Holt-Oram syndrome. Hand-Heart Syndrome

Holt's syndrome - Oram - is a serious disease with an autosomal type of inheritance, which is characterized by the defeat of several genes at once. They are responsible for the anatomical structure of the heart and skeleton. This disease is called the "hand-heart" syndrome.

What it is?

This disease, inherited, combines the varying malformations of the upper limbs and congenital heart defects. It is very important to recognize the disease at the beginning of its development. To do this, carry out genetic research. They not only confirm the diagnosis, but also predict the likelihood of the disease in future generations.

Ultrasound examination during pregnancy makes it possible in time to detect abnormalities in the development of the skeleton. If the indications correspond to the signs of the disease, an intrafatal scans of the future child's heart are performed. Usually Holt-Oram syndrome is determined after the birth of the baby. Suspicious defects in the structure of the skeleton are carefully examined by the cardiologist, since the severity of the disease depends on the cardiac manifestations of the syndrome.

Birth Defects

Characteristic abnormalities in the structure of the forearm and hand, which appear on one side or both at once. Degree of underdevelopment and deformation of the limbs is different: this is the presence of three phalanges on one finger or when there are no big fingers in the hands. Most often it happens with the fingers on the left hand. There are severe cases when there is a hypoplasia of the radius or complete absence of the radius. Much less often noted: fused fingers between themselves, deformity of the sternum, underdevelopment of clavicles and scapula, curvature of the spine. Skeletal changes do not pose a threat to human life. But a violation of the functional capacity of the affected organ complicates life.

About 85% of patients suffer from congenital heart defects: constriction and open aortic duct, stenosis of the pulmonary artery, a violation of the valve structure. Often there is a congenital defect of the interatrial septum. It is different in severity: from barely discernible to a vast secondary defect, the consequence of which is heart failure.

Autosomal-dominant type of inheritance

For this disease are characterized by:

• Regular transmission of ailment from one generation to another.
• If the gene is highly manifested, the disease does not skip a generation, but can be traced to family members in each genus.
• The gene is passed from parents to children. The exception is the newly emerged cases of the disease in the family due to spontaneous mutation of the gene, which is subsequently transmitted from the sick ancestor to a healthy offspring.
• More often the disease is transmitted by one parent line.
• Not all in the family inherit the disease gene: healthy members of the family are born descendants with no signs of manifestation of the disease.

• If children have one mother, and fathers are different, or vice versa, father is one, and mothers are different, children of a common parent can inherit the disease.
• The autosomal dominant type of inheritance does not depend on the person's belonging to a particular sex. Men and women are equally affected by the disease.

Atrial septum

If a defect is observed, congenital heart disease develops, which can be isolated or combined with other diseases within the heart. Defect of the interatrial septum develops when an open communication is formed between two atria: the left and right. If a patient has Holt-Oram syndrome, he has shortness of breath, noises in the heart, fatigue and lag in physical development, pallor of the skin and frequent respiratory diseases. Congenital heart disease due to this pathology is observed in about 5-15% of patients, and in women it is twice as common as in men.

The fact that the fetus, while in the womb, has an open oval hole in the interatrial septum. It ensures normal blood circulation. After the baby is born, the hole in most newborns is closed. Although there are times when this does not happen. But the discharge of blood through this hole is so insignificant that a person does not feel anomalies and does not even suspect that she has it. He lives quietly until old age. Such hereditary anomalies, like the defect of the interatrial septum, can be of various sizes, shapes and occur in different parts of it.

Atrial atrial defects. Types

• The anomaly of the primary part of the septum is a kind of abnormal development of the pads and is localized in the lower part of its third next to the tricular valves. They, in turn, can be deformed and do not cope with the performance of the intended function. There are cases when with their help a common valve with atrioventricular septum is formed.
• At the interatrial septum there is a defect of its secondary part, which is observed at the top or in the region of the ovoid fossa. In this case, the blood in the right atrium comes from the left. Often these defects are called secondary defects and they arise in the presence of a defect in the tissue of the septum. But at the same time, the functional and anatomical patency of the defect is preserved.

Symptoms of interatrial defects

• The Holt-Oram syndrome is directly related to the patient's age, the size of the defect of the septum, the magnitude of the resistance of the pulmonary vessels. Many patients with this defect look absolutely healthy and do not complain. The fact is that blood can be discharged from left to right due to excessive physical exertion or fatigue, and not because of a defect. In the vast majority of cases, noise in the heart is not audible. This sometimes happens with a significant defect of the interatrial septum.

