Hajdu-Cheney syndrome with atypical cardiovascular abnormalities

Area of Science:

• Genetics and Rare Diseases
• Pediatric Cardiology
• Skeletal Dysplasias

Background:

• Hajdu-Cheney syndrome is an ultra-rare autosomal dominant disorder.
• It is characterized by osteolysis, distinct facial features, skull deformity, joint laxity, osteoporosis, and short stature.
• Associated abnormalities include congenital heart disease, kidney defects, and neurological issues.

Observation:

• This report details the first documented case of Hajdu-Cheney syndrome in an African child with a NOTCH2 gene variant.
• The patient exhibited characteristic features of the syndrome.
• A congenital heart defect, not previously associated with Hajdu-Cheney syndrome, was identified.

Findings:

• A novel congenital heart defect was observed in an African child with Hajdu-Cheney syndrome.
• This finding expands the known spectrum of cardiovascular malformations linked to NOTCH2 variants.
• The case underscores the genetic heterogeneity and phenotypic variability of Hajdu-Cheney syndrome.

Implications:

• Echocardiography is recommended for all Hajdu-Cheney syndrome cases to accurately diagnose cardiovascular malformations.
• This case contributes to a better understanding of the prevalence of heart defects in Hajdu-Cheney syndrome.
• Early detection and characterization of cardiac anomalies are crucial for patient management.