Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized

tortuosity Tortuosity is widely used as a critical parameter to predict transport properties of porous media, such as rocks and soils. But unlike other standard microstructural properties, the concept of tortuosity is vague with multiple definitions and vari ...

of the major

arteries An artery (plural arteries) () is a blood vessel in humans and most animals that takes blood away from the heart to one or more parts of the body (tissues, lungs, brain etc.). Most arteries carry oxygenated blood; the two exceptions are the pu ...

including the

aorta The aorta ( ) is the main and largest artery in the human body, originating from the left ventricle of the heart and extending down to the abdomen, where it splits into two smaller arteries (the common iliac arteries). The aorta distributes ...

. It is associated with hyperextensible

skin Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation. Other cuticle, animal coverings, such as the arthropod exoskeleton, have diffe ...

and hypermobility of

joint A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw ...

s, however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease.

Signs and symptoms

Among the signs and symptoms demonstrated, by this condition are the following: *

Arachnodactyly Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the ...

* Congenital diaphragmatic hernia * Mental dysfunction * Keratoconus *

Aortic regurgitation Aortic regurgitation (AR), also known as aortic insufficiency (AI), is the leaking of the aortic valve of the heart that causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. As a conseq ...

Blepharophimosis Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. Both the vertical and horizontal palpebral fissures (eyelid openings) are shortene ...

Genetics

Human male karyotpe high resolution - Chromosome 20 cropped

Arterial tortuosity syndrome exhibits

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in au ...

recessive 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 t ...

inheritance, and the responsible gene is located at chromosome 20q13. The gene associated with arterial tortuosity syndrome is SLC2A10 and has no less than 23 mutations in those individuals found to have the aforementioned condition.

Pathophysiology

The mechanism of this condition is apparently controlled by(or due to) the SLC2A10 gene.update 2014 The molecular genetic pathogenesis finds that SLC2A10 encodes GLUT10(in

nuclear membrane The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes that in eukaryotic cells surround the nucleus, which encloses the genetic material. The nuclear envelope consists of two lipid bilayer membra ...

, or the

endoplasmic reticulum The endoplasmic reticulum (ER) is, in essence, the transportation system of the eukaryotic cell, and has many other important functions such as protein folding. It is a type of organelle made up of two subunits – rough endoplasmic reticulum ( ...

, the later of which

GLUT10 Solute carrier family 2, facilitated glucose transporter member 10 is a protein that in humans is encoded by the ''SLC2A10'' gene. SLC2A10 is a member of the facilitative glucose transporter family, which plays a significant role in maintaining gl ...

transports

DHA DHA, Dha and dha may refer to: Chemicals * Docosahexaenoic acid, a 22:6 omega-3 fatty acid * Dehydroandrosterone, an endogenous androgenic steroid * Dehydroascorbic acid, an oxidized form of ascorbic acid * Dehydroacetic acid, a pyrone derivati ...

into).Clinically speaking, according to one review, the condition of ''tortuosity'' is seen more with the advance of age.

Diagnosis

In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing, as well as the following listed below: * CT *

MRI Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to form pictures of the anatomy and the physiological processes of the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves ...

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 th ...

* Physical exam(for specific characteristics)

Treatment

The treatment of arterial tortuosity syndrome entails possible surgery for

aortic aneurysms An aortic aneurysm is an enlargement (dilatation) of the aorta to greater than 1.5 times normal size. They usually cause no symptoms except when ruptured. Occasionally, there may be abdominal, back, or leg pain. The prevalence of abdominal aortic ...

, as well as, follow ups which should consist of

ECG Electrocardiography is the process of producing an electrocardiogram (ECG or EKG), a recording of the heart's electrical activity. It is an electrogram of the heart which is a graph of voltage versus time of the electrical activity of the hear ...

. The prognosis of this condition has it at about 12% mortality

References

External links

{{Medicine Autosomal recessive disorders Syndromes affecting the eye Membrane transport protein disorders Syndromes affecting the cornea Syndromes affecting the aorta Rare genetic syndromes