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

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.