• This anomaly often causes the prolapse of the mitral valve. Patients with such a disease are well-audible noise or clicks.
• If the size of the defect is very large, a person has tachycardia, dyspnea, a heart hump, when the organ borders are widened to the right side. It is easy, with the help of fingers, to determine the pulsation of the pulmonary artery.
• A secondary defect of the interatrial septum in rare cases can cause heart failure. This is observed in 3-5% of patients, mainly in children up to one year. If you do not have surgery, the risk of death is great.

Atrial atrial defects. Causes

Anomalies occur when the primary or secondary septa and endocardial ridges are underdeveloped during embryonic development.

• The appearance of a defect is associated with genetic, physical, environmental and infectious factors.
• Abnormal development of the child's septum in the womb has a greater risk in families whose relatives are sick with congenital heart disease.
• Diseases of the viral nature of a pregnant woman can cause a defect of the interatrial septum. These are rubella, herpes, chicken pox, syphilis.
• Drugs and alcohol during pregnancy.
• Harmful substances in the workplace, radiation exposure.
• Complications due to toxicosis, as a result of which the bearing of the child is threatened.

Defects of the interatrial septum. Classification

In the period from the third to the eighth weeks of pregnancy, the heart of the fetus is laid in the womb of the mother. If an incomplete septum is formed between the right and left halves of the heart, this leads to the appearance of defects of the interatrial septum, which are distinguished by the size, number and location of the holes. Classification of congenital heart defects is as follows:

• Primary defects are characterized by considerable sizes: from three to five centimeters. The site of its localization is the lower part of the septum, which is located above the atrioventricular valves, just above them. They do not have a bottom edge.
• Secondary defects are formed as a result of underdevelopment of the septum secondary. They are small in size and are found in the central part or in the region of the mouths of the veins hollow. It happens that the defects of the septum and abnormal flow into the right atrium of the pulmonary veins are combined. In this case, the atrial septum remains in the lower part.
• There are cases when secondary and primary defects are present simultaneously.
• Atrial septum may be absent altogether. This leads to the formation of a common, single atrium, which is called the three chamber heart.

Congenital heart defect. Diagnostics

If a newborn is suspected of this disease, an urgent call of a cardiologist is necessary. The specialist considers the symptoms of the disease, assesses the nature of the pulse and pressure, the state of all organs and systems. After examining the baby, an electrocardiogram, an ultrasound examination, a phonocardiogram, and a heart X-ray are performed. In the case of severe disease, the diagnosis of congenital malformations is supplemented by another examination - cardiac catheterization, when a probe is inserted into its cavity.

Very often the child's parents are indignant that the attending physician did not reveal this dangerous disease, when the expectant mother was observed with him all the time of pregnancy. The cause of congenital heart disease can be:

• Low level of professionalism of the doctor.
• Congenital diseases can not always be diagnosed in time because of the peculiarities of the heart and the fetal vessels.
• Imperfection of medical equipment.

Causes of congenital heart disease

Congenital heart defects in newborns are a consequence of anatomical defects of the heart, its valves and vessels, which can occur even in the womb of the mother. At first, they may be invisible, but may disturb the child immediately after his birth. Heart defects are the most common congenital malformations in newborns and constitute about 30%. They are the most common cause of death. Causes of development of atrial septal defect:

• Postponed during pregnancy, viral diseases, such as rubella, measles and others.
• Genetic mutation caused by the use of the mother's future drugs, alcohol, nicotine.
• Different deviations of chromosome sets of parents.
• Irradiation with ionizing radiation.
• Deficiency of microelements and vitamins in the diet of a pregnant woman.
• Effects of drugs on the fetus.

Symptoms of congenital heart disease

The babies born with this disease are different. They have skin integument, lips, auricles have a bluish or blue color. Sometimes, on the contrary, the skin of the baby turns pale, and the legs become cold. This is called white malformation of newborns. There are cases when, when listening, the expert clearly hears noises in the heart.

Very often a congenital organ disease is imperceptible immediately after the baby's birth. For 10 years, the child will look perfectly healthy. But, then the disease begins to appear in the form of blanching or blushing of the skin. There will be noticeable deviations in physical development, there will be shortness of breath.