Abstract
Tetralogy of Fallot (TOF) with concomitant absent pulmonary valve syndrome (APVS) constitutes a rare prenatal condition characterized by rudimentary cusps of the pulmonary valve, pulmonary regurgitation, and a variable degree of dilatation of the main and branch pulmonary arteries. Although early prenatal diagnosis of this complex malformation is feasible, the antenatal course of affected fetuses clearly depends on the presence of associated structural (absence of the ductus venosus) and chromosomal anomalies (microdeletion 22q11, DiGeorge syndrome). Postnatally, the outcome is closely related to the degree of airway obstruction and subsequent bronchomalacia. We describe the beneficial contribution of three- and four-dimensional ultrasound in establishing the diagnosis of TOF-APVS in a fetus at age 22 gestational weeks.
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Becker R, Schmitz L, Guschmann M, Wegner RD, Stiemer B, Entezami M (2001) Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature. Ultrasound Obstet Gynecol 17:263–267
Berg C, Thomsen Y, Geipel A, Germer U, Gembruch U (2007) Reversed end-diastolic flow in the umbilical artery at 10–14 weeks of gestation is associated with absent pulmonary valve syndrome. Ultrasound Obstet Gynecol 30:254–258
Galindo A, Gutiérrez-Larraya F, Martínez JM, Del Rio M, Grañeras A, Velasco JM et al (2006) Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve. Ultrasound Obstet Gynecol 28:32–39
Hata T, Dai SY, Inubashiri E, Kanenishi K, Tanaka H, Yanagihara T et al (2008) Four-dimensional sonography with B-flow imaging and spatiotemporal image correlation for visualization of the fetal heart. J Clin Ultrasound 36:204–207
Hraska V, Photiadis J, Schindler E, Sinzobahamvya N, Fink C, Haun C et al (2009) A novel approach to the repair of tetralogy of Fallot with absent pulmonary valve and the reduction of airway compression by the pulmonary artery. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 12:59–62
Miller RA, Lev M, Paul MH (1962) Congenital absence of the pulmonary valve. The clinical syndrome of tetralogy of Fallot with pulmonary regurgitation. Circulation 26:266–278
Moon-Grady AJ, Tacy TA, Brook MM, Hanley FL, Silverman NH (2002) Value of clinical and echocardiographic features in predicting outcome in the fetus, infant, and child with tetralogy of Fallot with absent pulmonary valve complex. Am J Cardiol 89:1280–1285
Raymond FL, Simpson JM, Mackie CM, Sharland GK (1997) Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects. J Med Genet 34:679–682
Sleurs E, De Catte L, Benatar A (2004) Prenatal diagnosis of absent pulmonary valve syndrome in association with 22q11 deletion. J Ultrasound Med 23:417–422
Van Praagh R (2009) The first Stella van Praagh memorial lecture: the history and anatomy of tetralogy of Fallot. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 12:19–38
Volpe P, Paladini D, Marasini M, Buonadonna AL, Russo MG, Caruso G et al (2004) Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet Gynecol 24:623–628
Yeager SB, Van Der Velde ME, Waters BL, Sanders SP (2002) Prenatal role of the ductus arteriosus in absent pulmonary valve syndrome. Echocardiography 19:489–493
Acknowledgment
The authors thank Dr. Y. Hellenbroich for karyotype examination and performing FISH analysis of chromosome 22.
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Video clip 1.
Three-dimensional sequence of the four-chamber view showing to-and-fro blood flow traversing the MPA. Note the aneurysmally dilated part cephalad to the left atrium. (MOV 196 kb)
Video clip 2.
B-flow sequence showing the blood volume shifted in a to-and-fro manner within the main pulmonary artery during the cardiac cycle. (MOV 96 kb)
Video clip 3.
STIC volume with high-definition flow showing dilated main and branch pulmonary arteries and the overlying aorta in a long-axis view. (MOV 139 kb)
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Hartge, D., Hoffmann, U., Schröer, A. et al. Three- and Four-Dimensional Ultrasound in the Diagnosis of Fetal Tetralogy of Fallot With Absent Pulmonary Valve and Microdeletion 22q11. Pediatr Cardiol 31, 1100–1103 (2010). https://doi.org/10.1007/s00246-010-9748-z
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DOI: https://doi.org/10.1007/s00246-010-9748-z