Fetal Cardiology Featured Articles of September 2015

1. Screening performances of abnormal first-trimester ductus venosus blood flow and increased nuchal translucency thickness in detection of major heart defects.

Karadzov-Orlic N, Egic A, Filimonovic D, Damnjanovic-Pazin B, Milovanovic Z, Lukic R, Mandic V, Joksic I, Vukomanovic V, Kosutic J, Djuricic S, Mikovic Z.

Prenat Diagn. 2015 Sep 25. doi: 10.1002/pd.4693. [Epub ahead of print]

PMID: 26408089

Shaji Menon Portrait 12.15.14Comment from Dr. Shaji Menon (Salt Lake City, UT), section editor of Fetal Cardiology Journal Watch: First trimester fetal nuchal translucency (NT) assessment is used for screening for the presence of a congenital heart defect. In a recent meta-analysis, detection rate of HD was 45% with NT>95th centile and 20% with NT>99th centile in chromosomally normal fetuses. The aim of this study was to evaluate the screening performances of abnormal ductus venosus (DV) blood flow assessment for the detection of HD in chromosomally normal fetuses with increased NT thickness at 11 ± 0 to 13 ± 6 weeks of gestation in singleton pregnancies. DV waveforms were considered to be abnormal if the a-wave was reversed or absent (R/A). Addition of DV R/A a-wave to either NT ≥ 95th or NT ≥ 99th percentile increased specificity, but not screening performances in detection of major heart defects. Combination of DV R/A a-wave with NT ≥ 95th or NT ≥ 99th centile correlated with right-sided heart defects and AV septal defects.

Take-home points:

#1. In chromosomally normal fetuses, addition of abnormal DV a-wave to increased NT does not improve screening performances of NT in detection of major heart defects.

#2. Combination of DV R/A a-wave with NT ≥ 95th or NT ≥ 99th centile correlated with right-sided heart defects and AV septal defects

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2. A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.

Wilson KD, Shen P, Fung E, Karakikes I, Zhang A, Inanloo-Rahatloo K, Odegaard J, Sallam K, Davis RW, Lui GK, Ashley EA, Scharfe C, Wu JC.

Circ Res. 2015 Sep 11;117(7):603-11. doi: 10.1161/CIRCRESAHA.115.306723. Epub 2015 Aug 11.

PMID: 26265630

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Abarbanell picture smallComment from Dr. Ginnie Abarbanell (Atlanta), section editor of Fetal Cardiology Journal Watch: The field of cardiac genetics is ever expanding.  This article describes a new technique termed padlock next generation sequencing (NGS) which uses a complementary long padlock probe (cLPP).  The cLPP “uses physically tethered amplification primers to rapidly capture and amplify thousands of targets in a single reaction at extremely high specificity and efficiency.” See Figure 1.  Researchers used cLPP technology to “capture and amplify the entire coding region and flanking intronic and regulatory sequences of 88 genes and 40 microRNAs associated with inherited cardiomyopathies, congenital heart disease, and cardiac development.”  The researchers found padlock next generation assay “detected significantly more protein-coding variants in the target 88 cardiomyopathy and CHD genes compared with whole exome sequencing.” See Figure 3.  The estimated cost of this padlock next generation assay was $100 per sample which compares to estimated cost of $1000–$15,000 for whole exome sequencing and whole genome sequencing.  However, the estimated cost of $100 did not include the fixed cost of the NGS instrument, cost of bioinformatics personnel or licensed software.

Take Home Points:

  1. Padlock next generation sequencing (NGS) is a new assay which uses complementary long padlock probes to “rapidly capture and amplify thousands of targets in a single reaction at extremely high specificity and efficiency”.
  2. Padlock NGS maybe the next frontier in the field of cardiac genetics.

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Fetal Cardiology Articles of September 2015

  1. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E.

J Med Genet. 2015 Sep 30. pii: jmedgenet-2015-103184. doi: 10.1136/jmedgenet-2015-103184. [Epub ahead of print]

PMID: 26424144

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  1. A neural crest origin for cohesinopathy heart defects.

Schuster K, Leeke B, Meier M, Wang Y, Newman T, Burgess S, Horsfield JA.

