Aortic Arch Anomalies and Vascular Compression Syndromes

Congenital malformations of the aortic arch arise from disrupted development of the pharyngeal arch arteries during early embryogenesis. Common variants include double aortic arch, right aortic arch with aberrant subclavian artery and isolated aberrant right subclavian artery. These anomalies may form a complete or partial vascular ring around the trachea and oesophagus, leading to respiratory distress, stridor, dysphagia and recurrent respiratory infections. Prenatal detection through advanced ultrasound and three-dimensional fetal cardiovascular magnetic resonance has increased diagnostic accuracy, allowing multidisciplinary planning. Postnatal assessment typically involves computed tomography angiography or magnetic resonance angiography to define the anatomy and guide surgical decision-making. Genetic testing, particularly chromosomal microarray analysis, reveals a subset of cases associated with copy number variants such as 22q11.2 deletion syndrome. Management strategies range from conservative observation in asymptomatic individuals to surgical division of the ring or resection of atretic segments in those with significant compression, with the majority of operated patients experiencing symptomatic relief and favourable long-term outcomes.

Research from Nature Portfolio

Recent work has investigated the relationship between isolated vascular variants and underlying chromosomal anomalies. A large cohort study of fetuses diagnosed with aberrant right subclavian artery assessed karyotype and chromosomal microarray in parallel. It demonstrated that isolated findings carry a low yield for chromosomal abnormalities, whereas cases accompanied by additional ultrasound anomalies show a markedly increased rate of clinically significant copy number variants, notably 22q11.2 deletion and trisomy 21. These results have informed refined guidelines for prenatal genetic counselling and have underlined the value of chromosomal microarray analysis in non-isolated presentations.

Aortic Arch Anomalies and Vascular Compression Syndromes publication trend

The graph below shows the total number of articles in aortic arch anomalies and vascular compression syndromes across all publications each year (not limited to Nature Index journals).

Technical terms

Aortic arch anomaly: Congenital deviation from normal aortic arch anatomy arising from embryonic vascular development disturbances.

Double aortic arch: A vascular ring formed by persistence of both right and left fourth pharyngeal arch arteries encircling the trachea and oesophagus.

Aberrant right subclavian artery (ARSA): A variant in which the right subclavian artery arises distal to the left subclavian artery and passes behind the oesophagus.

Vascular ring: A circumferential arrangement of vascular structures around the trachea and/or oesophagus causing compression.

Chromosomal microarray analysis (CMA): A genomic technique for detecting submicroscopic chromosomal copy number variations associated with congenital anomalies.

Computed tomography angiography (CTA): A radiological imaging method that uses contrast-enhanced CT to visualise vascular anatomy in three dimensions.

References

1. Double aortic arch: a comparison of fetal cardiovascular magnetic resonance, postnatal computed tomography and surgical findings. Journal of Cardiovascular Magnetic Resonance (2024).
2. Prenatal genetic analysis of fetal aberrant right subclavian artery with or without additional ultrasound anomalies in a third level referral center. Scientific Reports (2023).
3. Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch. Diagnostics (2024).
4. Long term respiratory morbidity in patients with vascular rings: a review. Italian Journal of Pediatrics (2023).