Fetal Cardiology Featured Articles of December 2016

Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.

Familiari A, Morlando M, Khalil AA, Sven-Erik S, Scala C, Rizzo G, Del Sordo G, Vassallo C, Flacco ME, Manzoli L, Lanzone A, Scambia G, Acharya G, D’Antonio F.

Circulation. 2016 Dec 29. pii: CIRCULATIONAHA.116.024068. doi: 10.1161/CIRCULATIONAHA.116.024068. [Epub ahead of print]

Take Home Points:

  • Coarctation of the aorta can be difficult to diagnose prenatally.
  • This systematic review found there were several significant differences between fetuses diagnosed with coarctation postnatally compared to those without coarctation.
  • The only prenatal ultrasound parameter found to be independently associated with postnatal coarctation was a hypoplastic aortic arch. All other parameters in isolation had poor diagnostic accuracy.

Abarbanell picture smallComment from Dr. Ginnie Abarbanell (Atlanta), section editor of Fetal Cardiology Journal Watch: This systematic review evaluated the published literature to determine prenatal ultrasound risk factors associated with coarctation of the aorta.  Coarctation of the aorta can be difficult to diagnose prenatally and a number of prenatal centers have published different parameters that could be predictive of coarctation.  This review included 12 articles with a total of 922 fetuses at risk for coarctation of the aorta.  The following parameters were significantly different between fetuses postnatally diagnosed with coarctation compared to those without coarctation.

  1. Lower mean mitral valve diameter z-score
  2. Higher mean tricuspid valve diameter z-score
  3. Lower mean aortic valve diameter z-score
  4. No difference in ascending aorta diameter
  5. Lower mean aortic isthmus diameter z-scores
  6. Higher mean pulmonary artery diameter z-score
  7. Higher right/left ventricle ratio
  8. Higher pulmonary artery/ascending aorta diameter ratio
  9. Lower aortic isthmus/arterial duct diameter ratio
  10. Presence of persistent left superior vena cava, ventricular septal defect or bicuspid aortic valve were not significantly different between fetuses with coarctation compared to those without coarctation.

Hypoplastic aortic arch was the only independently associated prenatal ultrasound risk factor found for postnatal diagnosis of coarctation (sensitivity of 90.0% and specificity of 87.1%).  A coarctation shelf was found to have a high specificity (97.7%) but had a low sensitivity of 48%.  The findings from this study support that a multiple criteria prediction model may improve the detection rate of prenatal coarctation of the aorta.

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Fetal Cardiology and Bench Genetics Articles – December 2016

 

  1. The influence of maternal exposure history to virus and medicine during pregnancy on congenital heart defects of fetus.

Liang Q, Gong W, Zheng D, Zhong R, Wen Y, Wang X.

Environ Sci Pollut Res Int. 2016 Dec 30. doi: 10.1007/s11356-016-8198-4. [Epub ahead of print]

  1. Risk Factors for Coarctation of the Aorta on Prenatal Ultrasound: A Systematic Review and Meta-Analysis.

Familiari A, Morlando M, Khalil AA, Sven-Erik S, Scala C, Rizzo G, Del Sordo G, Vassallo C, Flacco ME, Manzoli L, Lanzone A, Scambia G, Acharya G, D’Antonio F.

Circulation. 2016 Dec 29. pii: CIRCULATIONAHA.116.024068. doi: 10.1161/CIRCULATIONAHA.116.024068. [Epub ahead of print]

  1. Prenatal diagnosis of congenital heart diseases by fetal echocardiography in second trimester: A Chinese multicenter study.

Chu C, Yan Y, Ren Y, Li X, Gui Y.

Acta Obstet Gynecol Scand. 2016 Dec 28. doi: 10.1111/aogs.13085. [Epub ahead of print]

  1. CASZ1 loss-of-function mutation associated with congenital heart disease.

Huang RT, Xue S, Wang J, Gu JY, Xu JH, Li YJ, Li N, Yang XX, Liu H, Zhang XD, Qu XK, Xu YJ, Qiu XB, Li RG, Yang YQ.

Gene. 2016 Dec 20;595(1):62-68. doi: 10.1016/j.gene.2016.09.044.

  1. Myocardial VHL-HIF Signaling Controls an Embryonic Metabolic Switch Essential for Cardiac Maturation.

Menendez-Montes I, Escobar B, Palacios B, Gómez MJ, Izquierdo-Garcia JL, Flores L, Jiménez-Borreguero LJ, Aragones J, Ruiz-Cabello J, Torres M, Martin-Puig S.

Dev Cell. 2016 Dec 19;39(6):724-739. doi: 10.1016/j.devcel.2016.11.012.

  1. The Fetus with Ectopia Cordis: Experience and Expectations from Two Centers.

Escobar-Diaz MC, Sunderji S, Tworetzky W, Moon-Grady AJ.

Pediatr Cardiol. 2016 Dec 19. [Epub ahead of print]

  1. Maternal exosomes in diabetes contribute to the cardiac development deficiency.

Shi R, Zhao L, Cai W, Wei M, Zhou X, Yang G, Yuan L.

Biochem Biophys Res Commun. 2016 Dec 18. pii: S0006-291X(16)32142-8. doi: 10.1016/j.bbrc.2016.12.097. [Epub ahead of print]

  1. A Breakdown in Cooperativity Leads to Cardiac Identity Crisis.

Vujic A, Mahmoud AI, Lee RT.

Cell. 2016 Dec 15;167(7):1674-1676. doi: 10.1016/j.cell.2016.11.056.

  1. Cardiovascular profile score as a predictor of acute intrapartum non-reassuring fetal status in infants with congenital heart defects.

