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Tetralogy of Fallot with absent pulmonary valve and 22q11.2 deletion syndrome

Published online by Cambridge University Press:  07 February 2025

Veronika Krasnanova Open the ORCID record for Veronika Krasnanova [Opens in a new window] ,
Peter Olejnik  and
Lubica Kovacikova
Veronika Krasnanova*
Affiliation:
Pediatric Cardiac Intensive Care Unit, Children’s Cardiac Center, National Institute of Cardiovascular Diseases, Bratislava, Slovakia
Peter Olejnik
Affiliation:
Department of Pediatric Cardiology, Children’s Cardiac Center, National Institute of Cardiovascular Diseases, Bratislava, Slovakia Department of Pediatric Cardiology, Faculty of Medicine, Comenius University, Bratislava, Slovakia
Lubica Kovacikova
Affiliation:
Pediatric Cardiac Intensive Care Unit, Children’s Cardiac Center, National Institute of Cardiovascular Diseases, Bratislava, Slovakia
*
Corresponding author:Veronika Krasnanova; Email: veronika.krasnanova@gmail.com
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Abstract

We report an uncommon case of tetralogy of Fallot with absent pulmonary valve and extreme right pulmonary artery dilatation in patient with 22q11.2 deletion syndrome.

Keywords

Absent pulmonary valve syndromeimagingCT scan22q11.2 microdeletion

Information

Type
Images in Congenital Cardiac Disease
Information
Cardiology in the Young , Volume 35 , Issue 3 , March 2025 , pp. 604 - 605
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

Tetralogy of Fallot with absent pulmonary valve syndrome and a discontinuous left pulmonary artery is a rare condition, typically accompanied by compression of the right bronchus due to the dilated right pulmonary artery.Reference Chelliah, Moon-Grady and Peyvandi 1 Its occurrence as part of 22q11.2 deletion syndrome is extremely uncommon. The primary treatment goal is the stabilisation of haemodynamic parameters and airways. We report a case of a full-term newborn with a prenatal diagnosis of tetralogy of Fallot and pulmonary artery aneurysm, who was admitted to the cardiac ICU. The patient presented with low-set, small ears, hypertelorism, a bulbous nasal tip, and a short philtrum. A continuous murmur and central cyanosis were observed. Chest radiograph revealed extreme cardiomegaly, and subsequent echocardiography confirmed the diagnosis of tetralogy of Fallot with absent pulmonary valve syndrome and dilatation of the right pulmonary artery. Due to respiratory failure, the newborn was intubated and mechanically ventilated. To verify the airway and cardiac anatomy, we performed computed tomography angiography and 3-dimensional versicolour model imaging, which delineated an extremely dilated right pulmonary artery (Figure 1) and severe right bronchus compression (Figure 2a , b ). Multiplex ligation-dependent probe amplification identified a typical deletion covering 14 genes in the region LCR22A-LCR22D, including the TBX1 gene. Given the complex CHD, severe right bronchus compression, and the presence of a genetic syndrome, the interdisciplinary medical team suggested transitioning to palliative care, and the patient died at the age of 38 days.

Figure 1.

Chest radiograph revealed extreme cardiomegaly with marked hugely dilated right pulmonary artery (delineated by white line).

Figure 2.

Computed tomography and 3-dimensional virtual versicolour model. (a) Anterior view LPA = left pulmonary artery; PDA = patent ductus arteriosus; RA = right atrium; R-AA = right-sided aortic arch; RPA = right pulmonary artery; RR = right rib; RV = right ventricle. (b) Superoposterior view, focusing on compression of the right main bronchus and right secondary bronchi) RPA = right pulmonary artery; RR = right rib; RV = right ventricle.

Author contribution

All authors contributed to the study conception and design. Material preparation was performed by Veronika Krasnanova, Lubica Kovacikova, and Peter Olejnik. The first draft of the manuscript was written by Veronika Krasnanova, and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Financial support

This research received no specific grant from any funding agency, commercial, or not-for-profit sectors.

Competing interests

None.

Ethical standard

This study was approved by the Institutional Review Board of the National Institute of Cardiovascular Diseases in Bratislava, Slovakia.

References

Chelliah, A, Moon-Grady, AJ, Peyvandi, S et al. Contemporary outcomes in tetralogy of Fallot with absent pulmonary valve after fetal diagnosis. J Am Heart Assoc 2021; 10: 019713. DOI: 10.1161/JAHA.120.019713.10.1161/JAHA.120.019713CrossRefGoogle ScholarPubMed
Figure 0

Figure 1. Chest radiograph revealed extreme cardiomegaly with marked hugely dilated right pulmonary artery (delineated by white line).

Figure 1

Figure 2. Computed tomography and 3-dimensional virtual versicolour model. (a) Anterior view LPA = left pulmonary artery; PDA = patent ductus arteriosus; RA = right atrium; R-AA = right-sided aortic arch; RPA = right pulmonary artery; RR = right rib; RV = right ventricle. (b) Superoposterior view, focusing on compression of the right main bronchus and right secondary bronchi) RPA = right pulmonary artery; RR = right rib; RV = right ventricle.