Hum Mol Genet. 2015 Sep 29. pii: ddv402. [Epub ahead of print]

PMID: 26420840

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  1. Histone deacetylase 3 coordinates deacetylase-independent epigenetic silencing of TGFβ1 to orchestrate second heart field development.

Lewandowski SL, Janardhan HP, Trivedi CM.

J Biol Chem. 2015 Sep 29. pii: jbc.M115.684753. [Epub ahead of print]

PMID: 26420484 Free Article

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  1. Clinical Utility of Postmortem Micro-Computed Tomography of the Fetal Heart: Diagnostic Imaging versus Macroscopic Dissection.

Hutchinson JC, Arthurs OJ, Ashworth MT, Ramsey AT, Mifsud W, Lombardi CM, Sebire NJ.

Ultrasound Obstet Gynecol. 2015 Sep 28. doi: 10.1002/uog.15764. [Epub ahead of print]

PMID: 26415141

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  1. Characterisation of the human embryonic and foetal epicardium during heart development.

Risebro CA, Vieira JM, Riley PR.

Development. 2015 Sep 22. pii: dev.127621. [Epub ahead of print]

PMID: 26395486

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  1. AAV6-mediated Cardiac Specific Over-expression of Ribonucleotide Reductase Enhances Myocardial Contractility.

Kolwicz SC Jr, Odom GL, Nowakowski SG, Moussavi-Harami F, Chen X, Reinecke H, Hauschka SD, Murry CE, Mahairas GG, Regnier M.

Mol Ther. 2015 Sep 21. doi: 10.1038/mt.2015.176. [Epub ahead of print]

PMID: 26388461

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  1. Prenatal diagnosis of a left ventricular diverticulum and coarctation of the aorta.

Hunter LE, Pushparajah K, Miller O, Anderson D, Simpson JM.

Ultrasound Obstet Gynecol. 2015 Sep 16. doi: 10.1002/uog.15746. [Epub ahead of print]

PMID: 26376444

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  1. Comparative transcriptome analysis of atrial septal defect identifies dysregulated genes during heart septum morphogenesis.

Wang W, Niu Z, Wang Y, Li Y, Zou H, Yang L, Meng M, Wei C, Li Q, Duan L, Xie Y, Zhang Y, Cao Y, Han S, Hou Z, Jiang L.

Gene. 2015 Sep 14. pii: S0378-1119(15)01097-5. doi: 10.1016/j.gene.2015.09.016. [Epub ahead of print]

PMID: 26375510

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  1. 4D subject-specific inverse modeling of the chick embryonic heart outflow tract hemodynamics.

Goenezen S, Chivukula VK, Midgett M, Phan L, Rugonyi S.

Biomech Model Mechanobiol. 2015 Sep 11. [Epub ahead of print]

PMID: 26361767

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  1. A Rapid, High-Quality, Cost-Effective, Comprehensive and Expandable Targeted Next-Generation Sequencing Assay for Inherited Heart Diseases.

Wilson KD, Shen P, Fung E, Karakikes I, Zhang A, InanlooRahatloo K, Odegaard J, Sallam K, Davis RW, Lui GK, Ashley EA, Scharfe C, Wu JC.

Circ Res. 2015 Sep 11;117(7):603-11. doi: 10.1161/CIRCRESAHA.115.306723. Epub 2015 Aug 11.

PMID: 26265630

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  1. Human fetal cardiac progenitors: The role of stem cells and progenitors in the fetal and adult heart.

Bulatovic I, Månsson-Broberg A, Sylvén C, Grinnemo KH.

Best Pract Res Clin Obstet Gynaecol. 2015 Sep 10. pii: S1521-6934(15)00152-2. doi: 10.1016/j.bpobgyn.2015.08.008. [Epub ahead of print]

PMID: 26421632

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  1. Prenatal diagnosis of congenital heart defects; accuracy and discrepancies in a multi-center cohort.

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

Ultrasound Obstet Gynecol. 2015 Sep 9. doi: 10.1002/uog.15742. [Epub ahead of print]

PMID: 26350159

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  1. Nos3-/- iPSCs model concordant signatures of in utero cardiac pathogenesis.

Campbell KA, Li X, Biendarra SM, Terzic A, Nelson TJ.

J Mol Cell Cardiol. 2015 Sep 4;87:228-236. doi: 10.1016/j.yjmcc.2015.08.021. [Epub ahead of print]

PMID: 26344701

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  1. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL.

