# Tetralogy of Fallot with vertebral defect and left aberrant subclavian artery: a rare occurrence

**Authors:** Marya Hameed, Muhammad Fazal Hussain Qureshi

PMC · DOI: 10.1186/s43044-024-00454-w · The Egyptian Heart Journal · 2024-02-20

## TL;DR

This paper presents a rare case of Tetralogy of Fallot in a 3-week-old girl with additional aortic arch and vertebral abnormalities.

## Contribution

The first reported case of TOF with left aberrant subclavian artery and vertebral defect.

## Key findings

- The patient exhibited all four features of TOF along with an overriding aortic arch and left aberrant subclavian artery.
- A vertebral defect (butterfly vertebra) was also identified, adding to the complexity of the case.
- Advanced imaging was crucial for diagnosing the rare and complex condition.

## Abstract

The most prevalent cyanotic congenital heart disease is Tetralogy of Fallot (TOF). It has a variety of presentations and is made up of four anatomic abnormalities. Documented literature shows an incidence of 13–20% of a right aortic arch with an anomalous left subclavian artery among individuals diagnosed with TOF. This is the first case that discusses the rare occurrence of overriding of the aortic arch along with the left aberrant subclavian artery and vertebral defect in a 3-week-old girl. Timely identification and management are pivotal in ensuring the best possible outcomes for these young patients.

A 3-week-old female child came with complaints of dyspnea, dysphagia, fatigue, and cyanosis on extreme crying, feeding, and moderate activity. Echocardiography revealed severe pulmonary stenosis with right ventricular dilatation and ventricular septal defect (VSD); a chest computed tomography was performed that revealed four characteristic features of TOF (pulmonary artery stenosis, VSD, right aortic root deviation, and concentric right ventricular hypertrophy) along with overriding of the aortic arch accompanied with the left aberrant subclavian artery (compressing the trachea and infundibulum) and vertebral defect (butterfly vertebra).

The case of this 3-week-old female infant emphasizes the importance of early and accurate diagnosis in congenital heart diseases, particularly when faced with complex presentations such as the TOF. It serves as a testament to the valuable role of advanced diagnostic imaging techniques in unraveling the complexity of congenital heart conditions.

## Linked entities

- **Diseases:** Tetralogy of Fallot (MONDO:0008542)

## Full-text entities

- **Diseases:** left aberrant subclavian artery (MESH:C535555), fatigue (MESH:D005221), TOF (MESH:D013771), pulmonary artery stenosis (MESH:D000071079), pulmonary stenosis (MESH:D011666), right ventricular hypertrophy (MESH:D017380), butterfly vertebra (MESH:C000721270), aortic root deviation (MESH:D000094628), VSD (MESH:D006345), cyanosis (MESH:D003490), dysphagia (MESH:D003680), vertebral defect (MESH:C535781), dyspnea (MESH:D004417), congenital heart conditions (MESH:D006330), ventricular dilatation (MESH:C566255)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10879043/full.md

## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC10879043/full.md

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Source: https://tomesphere.com/paper/PMC10879043