Inherited dilated cardiomyopathy, also known as familial dilated cardiomyopathy occurs due to genetic transformation. The occurrence affects the functionality of the heart due to weakened muscle in at least one chamber of the heart. Due to this, the open area of the chamber notices an enlargement. Because of this situation, the heart fails to pump the needed quantity of blood demanded by the body. To compensate for the loss functioning of the heart increases as it helps in meeting the requirement of the blood needed for the body.
It takes many years for an individual to develop the symptoms that lead to the occurrence of familial dilated cardiomyopathy. Usually, the symptoms occur in mid-however, they also happen during infancy to late adulthood.
The Symptoms Of Inherited Dilated Cardiomyopathy
The typical signs or symptoms of inherited dilated cardiomyopathy include:
- Irregular heartbeat
- Shortness of breath
- Extreme tightness
- Fainting episodes
- Swelling in the legs
- Swelling in the feet
- Swelling in the abdominal region
The frequency of inherited dilated cardiomyopathy is at an estimation of 375,000 in the United States alone.
How is Dilated Cardiomyopathy Inherited?
The cause of familial dilated cardiomyopathy is due to modifications in more than 30 genes. These genes deliver instructions to the body for producing proteins, primarily found in cardiac muscle cells. Many of the proteins play a crucial role in tightening of the cardiac muscle with the help of cell structures called sarcomeres. These cell structures are the reason behind the contraction of the muscle. Sarcomeres, made from proteins, deliver the needed mechanical force to the muscles to contract.
Changes to one of the genes known as TTN accounts for over 20% of inherited dilated cardiomyopathy cases. The gene provides instructions to produce a protein called titin. It is found extensively in sarcomeres of muscle cells including cardiomyocytes. The protein offers flexibility, structure, and stability to sarcomeres. It also plays a pivotal role in signaling and assembling new sarcomeres. It is unclear how changes to the genes that produce protein are capable of developing inherited dilated cardiomyopathy.
The inheritance pattern depends on the involvement of the gene. Nonetheless, around 80% of the cases occur in an autosomal dominant pattern. The autosomal dominant pattern is a case where a change in one gene is sufficient to cause familial dilated cardiomyopathy. In many of the scenarios, an individual acquires the condition from any one of the parents.
However, in some circumstances, a few individuals do not develop familial dilated cardiomyopathy even though they inherit an altered gene. In rare instances, an individual can inherit in an autosomal recessive pattern. In such a situation, the individual receives an altered gene from both mother and father. However, the affected person may or may not show symptoms of the condition. In other cases, one can acquire it in an X-pattern. In such a case, the gene that is responsible for transforming the condition situates on the X chromosome. Females with two X chromosomes, where the mutation occurs in each cell increases the symptoms that cause heart disease. However, females with such a mutation atmosphere may not experience familial dilated cardiomyopathy.
The doctor begins a physical examination where one uses a stethoscope to listen to the lungs and the heart. In addition to it, the doctor wishes to hear about the medical history of the individual along with the family medical history. Doctor also would want to know about the symptoms that the individual is experiencing. Additional diagnosis includes blood tests, chest x-ray, electrocardiogram, echocardiography, stress test, cardiac catheterization, coronary angiography, and myocardial biopsy.
The inheritance pattern changes and can occur as explained in the above paragraphs. Diagnosing will be helpful in understanding the situation and receive appropriate treatment.
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