Fetal Cardiology Featured Articles of May 2016

  1. Prenatal diagnosis of absent pulmonary valve syndrome from the 1st trimester onward: novel insights into pathophysiology, associated conditions and outcome of a rare cardiac defect.

Gottschalk I, Jehle C, Herberg U, Breuer J, Brockmeier K, Bennink G, Hellmund A, Strizek B, Gembruch U, Geipel A, Berg C.

Ultrasound Obstet Gynecol. 2016 May 31. doi: 10.1002/uog.15977. [Epub ahead of print]

PMID: 27240926

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Take Home Points:

  1. Absent pulmonary valve syndrome (APVS) is a rare congenital heart defect with poor survival.
  2. Overall survival in this study was 27.5%.
  3. Patency of ductus arteriosus, reversal of flow during atrial contraction in ductus venosus, umbilical artery and/or middle cerebral artery and hydrops were associated with mortality.

Abarbanell picture smallCommentary from Dr. Ginnie Abarbanell (Atlanta), section editor of Pediatric Cardiology Journal Watch: This is a compilation of 40 cases of absent pulmonary valve syndrome (APVS) prenatally diagnosed from 2 institutions in Germany.  This study is a nice summary of the outcomes of APVS and abnormalities associated with mortality.  Over 90% of all cases were associated with tetralogy of Fallot.  Chromosomal abnormalities were present in 45% of all cases.  There were only 11 survivors (27.5%).  See figure. The following prenatal findings were associated with non-survival:  patency of ductus arteriosus, reversal of flow during atrial contraction in ductus venosus, umbilical artery and/or middle cerebral artery and hydrops.  Pulmonary valve annulus z-score, right pulmonary artery z-score and cardiothoracic ratio were not significantly associated with survival. One survivor required a tracheostomy.  Isolated TOF+APVS with agenesis of ductus arteriosus had the best prognosis with >80% survival.

Diagram created by Ginnie Abarbanell (not from the manuscript)fetal1

 

FETAL CARDIOLOGY ARTICLES – MAY 2016

  1. Longitudinal changes in fetal biometries and cerebroplacental haemodynamics in fetuses with congenital heart disease.

Ruiz A, Cruz-Lemini M, Masoller N, Sanz-Cortés M, Ferrer Q, Ribera I, Martínez JM, Crispi F, Arévalo S, Gómez O, Pérez-Hoyos S, Carreras E, Gratacós E, Llurba E.

Ultrasound Obstet Gynecol. 2016 May 23. doi: 10.1002/uog.15970. [Epub ahead of print]

PMID: 27214694

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  1. Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.

Browne PC, Adam S, Badr M, Brooks CR, Edwards J, Walker P, Mohamed S, Gregg AR.

J Neonatal Perinatal Med. 2016 May 17. [Epub ahead of print]

PMID: 27197934

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  1. Sequential Ligand-Dependent Notch Signaling Activation Regulates Valve Primordium Formation and Morphogenesis.

MacGrogan D, D’Amato G, Travisano S, Martinez-Poveda B, Luxán G, Del Monte-Nieto G, Papoutsi T, Sbroggio M, Bou V, Gomez-Del Arco P, Gómez MJ, Zhou B, Redondo JM, Jiménez-Borreguero LJ, de la Pompa JL.

Circ Res. 2016 May 13;118(10):1480-97. doi: 10.1161/CIRCRESAHA.115.308077. Epub 2016 Apr 7.

PMID: 27056911

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  1. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.

Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Bahjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A.

Am J Hum Genet. 2016 May 11. pii: S0002-9297(16)30057-X. doi: 10.1016/j.ajhg.2016.03.022. [Epub ahead of print]

PMID: 27181681

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  1. Prokineticin receptor-1 signaling promotes Epicardial to Mesenchymal Transition during heart development.

Arora H, Boulberdaa M, Qureshi R, Bitirim V, Gasser A, Messaddeq N, Dolle P, Nebigil CG.

Sci Rep. 2016 May 6;6:25541. doi: 10.1038/srep25541.

PMID: 27150455 Free PMC Article

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  1. A gain-of-function ACTC1 3’UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.

Wang Y, Du X, Zhou Z, Jiang J, Zhang Z, Ye L, Hong H.

Sci Rep. 2016 May 3;6:25404. doi: 10.1038/srep25404.

PMID: 27139165 Free PMC Article

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  1. Associated genetic syndromes and extracardiac malformations strongly influence outcomes of fetuses with congenital heart diseases.

Bensemlali M, Bajolle F, Ladouceur M, Fermont L, Lévy M, Le Bidois J, Salomon LJ, Bonnet D.

Arch Cardiovasc Dis. 2016 May;109(5):330-6. doi: 10.1016/j.acvd.2016.01.006. Epub 2016 Mar 25.

PMID: 27020512

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  1. Genetics of congenital heart disease.

Edwards JJ, Gelb BD.

Curr Opin Cardiol. 2016 May;31(3):235-41. doi: 10.1097/HCO.0000000000000274.

PMID: 26872209

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  1. LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease.

Christ A, Herzog K, Willnow TE.

Dev Dyn. 2016 May;245(5):569-79. doi: 10.1002/dvdy.24394. Epub 2016 Mar 4. Review.

PMID: 26872844

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  1. Fetal Diagnosis of Abnormal Origin of the Left Pulmonary Artery.

Tretter JT, Tretter EM, Rafii DY, Anderson RH, Bhatla P.

Echocardiography. 2016 May 1. doi: 10.1111/echo.13239. [Epub ahead of print]

PMID: 27132629

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  1. Image-Derived Assessment of Left Ventricular Mass in Fetal Myocardial Hypertrophy by 4-Dimensional Echocardiography: An In Vitro Study.

