Congenital heart disease and adverse perinatal outcome in fetuses with confirmed isolated single functioning umbilical artery

Congenital heart disease and adverse perinatal outcome in fetuses with confirmed isolated single functioning umbilical artery.

Araujo Júnior E, Palma-Dias R, Martins WP, Reidy K, da Silva Costa F.

J Obstet Gynaecol. 2014 Jul 14:1-3. [Epub ahead of print]

PMID: 25020205 [PubMed – as supplied by publisher]

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Comments: The study showed that isolated SUA is associated with cardiac anomalies.

A cardiac anomaly was detected in 19 of 261 fetuses (13.0%): six hypoplastic left heart syndromes; three coarctations of the aorta; two tetralogies of Fallot; two hypoplastic right heart syndromes; two pulmonary atresia/stenosis; one absent ductus venosus with cardiomegaly; one left isomerism; one right isomerism and one transposition of the great arteries. Fetal growth restriction was present in 9.8% (10) and preterm delivery before 34 weeks occurred in nine cases (8.7%). SUA was not associated with increased frequency of FGR and preterm delivery before 34 weeks.

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A Mouse Model of Human Congenital Heart Disease: High Incidence of Diverse Cardiac Anomalies and Ventricular Noncompaction Produced by Heterozygous Nkx2-5 Homeodomain Missense Mutation

A Mouse Model of Human Congenital Heart Disease: High Incidence of Diverse Cardiac Anomalies and Ventricular Noncompaction Produced by Heterozygous Nkx2-5 Homeodomain Missense Mutation.

Ashraf H, Pradhan L, Chang EI, Terada R, Ryan NJ, Briggs LE, Chowdhury R, Zárate MA, Sugi Y, Nam HJ, Benson DW, Anderson RH, Kasahara H.

Circ Cardiovasc Genet. 2014 Jul 15. pii: CIRCGENETICS.113.000281. [Epub ahead of print]

PMID: 25028484 [PubMed – as supplied by publisher]

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Comments: The study demonstrates that heterozygous missense mutation in the murine Nkx2-5 homeodomain (R52G) is highly penetrant and result in pleiotropic cardiac effects. Thus, in contrast to heterozygous Nkx2-5 knockout mice, the effects of the heterozygous knockin mimic findings in humans with heterozygous missense mutation in NKX2-5 homeodomain.

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Perinatal Outcomes after Fetal Diagnosis of Single Ventricle Cardiac Defects

Perinatal Outcomes after Fetal Diagnosis of Single Ventricle Cardiac Defects.

Beroukhim RS, Gauvreau K, Benavidez OJ, Baird CW, LaFranchi T, Tworetzky W.

Ultrasound Obstet Gynecol. 2014 Jul 17. doi: 10.1002/uog.14634. [Epub ahead of print]

PMID: 25042627 [PubMed – as supplied by publisher]

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Comments: Whereas the prenatal outcomes of single ventricle cardiac defects were similar, postnatal intermediate-term survival favored those with dominant LV. Prenatally identified ‘high risk’ HLHS was associated with the lowest transplant free survival.

july pic 5

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07/ 2014 Fetal Cardiology Articles

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.

Lowther C, Costain G, Stavropoulos DJ, Melvin R, Silversides CK, Andrade DM, So J, Faghfoury H, Lionel AC, Marshall CR, Scherer SW, Bassett AS.

Genet Med. 2014 Jul 31. doi: 10.1038/gim.2014.83. [Epub ahead of print]

PMID: 25077648 [PubMed – as supplied by publisher]

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How the proteome packages the genome for cardiovascular development.

Karbassi E, Vondriska TM.

Proteomics. 2014 Jul 29. doi: 10.1002/pmic.201400131. [Epub ahead of print]

PMID: 25074278 [PubMed – as supplied by publisher]

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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 Jul 26. doi: 10.1002/bdra.23279. [Epub ahead of print]

PMID: 25066379 [PubMed – as supplied by publisher]

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Preconceptual Folic Acid Use and Recurrence Risk Counseling for Congenital Heart Disease.