Miyoshi T, Katsuragi S, Neki R, Kurosaki KI, Shiraishi I, Nakai M, Nishimura K, Yoshimatsu J, Ikeda T.

J Matern Fetal Neonatal Med. 2016 Dec 14:1-7. [Epub ahead of print]

  1. HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.

Wang J, Hu XQ, Guo YH, Gu JY, Xu JH, Li YJ, Li N, Yang XX, Yang YQ.

Pediatr Cardiol. 2016 Dec 10. [Epub ahead of print]

  1. [Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome].

Zhang K, Song F, Zhang D, Zhang H, Wang Y, Dong R, Zhang Y, Liu Y, Gai Z.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Dec 10;33(6):816-819. Chinese.

  1. Developmental Mechanisms of Aortic Valve Malformation and Disease.

Wu B, Wang Y, Xiao F, Butcher JT, Yutzey KE, Zhou B.

Annu Rev Physiol. 2016 Dec 9. [Epub ahead of print]

  1. Prenatal diagnosis of idiopathic infantile arterial calcification without fetal hydrops.

Yi Y, Tong T, Liu T, Lin Q, Xiong Y, Xu J.

Echocardiography. 2016 Dec 8. doi: 10.1111/echo.13420. [Epub ahead of print]

  1. Association of maternal chronic disease with risk of congenital heart disease in offspring.

Chou HH, Chiou MJ, Liang FW, Chen LH, Lu TH, Li CY.

CMAJ. 2016 Dec 6;188(17-18):E438-E446.

 

  1. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.

Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K.

Am J Med Genet A. 2016 Dec;170(12):3197-3206. doi: 10.1002/ajmg.a.37949.

 

  1. Fetal Situs, Isomerism, Heterotaxy Syndrome: Diagnostic Evaluation and Implication for Postnatal Management.

Degenhardt K, Rychik J.

Curr Treat Options Cardiovasc Med. 2016 Dec;18(12):77. Review.

  1. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.

Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, Brunner HG, Smeets HJ, Bakkers J, van den Wijngaard A.

Eur J Hum Genet. 2016 Dec;24(12):1783-1791. doi: 10.1038/ejhg.2016.91.

  1. Notch signalling in ventricular chamber development and cardiomyopathy.

D’Amato G, Luxán G, de la Pompa JL.

FEBS J. 2016 Dec;283(23):4223-4237. doi: 10.1111/febs.13773. Review.

  1. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.

Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK.

Hum Genet. 2016 Dec;135(12):1399-1409.

  1. Human Cardiomyocytes Prior to Birth by Integration-Free Reprogramming of Amniotic Fluid Cells.

Jiang G, Herron TJ, Di Bernardo J, Walker KA, O’Shea KS, Kunisaki SM.

Stem Cells Transl Med. 2016 Dec;5(12):1595-1606.

  1. Systematic review and meta-analysis of persistent left superior vena cava on prenatal ultrasound: associated anomalies, diagnostic accuracy and postnatal outcome.

Gustapane S, Leombroni M, Khalil A, Giacci F, Marrone L, Bascietto F, Rizzo G, Acharya G, Liberati M, D’Antonio F.

Ultrasound Obstet Gynecol. 2016 Dec;48(6):701-708. doi: 10.1002/uog.15914. Review.

  1. Area of the Fetal Heart’s Four-Chamber View: A Practical Screening Tool to Improve Detection of Cardiac Abnormalities in a Low-Risk Population.

DeVore GR, Satou G, Sklansky M.

Prenat Diagn. 2016 Dec 11. doi: 10.1002/pd.4980. [Epub ahead of print]

  1. Parameters of fetal pulmonary vascular health: baseline trends and response to maternal hyperoxia in the 2nd and 3rd trimesters.

Yamamoto Y, Hirose A, Howley L, Savard W, Jain V, Hornberger LK.

Ultrasound Obstet Gynecol. 2016 Dec 10. doi: 10.1002/uog.17383. [Epub ahead of print]

  1. Fluid mechanics of human fetal right ventricles from image-based computational fluid dynamics using 4D clinical ultrasound scans.

Wiputra H, Lai CQ, Lim GL, Heng JJ, Guo L, Soomar SM, Leo HL, Biwas A, Mattar CN, Yap CH.

Am J Physiol Heart Circ Physiol. 2016 Dec 1;311(6):H1498-H1508. doi: 10.1152/ajpheart.00400.2016.

  1. Fetal Heart Size: A Comparison Between the Point-to-Point Trace and Automated Ellipse Methods Between 20 and 40 Weeks’ Gestation.

DeVore GR, Tabsh K, Polanco B, Satou G, Sklansky M.

J Ultrasound Med. 2016 Dec;35(12):2543-2562.

  1. Aorto-pulmonary calcification in twin-twin transfusion: Successful heart surgery.

Inamura N, Hira S, Iwai S.

Pediatr Int. 2016 Dec;58(12):1375-1376. doi: 10.1111/ped.13106. No abstract available.

  1. Prediction of neonatal outcome of TTTS by fetal heart and Doppler ultrasound parameters before and after laser treatment.

Delabaere A, Leduc F, Reboul Q, Fuchs F, Wavrant S, Fouron JC, Audibert F.

Prenat Diagn. 2016 Dec;36(13):1199-1205. doi: 10.1002/pd.4956.

  1. Anatomically corrected malposed great arteries misdiagnosed as transposition of great arteries: Diagnosis on fetal echocardiography.

Kumar V, Shah S.

Ann Pediatr Cardiol. 2016 Sep-Dec;9(3):263-4. doi: 10.4103/0974-2069.18912

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