Abstract

Cantú syndrome (hypertrychotic osteochondrodysplasia) is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. Less than 50 cases have been described in the literature; they are associated with a mutation in the "ABCC9"-gene that codes for the ABCC9-protein.

Signs and symptoms

The presentation of this condition includes a characteristic facies. The cardiac manifestations include patent ductus arteriosus, congenital hypertrophy of the left ventricle, and pericardial effusions.

Neurodevelopmental outcome appears normal, but obsessive traits and anxiety have been reported. It may also be associated with recurrent infections with low immunoglobulin levels and gastric bleeding, and additional possible associations include lymphoedema and heterochromia iridis.

Cause

Cantu syndrome apparently is inherited in an autosomal dominant fashion and appears to be affected by the "ABCC9" gene

Mechanism

In terms of the mechanism of Cantú syndrome, mutations in the "ABCC9" gene total 25/31. Physiologically, sulfonylurea receptor 2 is significant in vascular relaxation. An increase in O tension after birth, plus decreasing PGE2(a common prostaglandin) causes inhibition of voltage-gated potassium channels and contraction of smooth muscle(in ductus)

Diagnosis

This condition can be diagnosed by genetic testing. Furthermore, an echocardiogram and X-ray may help in the diagnosis.

Diagnosis | Differential diagnosis

The differential diagnosis of this condition consists of:

- Hypertrophic cardiomyopathy

- Beckwith-Wiedemann syndrome

- Berardinelli-Seip congenital lipodystrophy

Treatment

The treatment/management for Cantú syndrome is based on surgical option for patent ductus arteriosus in early life, and management of scoliosis via bracing. Furthermore, regular echocardiograms are needed for the individual who has exhibited this condition.