Peyvandi S, Rychik J, Zhang X, Shea JA, Goldmuntz E.

Congenit Heart Dis. 2014 Jul 24. doi: 10.1111/chd.12206. [Epub ahead of print]

PMID: 25059817 [PubMed – as supplied by publisher]

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Hand2 elevates cardiomyocyte production during zebrafish heart development and regeneration.

Schindler YL, Garske KM, Wang J, Firulli BA, Firulli AB, Poss KD, Yelon D.

Development. 2014 Jul 18. pii: dev.106336. [Epub ahead of print]

PMID: 25038045 [PubMed – as supplied by publisher]

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Novel and Functional DNA Sequence Variants within the GATA6 Gene Promoter in Ventricular Septal Defects.

Li C, Li X, Pang S, Chen W, Qin X, Huang W, Zeng C, Yan B.

Int J Mol Sci. 2014 Jul 17;15(7):12677-87. doi: 10.3390/ijms150712677.

PMID: 25036032 [PubMed – in process] Free Article

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Perinatal Outcomes after Fetal Diagnosis of Single Ventricle Cardiac Defects.

Beroukhim RS, Gauvreau K, Benavidez OJ, Baird CW, LaFranchi T, Tworetzky W.

Ultrasound Obstet Gynecol. 2014 Jul 17. doi: 10.1002/uog.14634. [Epub ahead of print]

PMID: 25042627 [PubMed – as supplied by publisher]

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NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.

Yang F, Zhou L, Wang Q, You X, Li Y, Zhao Y, Han X, Chang Z, He X, Cheng C, Wu C, Wang WJ, Hu FY, Zhao T, Li Y, Zhao M, Zheng GY, Dong J, Fan C, Yang J, Meng X, Zhang Y, Zhu X, Xiong J, Tian XL, Cao H.

Cardiovasc Res. 2014 Jul 15;103(2):228-37. doi: 10.1093/cvr/cvu134. Epub 2014 May 27.

PMID: 24866383 [PubMed – in process]

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Select item 25028484

 

A Mouse Model of Human Congenital Heart Disease: High Incidence of Diverse Cardiac Anomalies and Ventricular Noncompaction Produced by Heterozygous Nkx2-5 Homeodomain Missense Mutation.

Ashraf H, Pradhan L, Chang EI, Terada R, Ryan NJ, Briggs LE, Chowdhury R, Zárate MA, Sugi Y, Nam HJ, Benson DW, Anderson RH, Kasahara H.

Circ Cardiovasc Genet. 2014 Jul 15. pii: CIRCGENETICS.113.000281. [Epub ahead of print]

PMID: 25028484 [PubMed – as supplied by publisher]

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Select item 25024123

 

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 Jul 15. [Epub ahead of print]

PMID: 25022354 [PubMed – as supplied by publisher]

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A Critical Role for Egr-1 during Vascular Remodelling in Pulmonary Arterial Hypertension.

Dickinson MG, Kowalski PS, Bartelds B, Borgdorff MA, van der Feen D, Sietsma H, Molema G, Kamps JA, Berger RM.

Cardiovasc Res. 2014 Jul 14. pii: cvu169. [Epub ahead of print]

PMID: 25028387 [PubMed – as supplied by publisher]

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ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome.

Buraniqi E, Moodley M.

J Child Neurol. 2014 Jul 14. pii: 0883073814535501. [Epub ahead of print]

PMID: 25028418 [PubMed – as supplied by publisher]

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Select item 25020205

 

Congenital heart disease and adverse perinatal outcome in fetuses with confirmed isolated single functioning umbilical artery.

Araujo Júnior E, Palma-Dias R, Martins WP, Reidy K, da Silva Costa F.

J Obstet Gynaecol. 2014 Jul 14:1-3. [Epub ahead of print]

PMID: 25020205 [PubMed – as supplied by publisher]

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Select item 25042300

 

Low-level 45,X/46,XX mosaicism is not associated with congenital heart disease and thoracic aorta dilatation: a prospective magnetic resonance study.

Klásková E, Tüdös Z, Sobek A, Zapletalová J, Dostál J, Zbořilová B, Sobek A Jr, Adamová K, Lattová V, Dostálová Z, Procházka M.

