Marfan Syndrome - Causes and Signs Marfan Syndrome

Types of Marfan syndrome

Specialists, based on the number of affected systems, distinguish the following forms of this syndrome:

• erased - disorders develop in one or two systems, and the symptoms are weakly expressed;
• pronounced - lesions affect three or more systems. Symptoms are more pronounced;
• neonatal form - the development of classic symptoms is characteristic already at birth. With this form of the disease, progressive heart failure is observed, which is the main cause of death during the first year of a child's life.

This syndrome has varying severity of disorders:

• mild;
• moderate;
• severe.

By the nature of the course, Marfan syndrome is:

• progressive;
• stable.

Causes

The main reason that causes the development of this syndrome is mutations in the genes that encode the synthesis of fibrillin-1, a glycoprotein and is pleiotropic. Fibrillin is a protein of the intercellular matrix, which gives contractility and elasticity to connective tissue. As a result of the mutation, the formation of fibrous structures is disrupted, which leads to a loss of elasticity and strength of connective tissue.

The reasons that can contribute to the development of this syndrome:

• heredity (inherited in an autosomal dominant manner);
• various mutations (more than 1000 types) in the FBN1 gene (responsible for the synthesis of fibrillin);
• various mutations of the gene that transforms the growth factor - TGFBR-2;
• genetic predisposition;
• age of the father (this syndrome may appear in a child if his father is over 35 years old).

Symptoms

Symptoms that are characteristic of this syndrome:

• various forms of connective tissue dysplasia;
• subluxation of the lens;
• pronounced myopia;
• increased risk of retinal detachment;
• arachnodactyly;
• dolichostenomelia;
• various spinal deformities (lordosis, scoliosis, hyperkyphosis);
• deformity develops in the anterior wall of the sternum ("chicken breast");
• flat foot;
• hypermobility of joints;
• underdevelopment of the acetabulum;
• high Gothic palate;
• congenital contractures of the fingers and elbows;
• muscle hypotension;
• mitral valve prolapse;
• aortic root dilation;
• dissecting aortic aneurysm;
• striae on the skin in the chest, shoulders, and lower back;
• narrowing of the lumbosacral nerve canal;
• cystic formations in the kidneys and liver;
• tall stature (about 2 meters);
• disproportionate torso;
• short torso;
• asthenic build;
• thin and elongated limbs;
• long and spider-like fingers;
• muscular dystrophy;
• underdevelopment of subcutaneous tissue;
• anomalies in the structure of various joints (hip);
• frequent ligament ruptures;
• hypermobility of joints;
• dislocations of the cervical spine;
• deep-set eyes;
• reduced lower jaw;
• impaired tooth growth;
• inguinal hernia;
• tachycardia;
• atrial fibrillation;
• heart failure;
• strabismus;
• complete loss is possible vision;
• stretching of the dura mater;
• lumbosacral meningocele;
• spontaneous pneumothorax is possible;
• respiratory failure;
• ectopic kidneys;
• deformation of the bladder;
• deformation of the genitals;
• varicose veins.

This syndrome may be accompanied by a high release of adrenaline, which can lead to hyperactivity and constant nervous excitement. Sometimes extraordinary abilities and mental giftedness may manifest.

The most severe disorders develop in the cardiovascular system, which often lead to premature death (especially in infants).

Since this syndrome is polymorphic, its course may be with various manifestations of the clinical picture. Also characteristic is the formation of new types of mutations in the above-mentioned genes. Depending on the mutations, certain symptoms develop.

Diagnostics

If you suspect the development of this syndrome, you must make an appointment with a therapist or pediatrician. A consultation with a cardiologist and ophthalmologist is also necessary. The doctor will take an anamnesis and conduct an initial survey.

Tests that can be used to diagnose this disease:

• electrocardiography;
• echocardiography;
• ophthalmoscopy;
• X-ray examination;
• molecular genetic analysis;
• laboratory tests;
• phenotypic diagnostic tests;
• magnetic resonance imaging;
• aortography.

Treatment

Treatment of this syndrome consists of supporting the functions of blood vessels and the heart. Antiarrhythmic and adrenergic blocking drugs are also prescribed. It is possible to perform surgical treatment of the surgeon's heart.

Without adequate treatment, the life expectancy of patients with this syndrome is about 40 years. Most often, death occurs from congestive heart failure, as well as from a dissecting aortic aneurysm. With timely treatment, this disease can be successfully treated and they can live to old age.

Prevention

Prevention has not been developed.