12/ 2014 Fetal Cardiology

1. Association of MTHFR A1298C polymorphism with conotruncal heart disease.

Sayin Kocakap BD, Sanli C, Cabuk F, Koc M, Kutsal A.

Cardiol Young. 2014 Dec 30:1-6. [Epub ahead of print]

PMID: 25547204 [PubMed – as supplied by publisher]

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2. Using optical coherence tomography to rapidly phenotype and quantify congenital heart defects associated with prenatal alcohol exposure.

Karunamuni G, Gu S, Doughman YQ, Noonan AI, Rollins AM, Jenkins MW, Watanabe M.

Dev Dyn. 2014 Dec 27. doi: 10.1002/dvdy.24246. [Epub ahead of print]

PMID: 25546089 [PubMed – as supplied by publisher]

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3. An early requirement for nkx2.5 ensures the first and second heart field ventricular identity and cardiac function into adulthood.

George V, Colombo S, Targoff KL.

Dev Biol. 2014 Dec 20. pii: S0012-1606(14)00649-6. doi: 10.1016/j.ydbio.2014.12.019. [Epub ahead of print]

PMID: 25536398 [PubMed – as supplied by publisher]

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4. Next-generation sequencing in congenital heart disease: do new brooms sweep clean?

Andelfinger G.

J Am Coll Cardiol. 2014 Dec 16;64(23):2507-9. doi: 10.1016/j.jacc.2014.09.049. No abstract available.

PMID: 25500236 [PubMed – in process]

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5. Elevated NCX1 and NCKX4 Expression in the Patent Postnatal Ductus Arteriosus of Ductal-Dependent Congenital Heart Disease Patients.

Hong H, Xia Y, Sun Y, Ye L, Liu J, Bai J, Zhang H.

Pediatr Cardiol. 2014 Dec 12. [Epub ahead of print]

PMID: 25500693 [PubMed – as supplied by publisher]

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6. High throughput exome coverage of clinically relevant cardiac genes.

Manase D, D Alessandro L, Manickaraj A, Al Turki S, Hurles ME, Mital S.

BMC Med Genomics. 2014 Dec 11;7(1):67. [Epub ahead of print]

PMID: 25496018 [PubMed – as supplied by publisher] Free PMC Article

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7. Association of TBX20 Gene Polymorphism with Congenital Heart Disease in Han Chinese Neonates.

Chen J, Sun F, Fu J, Zhang H.

Pediatr Cardiol. 2014 Dec 9. [Epub ahead of print]

PMID: 25487630 [PubMed – as supplied by publisher]

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8. Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome.

Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S.

Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004.

PMID: 25480037 [PubMed – in process]

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9. Association Between MTHFR Polymorphisms and Congenital Heart Disease: A Meta-analysis based on 9,329 cases and 15,076 controls.

Xuan C, Li H, Zhao JX, Wang HW, Wang Y, Ning CP, Liu Z, Zhang BB, He GW, Lun LM.

Sci Rep. 2014 Dec 4;4:7311. doi: 10.1038/srep07311.

PMID: 25472587 [PubMed – in process] Free PMC Article

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10. Promoter methylation and expression of the VANGL2 gene in the myocardium of pediatric patients with Tetralogy of Fallot.

Yuan Y, Gao Y, Wang H, Ma X, Ma D, Huang G.

Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):973-84. doi: 10.1002/bdra.23291. Epub 2014 Sep 8.

PMID: 25200836 [PubMed – in process]

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11. Periconceptional parental conditions and perimembranous ventricular septal defects in the offspring.

Wijnands KP, Zeilmaker GA, Meijer WM, Helbing WA, Steegers-Theunissen RP.

Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):944-50. doi: 10.1002/bdra.23265. Epub 2014 Sep 5.

PMID: 25196200 [PubMed – in process]

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12. Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E.

Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):951-64. doi: 10.1002/bdra.23279. Epub 2014 Jul 26.

PMID: 25066379 [PubMed – in process]

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13. [Mutation of the lamin A/C gene associated with left ventricular apical hypoplasia: a new phenotype for laminopathies?].

Pica S, Ghio S, Raineri C, Scelsi L, Turco A, Visconti LO.

G Ital Cardiol (Rome). 2014 Dec;15(12):717-9. doi: 10.1714/1718.18778. Italian.

PMID: 25533121 [PubMed – in process]

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14. The incidence rate, high-risk factors, and short- and long-term adverse outcomes of fetal growth restriction: a report from mainland china.

Liu J, Wang XF, Wang Y, Wang HW, Liu Y.

Medicine (Baltimore). 2014 Dec;93(27):e210. doi: 10.1097/MD.0000000000000210.

PMID: 25501078 [PubMed – in process]

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15. Common Variations in BMP4 Confer Genetic Susceptibility to Sporadic Congenital Heart Disease in a Han Chinese Population.

Qian B, Mo R, Da M, Peng W, Hu Y, Mo X.

Pediatr Cardiol. 2014 Dec;35(8):1442-7. doi: 10.1007/s00246-014-0951-1. Epub 2014 Jul 15.

PMID: 25022354 [PubMed – in process] Free PMC Article

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16. [Applied research of combined G-banding and array-CGH in the prenatal diagnosis of ultrasonographic abnormalities in fetuses].

Fu W, Lu J, Xu L, Zheng L, Zhang Y, Zhong Y, Wang Y, Jin Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec;31(6):737-42. doi: 10.3760/cma.j.issn.1003-9406.2014.06.012. Chinese.

