuspid valve malformation and Ebstein anomaly.

Torigoe F, Ishida H, Ishii Y, Ishii R, Narita J, Kawazu Y, Kayatani F, Inamura N.

Ultrasound Obstet Gynecol. 2019 Apr 22. doi: 10.1002/uog.20302. [Epub ahead of print]

PMID: 31008542

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  1. Prenatal diagnosis of left pulmonary artery sling and review of literature.

Sezer S, Acar DK, Ekiz A, Kaya B, Bornaun H, Aslan H.

Echocardiography. 2019 Apr 9. doi: 10.1111/echo.14325. [Epub ahead of print]

PMID: 30968436

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  1. A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect.

Fardon M, Dehaini H, Kamar A, Bitar F, Majdalani M, El-Rassi I, Nemer G, Arabi M.

Pediatr Cardiol. 2019 Apr 6. doi: 10.1007/s00246-019-02099-y. [Epub ahead of print]

PMID: 30955100

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  1. Prenatal Diagnosis and Successful Palliation of Absent Aortic Valve with Hypoplastic Left Heart Syndrome: A Case Report and Review of Literature.

Qasim A, Johnson CB, Aly MA, Aly AM.

AJP Rep. 2019 Apr;9(2):e121-e126. doi: 10.1055/s-0038-1677480. Epub 2019 Apr 9.

PMID: 30972226 Free PMC Article

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  1. Genetic architecture of laterality defects revealed by whole exome sequencing.

Li AH, Hanchard NA, Azamian M, D’Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW.

Eur J Hum Genet. 2019 Apr;27(4):563-573. doi: 10.1038/s41431-018-0307-z. Epub 2019 Jan 8.

PMID: 30622330

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  1. Comprehensive Evaluation of Fetal Cardiac Ventricular Widths and Ratios Using a 24-Segment Speckle Tracking Technique.

DeVore GR, Cuneo B, Klas B, Satou G, Sklansky M.

J Ultrasound Med. 2019 Apr;38(4):1039-1047. doi: 10.1002/jum.14792. Epub 2018 Oct 2.

PMID: 30280404

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  1. Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Mastromoro G, Calcagni G, Versacci P, Putotto C, Chinali M, Lambiase C, Unolt M, Pelliccione E, Anaclerio S, Caprio C, Cioffi S, Bilio M, Baban A, Drago F, Digilio MC, Marino B, Baldini A.

PLoS One. 2019 Apr 1;14(4):e0211170. doi: 10.1371/journal.pone.0211170. eCollection 2019.

PMID: 30933971 Free PMC Article

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  1. Myocardial strain abnormalities in fetuses with pulmonary atresia and intact ventricular septum.

Cohen J, Binka E, Woldu K, Levasseur S, Glickstein J, Freud LR, Chelliah A, Chiu JS, Shah A.

Ultrasound Obstet Gynecol. 2019 Apr;53(4):512-519. doi: 10.1002/uog.19183. Epub 2019 Mar 12.

PMID: 30043402

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