Isolated innominate artery in 22q11 microdeletion

Area of Science:

• Cardiovascular Medicine
• Medical Genetics
• Developmental Biology

Background:

• Congenital heart defects and aortic arch anomalies are significant clinical concerns.
• Chromosome 22q11.2 deletion syndrome is a common genetic disorder associated with various congenital anomalies, including cardiovascular malformations.
• Aortic arch variations, such as cervical aortic arch and aberrant innominate artery, have distinct embryological origins.

Observation:

• A case presentation of a patient with an isolated left innominate artery and a right-sided cervical aortic arch is detailed.
• This specific combination of aortic arch anomalies has not been previously reported in association with chromosome 22q11.2 deletion syndrome.
• The observed aortic arch abnormality represents an unusual interruption of the primitive aortic arch development.

Findings:

• The study identifies a novel association between a specific aortic arch anomaly (isolated left innominate artery with right-sided cervical aortic arch) and chromosome 22q11.2 microdeletion.
• This case demonstrates an atypical vascular phenotype within the spectrum of anomalies linked to 22q11.2 deletion syndrome.
• The findings suggest that the embryological mechanisms underlying aortic arch development in 22q11.2 deletion syndrome may be more diverse than previously understood.

Implications:

• This report expands the known phenotypic spectrum of chromosome 22q11.2 microdeletion, particularly regarding vascular anomalies.
• Understanding such atypical presentations is crucial for accurate diagnosis, genetic counseling, and clinical management of affected individuals.
• Further research into the genetic and developmental pathways of aortic arch formation in the context of 22q11.2 deletion syndrome is warranted.