PMID: 25449078 [PubMed – in process]

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17. Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy.

Rad EM.

Ann Pediatr Cardiol. 2014 Sep;7(3):217-20. doi: 10.4103/0974-2069.140857.

PMID: 25298700 [PubMed] Free PMC Article

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‘Post-LA space index’ as a potential novel marker for the prenatal diagnosis of isolated total anomalous pulmonary venous connection.

‘Post-LA space index’ as a potential novel marker for the prenatal diagnosis of isolated total anomalous pulmonary venous connection.

Kawazu Y, Inamura N, Shiono N, Kanagawa N, Narita J, Hamamichi Y, Kayatani F.

Ultrasound Obstet Gynecol. 2014 Dec;44(6):682-7. doi: 10.1002/uog.13357. Epub 2014 Oct 30.

PMID: 24604577 [PubMed – in process]

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Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  Prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC) can be challenging. However, prenatal diagnosis of TAPVC will improve postnatal outcome of these infants by reducing complications associated with delayed diagnosis. Authors in this study describe a novel fetal echocardiogram measurement, post-LA space index for prenatal diagnosis of total anomalous pulmonary venous return. This is the ratio of left atrium – descending aorta distance (LD in figure) and descending aorta diameter. A post-LA space index cut-off of 1 distinguished a TAPVC fetus from a normal fetus with a sensitivity of 100% and a specificity of 89%. The specificity of post-LA space index increased to 97% when the ratio of > 1.27 was used. There was no difference in post-LA space index between supracardiac and infracardiac TAPVC.

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Prenatal Diagnosis and Outcome of Right Aortic Arch without Significant Intracardiac Anomaly.

Prenatal Diagnosis and Outcome of Right Aortic Arch without Significant Intracardiac Anomaly.

Razon Y, Berant M, Fogelman R, Amir G, Birk E.

J Am Soc Echocardiogr. 2014 Dec;27(12):1352-8. doi: 10.1016/j.echo.2014.08.003. Epub 2014 Sep 17.

PMID: 25240492 [PubMed – in process]

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Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  This is a retrospective observational study of 58 fetuses diagnosed with right aortic arch (RAA) (8 with possible double aortic arch) on a fetal echocardiogram from Israel.  The authors describe the postnatal diagnosis and outcome of 52 of these patients. The prevalence RAA without significant structural heart disease was 0.35% in this study. Four patients who were prenatally diagnosed with RAA were found to have double aortic arch (DAA) on postnatal evaluation. Although not all fetuses had chromosomal analysis, of those who underwent genetic testing (15) 9% were found to have a either a chromosomal defect or 22q11.1 deletion. This study demonstrates the feasibility of diagnosis of aortic arch anomalies on fetal echocardiogram. Presence of a RAA on fetal echocardiogram should alert us to the possibility of a vascular ring including DAA and fetal genetic testing may be warranted to exclude 22q11.1 deletion or other chromosomal defects.

fetal 7.1

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Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease.

Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease.

Huber J, Peres VC, de Castro AL, Dos Santos TJ, da Fontoura Beltrão L, de Baumont AC, Cossio SL, Dalberto TP, Riegel M, Cañedo AD, Schaan BD, Pellanda LC.

Pediatr Cardiol. 2014 Dec;35(8):1356-62. doi: 10.1007/s00246-014-0936-0. Epub 2014 Jun 1.

PMID: 24880467 [PubMed – in process]

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Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  This is a cross-sectional study of 392 patients with congenital heart disease from Brazil aimed at estimating the prevalence and clinical features of 22q11.2 deletion using a low cost and screening strategy using polymerase chain reaction (PCR) followed by length polymorphism restriction fragment analysis (RFLP). Fluorescence in situ hybridization (FISH) test is commonly used to identify 22q11.2 deletion and this test can detects more than 95 % of cases. However, in countries with limited health care resources it can be expensive, time consuming, and not widely available, precluding its use for widespread screening. Previous studies have reported a screening strategy using PCR assays with analysis of RFLP based on homozygosity at consecutive markers in the DiGeorge chromosomal region have been shown to be a highly sensitive and specific for detection of 22q11.2 microdeletions at a lower cost.  In this study a low cost PCR–RFLP was initially performed to exclude the deletion followed by FISH or multiplex ligation-dependent probe amplification (MLPA) for final diagnosis. A PCR–RFLP for analysis of polymorphism in three loci with a high heterozygosity rate located in the typically deleted region of 1.5 megabases found a 22q11.2 deletion prevalence of 1.27 % (5 of 392 patients; 95 % CI, 0.16–2.38 %). Low cost and rapid PCR–RFLP complemented by MLPA and FISH for the final diagnosis can be a low cost and effective screening strategy for detection of 22q11.2 deletion in CHD patients especially in limited resource countries.

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A detailed comparison of mouse and human cardiac development.

A detailed comparison of mouse and human cardiac development.

Krishnan A, Samtani R, Dhanantwari P, Lee E, Yamada S, Shiota K, Donofrio MT, Leatherbury L, Lo CW.

Pediatr Res. 2014 Dec;76(6):500-7. doi: 10.1038/pr.2014.128. Epub 2014 Aug 28.

PMID: 25167202 [PubMed – in process]

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Comment from Dr. Shaji Menon (Salt Lake City), section editor of Fetal Cardiology Journal Watch:  Mouse models are often used for studying human congenital heart defects. This study performed a systematic comparative analysis of mouse and human fetal cardiovascular development.

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fetal 5.3

 

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