Aortic Arch Anomaly – Causes, Symptoms and Treatment

What Is an Aortic Arch Anomaly?

An aortic arch anomaly is a congenital malformation involving the aortic arch – the curved portion of the aorta (the body´s main artery) that rises from the heart, arches over, and descends into the body. These malformations develop during embryonic development when the vascular structures fail to form or regress correctly. Depending on the type of anomaly, surrounding structures such as the trachea (windpipe), esophagus (food pipe), or major nerve pathways may become compressed or displaced.

Causes

Aortic arch anomalies arise from disruptions in embryonic vascular development, most commonly between the 4th and 8th weeks of pregnancy. During this period, a series of vascular structures (pharyngeal arch arteries) normally remodel into the definitive cardiovascular anatomy. When a vessel that should regress persists, or a necessary vessel fails to develop, various anomalies can result.

• Genetic factors: Chromosomal abnormalities such as 22q11 deletion (DiGeorge syndrome) are frequently associated with aortic arch anomalies.
• Environmental factors: Maternal infections, certain medications, or poorly controlled diabetes during pregnancy may increase risk.
• Multifactorial origin: In many cases, a combination of genetic predisposition and environmental influences is responsible.

Common Types of Aortic Arch Anomaly

Double Aortic Arch

In a double aortic arch, two complete aortic arches are present, forming a complete vascular ring around both the trachea and esophagus. This is the most common symptomatic aortic arch anomaly and can cause significant breathing difficulties and swallowing problems.

Right Aortic Arch

Normally, the aortic arch curves to the left. In a right aortic arch, it curves to the right instead. Depending on the associated vessels, a vascular ring may or may not be formed.

Aberrant Subclavian Artery

An aberrant subclavian artery – most commonly an aberrant right subclavian artery, also known as the arteria lusoria – courses behind the esophagus and can compress it. This is one of the most common aortic arch anomalies, occurring in approximately 0.5–1% of the general population.

Pulmonary Artery Sling

In this rare malformation, the left pulmonary artery originates from the right pulmonary artery and passes between the trachea and esophagus, potentially causing severe airway compression.

Symptoms

Symptoms vary greatly depending on the type and severity of the anomaly. Many individuals have no or minimal symptoms, while others – particularly infants and young children – may present with significant clinical signs.

• Breathing problems: Stridor (a high-pitched breathing sound), chronic cough, recurrent respiratory infections, and shortness of breath
• Swallowing difficulties (dysphagia): Especially with solid foods; when caused by a vascular anomaly, this is termed dysphagia lusoria
• Regurgitation: Gagging or vomiting in infants and toddlers
• Failure to thrive: Poor weight gain in infants due to pain or difficulty feeding
• Increased susceptibility to infections: Recurrent pneumonia due to aspiration or airway obstruction

Diagnosis

The diagnosis of an aortic arch anomaly is established through various imaging techniques:

• Echocardiography: Ultrasound examination of the heart and great vessels; often the first diagnostic step in children
• CT angiography (CTA): Provides detailed three-dimensional visualization of vascular anatomy and is frequently considered the gold standard
• Magnetic resonance imaging (MRI): A radiation-free alternative to CT, particularly suitable for pediatric patients
• Bronchoscopy: Endoscopic examination of the airways when tracheal compression is suspected
• Esophagography: Contrast X-ray study of the esophagus to detect external compression

Treatment

Not all aortic arch anomalies require treatment. Asymptomatic findings are often monitored. However, when symptoms are clinically significant, surgical correction is usually necessary.

Surgical Treatment

Surgery is the treatment of choice for symptomatic anomalies. The goal is to relieve the vascular ring or correct the abnormal vessel. The procedure is typically performed in infancy or early childhood and has excellent outcomes at specialized centers. Depending on the type of anomaly, the following approaches may be used:

• Division and ligation of the smaller arch in double aortic arch
• Relocation or reimplantation of aberrant vessels
• Cardiopulmonary bypass for complex malformations

Interventional and Conservative Management

In selected cases, minimally invasive catheter-based techniques may be applicable. Conservative measures – such as dietary modifications for mild swallowing difficulties – can help manage symptoms but do not correct the underlying structural defect.

Prognosis

The prognosis following surgical correction is excellent for most aortic arch anomalies. Many children are completely free of symptoms after the procedure. Early diagnosis and timely treatment generally prevent permanent damage to the trachea or esophagus. The presence of associated heart defects or genetic syndromes may influence the overall prognosis.

References

1. Kellenberger CJ. Aortic arch malformations. Pediatric Radiology. 2010;40(6):876–884. DOI: 10.1007/s00247-010-1610-4
2. Edwards JE. Anomalies of the derivatives of the aortic arch system. Medical Clinics of North America. 1948;32(4):925–949.
3. Lowe GM, Donaldson JS, Backer CL. Vascular rings: 10-year review of imaging. RadioGraphics. 1991;11(4):637–646. DOI: 10.1148/radiographics.11.4.1887121