Cantú syndrome

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Cantú syndrome
Cardiomegalia.JPG
Cardiomegaly (x-ray)- one of the characteristics of Contu syndrome
Causes Mutation in ABCC9 gene[1]
Diagnostic method Echocardiogram, X-ray[2]
Treatment Scoliosis is managed via bracing[3]

Cantú syndrome (hypertrychotic osteochondrodysplasia)[4] is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.[5][3] 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.[3]

Signs and symptoms[edit]

Heart/patent ductus arteriosus

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.[6]

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.[medical citation needed]

Cause[edit]

Cantu syndrome apparently is inherited in an autosomal dominant fashion[7] and appears to be affected by the ABCC9 gene[1]

Mechanism[edit]

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[8]) causes inhibition of voltage-gated potassium channels and contraction of smooth muscle(in ductus)[9]

Diagnosis[edit]

Medical personnel perform echocardiogram

This condition can be diagnosed by genetic testing.[10] Furthermore, an echocardiogram and X-ray may help in the diagnosis.[2]

Differential diagnosis[edit]

The differential diagnosis of this condition consists of:[3]

Treatment[edit]

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.[3]

See also[edit]

References[edit]

  1. ^ a b Reference, Genetics Home. "ABCC9 gene". Genetics Home Reference. Retrieved 23 March 2017. 
  2. ^ a b Kirk, Edwin P.; Scurr, Ingrid; van Haaften, Gijs; van Haelst, Mieke M.; Nichols, Colin G.; Williams, Maggie; Smithson, Sarah F.; Grange, Dorothy K. (2017-04-01). "Clinical utility gene card for: Cantú syndrome". European Journal of Human Genetics. 25 (4). doi:10.1038/ejhg.2016.185. ISSN 1018-4813. 
  3. ^ a b c d e Grange, Dorothy K.; Nichols, Colin G.; Singh, Gautam K. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Ledbetter, Nikki; Mefford, Heather C., eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle. PMID 25275207. Initial posting 2014
  4. ^ "OMIM Entry - # 239850 - CANTU SYNDROME". omim.org. Retrieved 2017-04-01. 
  5. ^ Engels H, Bosse K, Ehrbrecht A, et al. (August 2002). "Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations". Am. J. Med. Genet. 111 (2): 205–9. doi:10.1002/ajmg.10560. PMID 12210352. 
  6. ^ "Cantu syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-03-31. 
  7. ^ Reference, Genetics Home. "Cantú syndrome". Genetics Home Reference. Retrieved 2017-03-23. 
  8. ^ Pubchem. "Prostaglandin E2 | C20H32O5 - PubChem". pubchem.ncbi.nlm.nih.gov. Retrieved 2017-04-01. 
  9. ^ Nichols, Colin G.; Singh, Gautam K.; Grange, Dorothy K. (2013-03-29). "KATP channels and cardiovascular disease: Suddenly a syndrome". Circulation Research. 112 (7): 1059–1072. doi:10.1161/CIRCRESAHA.112.300514. ISSN 0009-7330. PMC 3660033Freely accessible. PMID 23538276. 
  10. ^ "Hypertrichotic osteochondrodysplasia - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-04-01. 

Further reading[edit]

External links[edit]

Classification
External resources