Cantú syndrome

Signs and symptoms

The main features of this condition are hypertrichosis, osteochondrodysplasia, and cardiomegaly. There is also a characteristic facies. Other features 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

Cantú syndrome apparently is inherited in an autosomal dominant fashion and appears to be affected by the ABCC9 gene. ABCC9 gene provides a blueprint for creating the sulfonylurea receptor 2 in the human body.

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 O2 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.

Differential diagnosis

The differential diagnosis of this condition consists of the following:

• 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.

History

This condition was described in 1982 by Cantú et al.

References

References

1. "OMIM Entry - # 239850 - CANTU SYNDROME".
2. (August 2002). "Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet..
3. Grange, Dorothy K.. (1993-01-01). "GeneReviews". University of Washington, Seattle.
4. "Cantu syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
5. Grange, Dorothy K.. (2019). "Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry". American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
6. García-Cruz, Diana. (2011-01-20). "Cantu syndrome and lymphoedema". Clinical Dysmorphology.
7. Scurr, Ingrid. (2011). "Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype". American Journal of Medical Genetics Part A.
8. Reference, Genetics Home. "Cantú syndrome".
9. Reference, Genetics Home. "ABCC9 gene".
10. Cooper, Paige E.. (2014). "Cantú Syndrome Resulting from Activating Mutation in the 8 Gene". Human Mutation.
11. GeneCards Human Gene Database. "KCNJ8 Gene - GeneCards {{!}} KCNJ8 Protein {{!}} KCNJ8 Antibody".
12. McClenaghan, Conor. (2020-03-02). "Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity". The Journal of Clinical Investigation.
13. Pubchem. "Prostaglandin E2 {{!}} C20H32O5 - PubChem".
14. Nichols, Colin G.. (2013-03-29). "KATP channels and cardiovascular disease: Suddenly a syndrome". Circulation Research.
15. "Hypertrichotic osteochondrodysplasia - Conditions - GTR - NCBI".
16. Kirk, Edwin P.. (2017-04-01). "Clinical utility gene card for: Cantú syndrome". European Journal of Human Genetics.
17. Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Hernandez A, Nazara Z (1982) A distinct osteochondrodysplasia with hypertrichosis--individualization of a probable autosomal recessive entity. Hum Genet 60: 36-41