Ultrasound Obstet Gynecol. 2014 Jul 14. doi: 10.1002/uog.14627. [Epub ahead of print]

PMID: 25042300 [PubMed – as supplied by publisher]

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Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Tan ZP, Xie L, Deng Y, Chen JL, Zhang WZ, Wang J, Yang JF, Yang YF.

Sci Rep. 2014 Jul 10;4:5616. doi: 10.1038/srep05616.

PMID: 25010007 [PubMed – in process]

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Complex Genetics and the Etiology of Human Congenital Heart Disease.

Gelb BD, Chung WK.

Cold Spring Harb Perspect Med. 2014 Jul 1;4(7). pii: a013953. doi: 10.1101/cshperspect.a013953. Review.

PMID: 24985128 [PubMed – as supplied by publisher]

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The zebrafish as a tool to identify novel therapies for human cardiovascular disease.

Asnani A, Peterson RT.

Dis Model Mech. 2014 Jul;7(7):763-767. Review.

PMID: 24973746 [PubMed – as supplied by publisher] Free PMC Article

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Additional sex combs-like family genes are required for normal cardiovascular development.

McGinley AL, Li Y, Deliu Z, Wang QT.

Genesis. 2014 Jul;52(7):671-86. doi: 10.1002/dvg.22793. Epub 2014 Jun 3.

PMID: 24860998 [PubMed – in process]

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Correlation between methyltetrahydrofolate reductase (MTHFR) polymorphisms and isolated patent ductus arteriosus in Taiwan.

Chao CS, Wei J, Huang HW, Yang SC.

Heart Lung Circ. 2014 Jul;23(7):655-60. doi: 10.1016/j.hlc.2014.01.010. Epub 2014 Jan 27.

PMID: 24566197 [PubMed – in process]

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The new 3D/4D based spatio-temporal imaging correlation (STIC) in fetal echocardiography: a promising tool for the future.

Ahmed BI.

J Matern Fetal Neonatal Med. 2014 Jul;27(11):1163-8. doi: 10.3109/14767058.2013.847423. Epub 2013 Oct 24.

PMID: 24059290 [PubMed – in process]

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ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.

Venturin M, Carra S, Gaudenzi G, Brunelli S, Gallo GR, Moncini S, Cotelli F, Riva P.

J Med Genet. 2014 Jul;51(7):436-43. doi: 10.1136/jmedgenet-2013-102240. Epub 2014 Apr 7.

PMID: 24711647 [PubMed – in process]

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Prenatal findings in total anomalous pulmonary venous return: a diagnostic road map starts with obstetric screening views.

Ganesan S, Brook MM, Silverman NH, Moon-Grady AJ.

J Ultrasound Med. 2014 Jul;33(7):1193-207. doi: 10.7863/ultra.33.7.1193.

PMID: 24958406 [PubMed – in process]

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Prenatal diagnosis of prevalence of the right heart: associated anomalies and outcome predictors.

Peng R, Xie HN, Zhu YX, Li LJ, Du L, Zheng J.

J Ultrasound Med. 2014 Jul;33(7):1155-61. doi: 10.7863/ultra.33.7.1155.

PMID: 24958401 [PubMed – in process]

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The Mmachc gene is required for pre-implantation embryogenesis in the mouse.

Moreno-Garcia MA, Pupavac M, Rosenblatt DS, Tremblay ML, Jerome-Majewska LA.

Mol Genet Metab. 2014 Jul;112(3):198-204. doi: 10.1016/j.ymgme.2014.05.002. Epub 2014 May 14.

PMID: 24889031 [PubMed – in process]

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Transcriptional atlas of cardiogenesis maps congenital heart disease interactome.

Li X, Martinez-Fernandez A, Hartjes KA, Kocher JP, Olson TM, Terzic A, Nelson TJ.

Physiol Genomics. 2014 Jul 1;46(13):482-95. doi: 10.1152/physiolgenomics.00015.2014. Epub 2014 May 6.

PMID: 24803680 [PubMed – in process]

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