Rare heart diseases: what are they?

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Rare heart diseases, such as hypertrophic cardiomyopathy, supraventricular tachycardia, Brugada syndrome, familial dilated cardiomyopathy, and Ellis-van Creveld syndrome, often cause delayed diagnosis. These diseases can lead to serious damage to the heart and other organs, and treatment varies depending on the individual symptoms.

There are several types of rare heart disease, which often cause a delay in getting an accurate diagnosis, as most doctors try to rule out more commonly known diseases before considering the possibility that a rare disease is present. Some of these diseases include hypertrophic cardiomyopathy, supraventricular tachycardia, and Brugada syndrome. Additional conditions include familial dilated cardiomyopathy and Ellis-van Creveld syndrome.

Hypertrophic cardiomyopathy is one of the rare heart diseases that affects the muscles and electrical system of the heart. The walls of the heart thicken, making it difficult for the heart to pump blood effectively to the rest of the body. A rare genetic mutation is thought to be the cause of this disease. Supraventricular tachycardia is another rare disease that affects the heart. Common symptoms include shortness of breath, chest pain, and loss of consciousness.

Brugada syndrome is among the most life-threatening rare heart diseases. This disorder causes an irregular heart rhythm that can prevent the body from effectively pumping blood around the body. The patient with this heart disease may have frequent fainting spells or may suffer a sudden heart attack, often leading to death. An electrical device may be implanted in an attempt to regulate the heart rate and prevent the sudden death frequently associated with this condition.

Familial dilated cardiomyopathy is among the rare inherited heart diseases and causes enlargement and weakening of the left ventricle. This prevents the heart from properly pumping blood to the rest of the body, potentially leading to heart failure and damage to various other organs in the body. In most cases, familial dilated cardiomyopathy is considered autosomal dominant, which means that the patient must inherit the abnormal gene from only one parent. Prescription drugs or surgery can be used to help control this disease.

Ellis-van Creveld syndrome is a type of rare genetic heart disease that most commonly affects the Amish population. Physical abnormalities such as a type of dwarfism and various skeletal malformations are common among those suffering from this disease. A defect between the heart’s two upper chambers can lead to symptoms such as shortness of breath, irregular or inconsistent heart rhythms, or frequent respiratory infections. Serious damage to the heart can occur, which is often fatal. Treatment is aimed at managing individual symptoms, and in some situations, prescribed medications or surgery may be indicated.




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