Cantú syndrome is a rare condition characterized by

hypertrichosis Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. ...

osteochondrodysplasia Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone ("osteo") and cartilage ("chondro"). Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. No ...

, and

cardiomegaly Cardiomegaly (sometimes megacardia or megalocardia) is a medical condition in which the heart is enlarged. As such, it is more commonly referred to simply as "having an enlarged heart". It is usually the result of underlying conditions that make t ...

.Initial posting 2014 Less than 50 cases have been described in the literature; they are associated with a mutation in the ''

ABCC9 ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ''ABCC9'' gene. Function The protein encoded by this gene is a member of ...

''-gene that codes for the ABCC9-protein.

Signs and symptoms

The main features of this condition are

, and

. There is also a characteristic

facies In geology, a facies ( , ; same pronunciation and spelling in the plural) is a body of rock with specified characteristics, which can be any observable attribute of rocks (such as their overall appearance, composition, or condition of formatio ...

. Other features include

patent ductus arteriosus ''Patent ductus arteriosus'' (PDA) is a medical condition in which the '' ductus arteriosus'' fails to close after birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs by flowing from the aorta, which h ...

, congenital hypertrophy of the left ventricle, and

pericardial effusion A pericardial effusion is an abnormal accumulation of fluid in the pericardial cavity. The pericardium is a two-part membrane surrounding the heart: the outer fibrous connective membrane and an inner two-layered serous membrane. The two layers of ...

s. Neurodevelopmental outcome appears normal, but obsessive traits and

anxiety Anxiety is an emotion which is characterized by an unpleasant state of inner turmoil Turmoil may refer to: * ''Turmoil'' (1984 video game), a 1984 video game released by Bug-Byte * ''Turmoil'' (2016 video game), a 2016 indie oil tycoon video ...

have been reported. It may also be associated with recurrent infections with low

immunoglobulin An antibody (Ab), also known as an immunoglobulin (Ig), is a large, Y-shaped protein used by the immune system to identify and neutralize foreign objects such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the ...

levels and gastric bleeding, and additional possible associations include

lymphoedema Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized swelling caused by a compromised lymphatic system. The lymphatic system functions as a critical portion of the body's immune system and returns interstitial fl ...

and

heterochromia iridis Heterochromia is a variation in coloration. The term is most often used to describe color differences of the iris, but can also be applied to color variation of hair or skin. Heterochromia is determined by the production, delivery, and concent ...

Cause

Cantú syndrome apparently is inherited in an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...

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. The gene is located on short arm of

chromosome 12 Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the t ...

(12p12). Mutations in another gene (

KCNJ8 Potassium inwardly-rectifying channel, subfamily J, member 8, also known as KCNJ8, is a human gene encoding the Kir6.1 protein. A mutation in KCNJ8 has been associated with cardiac arrest in the early repolarization syndrome. Potassium channels a ...

) has also been associated with this disorder. Both genes encode in ATP sensitive potassium (KATP) channel subunits. This second gene is also located on the short arm of chromosome 12 (12p12.1).

Mechanism

In terms of the mechanism of Cantú syndrome, mutations in the ''ABCC9'' gene total 25/31. Physiologically,

sulfonylurea receptor In molecular biology, the sulfonylurea receptors (SUR) are membrane proteins which are the molecular targets of the sulfonylurea class of antidiabetic drugs whose mechanism of action is to promote insulin release from pancreatic beta cells. More ...

2 is significant in

vascular Blood vessels are the structures of the circulatory system that transport blood throughout the human body. These vessels transport blood cells, nutrients, and oxygen to the tissues of the body. They also take waste and carbon dioxide away from ...

relaxation. An increase in O² tension after birth, plus decreasing

PGE2 Prostaglandin E2 (PGE2), also known as dinoprostone, is a naturally occurring prostaglandin with oxytocic properties that is used as a medication. Dinoprostone is used in labor induction, bleeding after delivery, termination of pregnancy, an ...

(a common prostaglandin) causes inhibition of voltage-gated

potassium Potassium is the chemical element with the symbol K (from Neo-Latin '' kalium'') and atomic number19. Potassium is a silvery-white metal that is soft enough to be cut with a knife with little force. Potassium metal reacts rapidly with atmosp ...

channels and contraction of

smooth muscle Smooth muscle is an involuntary non- striated muscle, so-called because it has no sarcomeres and therefore no striations (''bands'' or ''stripes''). It is divided into two subgroups, single-unit and multiunit smooth muscle. Within single-unit ...

(in ductus).

Diagnosis

US Navy 110718-N-QD416-015 Medical personnel perform an echocardiogram on a patient

This condition can be diagnosed by

genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...

. Furthermore, an

echocardiogram An echocardiography, echocardiogram, cardiac echo or simply an echo, is an ultrasound of the heart. It is a type of medical imaging of the heart, using standard ultrasound or Doppler ultrasound. Echocardiography has become routinely used in ...

and X-ray may help in the diagnosis.

Differential diagnosis

The differential diagnosis of this condition consists of the following: *

Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This r ...

* Beckwith-Wiedemann syndrome *

Berardinelli-Seip congenital lipodystrophy Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystophy disord ...

Treatment

The treatment/management for Cantú syndrome is based on

surgical Surgery ''cheirourgikē'' (composed of χείρ, "hand", and ἔργον, "work"), via la, chirurgiae, meaning "hand work". is a medical specialty that uses operative manual and instrumental techniques on a person to investigate or treat a pa ...

option for patent ductus arteriosus in early life and management of

scoliosis Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...

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''.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

References

External links

{{DEFAULTSORT:Cantu syndrome Genodermatoses Rare syndromes Syndromes affecting the heart