Liu X, Zhu M, Streiff C, Sahn DJ, Ashraf M.

J Ultrasound Med. 2016 May;35(5):943-9. doi: 10.7863/ultra.15.05043. Epub 2016 Apr 1.

PMID: 27036164

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  1. Prenatal diagnosis of congenital heart defects: accuracy and discrepancies in a multicenter cohort.

van Velzen CL, Clur SA, Rijlaarsdam ME, Pajkrt E, Bax CJ, Hruda J, de Groot CJ, Blom NA, Haak MC.

Ultrasound Obstet Gynecol. 2016 May;47(5):616-22. doi: 10.1002/uog.15742.

PMID: 26350159

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  1. Prenatal diagnosis of absent pulmonary valve syndrome from the 1st trimester onward: novel insights into pathophysiology, associated conditions and outcome of a rare cardiac defect.

Gottschalk I, Jehle C, Herberg U, Breuer J, Brockmeier K, Bennink G, Hellmund A, Strizek B, Gembruch U, Geipel A, Berg C.

Ultrasound Obstet Gynecol. 2016 May 31. doi: 10.1002/uog.15977. [Epub ahead of print]

PMID: 27240926

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  1. De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.

Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM.

Hum Genet. 2016 May 27. [Epub ahead of print]

PMID: 27234373

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  1. The peroxisome proliferator-activated receptors under epigenetic control in placental metabolism and fetal development.

Lendvai Á, Deutsch MJ, Plösch T, Ensenauer R.

Am J Physiol Endocrinol Metab. 2016 May 15;310(10):E797-810. doi: 10.1152/ajpendo.00372.2015. Epub 2016 Feb 9. Review.

PMID: 26860983

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  1. Epicardium is required for cardiac seeding by yolk sac macrophages, precursors of resident macrophages of the adult heart.

Stevens SM, Gise Av, VanDusen N, Zhou B, Pu WT.

Dev Biol. 2016 May 15;413(2):153-9. doi: 10.1016/j.ydbio.2016.03.014. Epub 2016 Mar 14.

PMID: 26988120

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  1. Giant Coronary Artery Fistula: Prenatal Diagnosis, Newborn Manifestation.

Kaldararova M, Tittel P, Zahorec M.

Rev Esp Cardiol (Engl Ed). 2016 May 10. pii: S1885-5857(16)30020-2. doi: 10.1016/j.rec.2016.01.033. [Epub ahead of print] English, Spanish. No abstract available.

PMID: 27178116

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  1. Fetal left ventricular myocardial performance index: Defining normal values for Indian population and a review of literature.

Nair A, Radhakrishnan S.

Ann Pediatr Cardiol. 2016 May-Aug;9(2):132-6. doi: 10.4103/0974-2069.177516.

PMID: 27212847 Free PMC Article

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  1. Multimodality imaging of aortic coarctation: From the fetus to the adolescent.

Gach P, Dabadie A, Sorensen C, Quarello E, Bonello B, Pico H, Hugues N, Petit P, Gorincour G.

Diagn Interv Imaging. 2016 May;97(5):581-90. doi: 10.1016/j.diii.2016.03.006. Epub 2016 Apr 25.

PMID: 27132712

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  1. Importance of Relationship between Ductus and Isthmus in Fetal Diagnosis of Coarctation of Aorta.

Toole BJ, Schlosser B, McCracken CE, Stauffer N, Border WL, Sachdeva R.

Echocardiography. 2016 May;33(5):771-7. doi: 10.1111/echo.13140. Epub 2015 Dec 14.

PMID: 26667892

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  1. Reference Values and Z Scores for Pulsed-Wave Doppler and M-Mode Measurements in Fetal Echocardiography.

Gagnon C, Bigras JL, Fouron JC, Dallaire F.

J Am Soc Echocardiogr. 2016 May;29(5):448-460.e9. doi: 10.1016/j.echo.2016.01.002. Epub 2016 Mar 9.

PMID: 26971082

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  1. Prenatal and Postnatal Survival of Fetal Tetralogy of Fallot: A Meta-analysis of Perinatal Outcomes and Associated Genetic Disorders.

Zhao Y, Abuhamad A, Fleenor J, Guo Y, Zhang W, Cao D, Zeng S, Sinkovskaya E, Zhou Q.

J Ultrasound Med. 2016 May;35(5):905-15. doi: 10.7863/ultra.15.04055. Epub 2016 Mar 28.

PMID: 27022172

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  1. Propofol administration to the fetal-maternal unit reduces cardiac oxidative stress in preterm lambs subjected to prenatal asphyxia and cardiac arrest.

Seehase M, Houthuizen P, Collins JJ, Zimmermann LJ, Kramer BW.

Pediatr Res. 2016 May;79(5):748-53. doi: 10.1038/pr.2016.10. Epub 2016 Jan 13.

PMID: 26761124

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  1. Myocardial strain can be measured from first trimester fetal echocardiography using velocity vector imaging.

Chelliah A, Dham N, Frank LH, Donofrio M, Krishnan A.

Prenat Diagn. 2016 May;36(5):483-8. doi: 10.1002/pd.4813. Epub 2016 Apr 7.

PMID: 26991266

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  1. Fetal left ventricular myocardial performance index: Defining normal values for Indian population and a review of literature.

Nair A, Radhakrishnan S.

Ann Pediatr Cardiol. 2016 May-Aug;9(2):132-6. doi: 10.4103/0974-2069.177516.

PMID: 27212847 Free PMC Article

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