An unusual combination: aortic arch coarctation associated with Dandy-Walker variant

Area of Science:

• Cardiology
• Neurology
• Genetics

Background:

• Coarctation of the aorta is a congenital narrowing of the aorta.
• Dandy-Walker variant is a congenital brain malformation.
• Multiple congenital anomalies can present with various genetic syndromes.

Observation:

• A 29-year-old female presented with aortic arch coarctation.
• She exhibited cerebral anomalies including posterior fossa cyst, hydrocephalus, and cerebellar vermis hypoplasia.
• Additional anomalies included hirsutism, hypotelorism, short philtrum, dental irregularities, neck anomalies, scalp hypopigmentation, clinodactyly, hallux valgus, brachydactyly, and sacral hemangioma.

Findings:

• Surgical intervention involved an extra-anatomical bypass from the ascending to the distal descending aorta.
• While some features overlapped with known syndromes, genetic analysis revealed no chromosomal deletions and a normal familial pedigree.
• The cerebral anomalies were consistent with the Dandy-Walker variant.

Implications:

• This case presents a unique and previously undescribed combination of aortic coarctation, Dandy-Walker variant, and multiple congenital anomalies.
• The findings suggest the possibility of a novel, unrecognized genetic disorder.
• Further research is warranted to elucidate the underlying genetic basis and clinical spectrum of this condition.