7 rare heart diseases.
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Of genetic origin and belonging to the group of channelopathies, this disease is caused by the alteration in the genes that direct the formation of cardiac proteins that regulate the passage of ions through the cell membrane, known as ion channels. In the worst cases, the ailment can lead to electrical disorders, which can range from the appearance of arrhythmias to episodes of syncope or sudden death .
It is diagnosed through an electrocardiogram , but in cases where it is doubtful, special tests may be carried out that consist of injecting certain medications that help confirm or rule out the diagnosis. This disease usually affects men who are around 30 years of age.
Kawasaki disease
It is a generalized inflammation of the arteries of the body and appears in children under five years of age. His symptoms begin with a feverish picture that does not respond to antibiotics. The complication most feared by experts is the appearance of coronary aneurysms, which occurs in up to 20% of cases. Japan is the country with the most affected children.
In addition to fever , the signs that usually appear are bilateral conjunctivitis, changes in the mucosa of the mouth, abnormalities in the limbs such as edema of the hands or legs or desquamation, etc.
Infectious endocarditis
Produced by the arrival of a microorganism through the bloodstream, usually bacteria , this disease is nothing more than the inflammation of the inner lining of the heart valves and cavities, which grow to form vegetations. Despite being a serious and life-threatening condition, recovery without sequelae is not uncommon if properly treated.
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Symptoms, which can last for several weeks before diagnosis, include fever, chills, night sweats, malaise, decreased appetite, fatigue, weakness, and musculoskeletal discomfort. Be careful, these are signs very similar to those of the flu !
Valvular disease
As the name suggests, these diseases affect the valves of the heart . These open and close during the cardiac cycle, thus allowing the passage of blood from one chamber to another. Only 4 valves can be damaged: the mitral, aortic, pulmonary and tricuspid , due to causes such as infections , trauma, aging, etc.
The most common is degenerative valve disease in older people, which consists of hardening and calcification of the valves, which limits their mobility and affects their function. Valves open and close about 60 times a minute, so someone in their 70s will have made that move… more than 2 billion times!
Wolff-Parkinson-White syndrome
Those who suffer from this disease with a peculiar name suffer arrhythmias accompanied by abnormalities in the cardiac conduction system (accessory pathways). There is a risk of sudden death slightly higher than in the general population, so indirect data (appearance of arrhythmias or some characteristics in the electrocardiogram) and direct data (characterization of the accessory pathway) can estimate the risk of sudden death .
Foramen oval permeable
First it is necessary to know what the foramen ovale is: it is a natural opening that allows the passage, during fetal life, of oxygenated blood from the right atrium to the left, so that the oxygen and nutrients that come from the mother through the placenta and umbilical vein can reach the brain and other fetal organs.
At the time of birth, increased pressure in the left atrium favors its progressive closure. In some people, this closure does not occur, remaining open after birth , which is known as patent foramen ovale. In most patients, no symptoms occur and are discovered by chance when doing an echocardiogram, for another cause such as the study of murmurs.
Marfan syndrome
In this disease the main affected is the connective tissue , which is more important than we think. Formed by the proteins that act on the skin, bones, blood vessels , etc., it acts as a 'glue' for all cells , among other essential functions.
The problem lies in a genetic alteration in chromosome 15 , which can occur in both men and women. Mutations that occur in genes on this chromosome lead to problems in proteins that are part of connective tissue. How is the disease transmitted? Usually from parents to children through genes , but approximately 25% of patients have no affected parents.
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