Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities

Abstract

Hajdu‐Cheney syndrome is an ultra‐rare autosomal dominant disorder caused by a heterozygous variant in NOTCH2 gene. Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems. Here, we present the first reported case of an African child with a variant in NOTCH2 gene and features of Hajdu‐Cheney syndrome in whom we detected a congenital heart defect that has not been previously reported in association with the syndrome. To appropriately characterize this disease and document correct proportion of cardiovascular malformation associations, echocardiography is recommended for all cases of Hajdu Cheney syndrome.

A case of safe airway management by fiber-optic nasotracheal intubation in general anesthesia in a pediatric patient with Hajdu-Cheney syndrome: a case report

“…Patients with HCS may also have congenital heart disease such as ASD, ventricular septal defect, and patent ductus arteriosus, and echocardiography is recommended for these patients [ 13 ]. Our patient was diagnosed with ASD as an infant but had spontaneous closure at age 8 years.…”