Prenatal ultrasound diagnostics of atrioventricular communication in combination with the tetralogy of Fallot in a fetus with Down's syndrome phenotype
Keywords:ultrasound prenatal diagnostics, congenital heart, atrioventricular communication, tetralogy of Fallot, Down's syndrome
This article presents a description of our own case of ultrasound prenatal diagnostics of complex combined heart disease (complete atrioventricular communication in combination with tetralogy of Fallot) at 19–20 weeks of gestation with ultrasound markers of Down's syndrome in fetus. Pregnancy termination was performed at 21 weeks. Prenatal diagnosis was fully confirmed at the fetus autopsy.
This publication discusses the frequency, mechanism of occurrence of such a combination of congenital heart defects, prenatal management, methods, timing and efficiency of surgical correction after birth. Complete atrioventricular communication occurs in approximately 1.7–2% patients with tetralogy of Fallot, and tetralogy of Fallot occurs in 5–10% of patients with atrioventricular communication, most often in patients with Down's syndrome. It is believed that tetralogy of Fallot and a complete defect of the atrioventricular septum develop as a result of different mechanisms, but their joint occurrence
is recognized as an association. The prevalence of such a combination in Down syndrome indicates the general foundations of its development.
Sonographic diagnosis of atrioventricular communication and tetralogy of Fallot is usually not difficult for prenatal screening. Main diagnostic criteria for complete atrioventricular communication at routine ultrasound screening and targeted fetal echocardiography are an abnormal 4-chamber image of the heart in the form of a common atrioventricular junction and a common five-leafed atrioventricular valve. Typical prenatal sonographic signs of the tetralogy of Fallot are a high defect of the interventricular septum, expansion of the aortic root, displacement of the aorta forward and to the right, narrowing of the pulmonary artery at the level of the valve ring from minor to complete atresia, it is also possible reduction the size of the right ventricle and increasing the size of the left ventricle.
The combination of atrioventricular communication with the tetralogy of Fallot refers to severe congenital heart defects requiring surgical correction.
- Marelli, A.J., Mackie, A.S., Ionescu-Ittu, R., et al. “Congenital Heart Disease in the General Population Changing Prevalence and Age Distribution.” Circulation 115 (2007): 163–72.
- Bankle, G. Congenital heart disease and large vessels. Moscow. Medicine (1980).
- Abuhamad, A., Chaoui, R. A Practical Guide to Fetal Echocardiography. 2nd ed. Philidelphia: Lippincott Williams and Wilkins (2010).
- Robinson, S.W., Morris, C.D., Goldmuntz, E., et al. “Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.” Am J Hum Genet 72.4 (2003): 1047–52.
- Stoll, C., Dott, B., Alembik, Y., Roth, M.-P. “Associated congenital anomalies among cases with Down syndrome.” Eur J Med Genet 58.12 (2015): 674–80.
- Craig, B. “Atrioventricular septal defect: from fetus to adult.” Heart 92.12 (2006): 1879–85.
- Shapoval, L.A., Kurkevich, A.K. “The Role of Fetal Echocardiography in Determining the Prognosis for the Fetus with Complete Atrioventricular Septal Defect.” Modern Pediatrics 2.98 (2019): 12–17.
- Nguyen, H.H., Jay, P.Y. “A single misstep in cardiac development explains the cooccurrence of tetralogy of Fallot and complete atrioventricular septal defect in Down syndrome.” J Pediatr 165.1 (2014): 194–6.
- Kloesel, B., DiNardo, J.A., Body, S.C. “Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease.” Anesth Analg 123.3 (2016): 551–69.
- Bertrand, N., Roux, M., Ryckebusch, L., et al. “Hox genes define distinct progenitor sub-domains within the second heart field.” Dev Biol 353 (2011): 266–74.
- Anderson, R.H., Spicer, D.E., Giroud, J.M., Mohun, T.J. “Tetralogy of Fallot: nosological, morphological, and morphogenetic considerations.” Cardiol Young 23 (2013): 857–65.
- Briggs, L.E., Phelps, A.L., Brown, E., et al. “Expression of the BMP receptor Alk3 in the second heart field is essential for development of the dorsal mesenchymal protrusion and atrioventricular septation.” Circ Res 112 (2013): 1420–32.
- Alhawri, K.A., Mcmahon, C.J., Alrih, M.M., et al. “Atrioventricular septal defect and tetralogy of Fallot – A single tertiary center experience: A retrospective review.” Ann Pediatr Card 12 (2019): 103–9.
- Shuhaiber, J.H., Robinson, B., Gauvreau, K., et al. “Outcome after repair of atrioventricular septal defect with tetralogy of Fallot.” J Thorac Cardiovasc Surg 143 (2012): 338–43.
- Holland, B.J., Myers, J.A., Woods, C.R. “Prenatal diagnosis of critical congenital heart disease reduces risk of death from cardiovascular compromise prior to planned neonatal cardiac surgery: a meta-analysis.” Ultrasound Obstet Gynecol 45 (2015): 631–8.
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