Am J Med Genet A. 2015 Sep;167(9):2052-64. doi: 10.1002/ajmg.a.37120. Epub 2015 Jun 11.

PMID: 26097203

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  1. Fetal MRI detects early alterations of brain development in Tetralogy of Fallot.

Schellen C, Ernst S, Gruber GM, Mlczoch E, Weber M, Brugger PC, Ulm B, Langs G, Salzer-Muhar U, Prayer D, Kasprian G.

Am J Obstet Gynecol. 2015 Sep;213(3):392.e1-7. doi: 10.1016/j.ajog.2015.05.046. Epub 2015 May 23.

PMID: 26008177

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  1. Authors’ reply re: Prenatal detection of congenital heart disease-results of a national screening programme.

van Velzen CL, Pajkrt E, Haak MC; CAHAL Prenatal Research Group.

BJOG. 2015 Sep;122(10):1421. doi: 10.1111/1471-0528.13417. No abstract available.

PMID: 26307477

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  1. Re: Prenatal detection of congenital heart disease-results of a national screening programme.

Ramaekers P, Mannaerts D, Jacquemyn Y.

BJOG. 2015 Sep;122(10):1420-1. doi: 10.1111/1471-0528.13416. No abstract available.

PMID: 26307475

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  1. Endoderm convergence controls subduction of the myocardial precursors during heart-tube formation.

Ye D, Xie H, Hu B, Lin F.

Development. 2015 Sep 1;142(17):2928-40. doi: 10.1242/dev.113944.

PMID: 26329600

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  1. The vital role the ductus arteriosus plays in the fetal diagnosis of congenital heart disease: Evaluation by fetal echocardiography in combination with an innovative cardiovascular cast technology.

Han W, Xie M, Cheng TO, Wang Y, Zhang L, Hu Y, Cao H, Hong L, Yang Y, Sun Z, Yu L.

Int J Cardiol. 2015 Sep 1;202:90-96. doi: 10.1016/j.ijcard.2015.08.156. [Epub ahead of print]

PMID: 26386931

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  1. Combined hypoxia inducible factor-1α and homogeneous endothelial progenitor cell therapy attenuates shunt flow-induced pulmonary arterial hypertension in rabbits.

Cao G, Liu C, Wan Z, Liu K, Sun H, Sun X, Tang M, Bing W, Wu S, Pang X, Zhang X.

J Thorac Cardiovasc Surg. 2015 Sep;150(3):621-32. doi: 10.1016/j.jtcvs.2015.05.035. Epub 2015 May 15.

PMID: 26071969

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  1. Noncompaction of Ventricular Myocardium Involving the Right Ventricle.

Saglam M, Saygin H, Kozan H, Ozturk E, Mutlu H.

Korean Circ J. 2015 Sep;45(5):439-41. doi: 10.4070/kcj.2015.45.5.439. Epub 2015 Jun 25.

PMID: 26413114 Free PMC Article

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  1. Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations.

Cheng H, Li H, Bu Z, Zhang Q, Bai B, Zhao H, Li RK, Zhang T, Xie J.

Mol Cell Biochem. 2015 Sep;407(1-2):51-6. doi: 10.1007/s11010-015-2453-8. Epub 2015 Jun 5.

PMID: 26045171

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  1. Periconceptional Folic Acid Supplementation and Infant Risk of Congenital Heart Defects in Norway 1999-2009.

Leirgul E, Gildestad T, Nilsen RM, Fomina T, Brodwall K, Greve G, Vollset SE, Holmstrøm H, Tell GS, Øyen N.

Paediatr Perinat Epidemiol. 2015 Sep;29(5):391-400. doi: 10.1111/ppe.12212. Epub 2015 Jul 24.

PMID: 26212116

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  1. 3-D volumetric MRI evaluation of the placenta in fetuses with complex congenital heart disease.

Andescavage N, Yarish A, Donofrio M, Bulas D, Evangelou I, Vezina G, McCarter R, duPlessis A, Limperopoulos C.

Placenta. 2015 Sep;36(9):1024-30. doi: 10.1016/j.placenta.2015.06.013. Epub 2015 Jul 6.

PMID: 26190037

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  1. Disparities in the prenatal detection of critical congenital heart disease.

Hill GD, Block JR, Tanem JB, Frommelt MA.

Prenat Diagn. 2015 Sep;35(9):859-63. doi: 10.1002/pd.4622. Epub 2015 Jun 15.

PMID: 25989740

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  1. Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells.

Yang C, Al-Aama J, Stojkovic M, Keavney B, Trafford A, Lako M, Armstrong L.

Stem Cells. 2015 Sep;33(9):2643-51. doi: 10.1002/stem.2070. Epub 2015 Jun 23.

PMID: 26033645

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  1. D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.

Levitas A, Konstantino Y, Muhammad E, Afawi Z, Marc Weinstein J, Amit G, Etzion Y, Parvari R.

Eur J Hum Genet. 2015 Sep 30. doi: 10.1038/ejhg.2015.195. [Epub ahead of print]

PMID: 26419279

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  1. Folic acid promotes recycling of tetrahydrobiopterin and protects against hypoxia-induced pulmonary vascular hypertension by recoupling endothelial nitric oxide synthase.

Chalupsky K, Kračun D, Kanchev I, Bertram K, Görlach A.

Antioxid Redox Signal. 2015 Sep 28. [Epub ahead of print]

PMID: 26414244

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  1. Screening performances of abnormal first-trimester ductus venosus blood flow and increased nuchal translucency thickness in detection of major heart defects.

Karadzov-Orlic N, Egic A, Filimonovic D, Damnjanovic-Pazin B, Milovanovic Z, Lukic R, Mandic V, Joksic I, Vukomanovic V, Kosutic J, Djuricic S, Mikovic Z.

Prenat Diagn. 2015 Sep 25. doi: 10.1002/pd.4693. [Epub ahead of print]

PMID: 26408089

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  1. Utility of ductus venosus blood flow in the study of cardiac function in fetuses with intracardiac echogenic focus.

Avcı ME, Yozgat Y, Şanlıkan F, Yıldırım G, Polat İ, Karaarslan U.

J Clin Ultrasound. 2015 Sep 24. doi: 10.1002/jcu.22308. [Epub ahead of print]

PMID: 26402028

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  1. Intrauterine Treatment of a Fetus with Familial Hypertrophic Cardiomyopathy Secondary to MYH7 Mutation.

Hill MG, Sekhon MK, Reed KL, Anderson CF, Borjon ND, Tardiff JC, Barber BJ.

Pediatr Cardiol. 2015 Sep 4. [Epub ahead of print]

PMID: 26337809

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  1. Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect.

Burger NB, Bekker MN, Kok E, De Groot CJ, Martin JF, Shou W, Scambler PJ, Lee Y, Christoffels VM, Haak MC.

Prenat Diagn. 2015 Sep 4. doi: 10.1002/pd.4687. [Epub ahead of print]

PMID: 26338284

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  1. Right Aortic Arch Detected Prenatally: A Rare Case With Bilateral Arterial Duct and Nonconfluent Pulmonary Arteries.

Ricci S, Fainardi V, Spaziani G, Favilli S, Chiappa E.

Can J Cardiol. 2015 Sep;31(9):1205.e1-2. doi: 10.1016/j.cjca.2015.03.030. Epub 2015 Apr 1.

PMID: 26118445

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  1. Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course.

Chiappa E, Greco A, Fainardi V, Passantino S, Serranti D, Favilli S.

Echocardiography. 2015 Sep;32(9):1441-3. doi: 10.1111/echo.12941. Epub 2015 Mar 25.

PMID: 25809619

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  1. Fetal Diagnosis of d-Transposition of the Great Arteries Associated With a Double Aortic Arch.

Anuwutnavin S, Satou G, Finn P, Lee L, Sklansky M.

J Ultrasound Med. 2015 Sep;34(9):1701-6. doi: 10.7863/ultra.15.14.10012. Epub 2015 Aug 12. No abstract available.

PMID: 26269298

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  1. Can abnormal ductus venosus peak velocity index for veins in normal fetuses predict failure of functional closure of the foramen ovale in the postnatal period?

Yozgat Y, Avci ME, Kilic A, Ozdemir R, Demirol M, Karaarslan U, Mese T, Unal N.

Med Ultrason. 2015 Sep;17(3):295-9. doi: 10.11152/mu.2013.2066.173.yyk.

PMID: 26343076 Free Article

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