Question: How many people are affected by familial restrictive cardiomyopathy ?
Answer: The prevalence of familial restrictive cardiomyopathy is unknown. Although cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in which relaxation of the heart muscle is impaired, is the least common type. Some other forms of cardiomyopathy involve a weak or enlarged heart muscle with impaired contraction. In the United States and in Europe, restrictive cardiomyopathy accounts for less than five percent of all cardiomyopathies. The proportion of restrictive cardiomyopathy that runs in families is not known.
Source: GHR

Question: What are the genetic changes related to familial restrictive cardiomyopathy ?
Answer: Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three proteins that make up the troponin protein complex, which helps regulate tensing (contraction) and relaxation of the heart muscle. TNNI3 gene mutations associated with familial restrictive cardiomyopathy result in the production of a defective cardiac troponin I protein. The altered protein disrupts the function of the troponin protein complex and does not allow the heart muscle to fully relax. As a result, not enough blood enters the ventricles, leading to a buildup in the atria and lungs. The abnormal heart relaxation and blood flow is responsible for many of the signs and symptoms of familial restrictive cardiomyopathy. Mutations in other genes associated with familial restrictive cardiomyopathy each account for a small percentage of cases of this condition. Some people with familial restrictive cardiomyopathy do not have an identified mutation in any of the known associated genes. The cause of the disorder in these individuals is unknown.
Source: GHR

Question: Is familial restrictive cardiomyopathy inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Source: GHR

Question: What are the treatments for familial restrictive cardiomyopathy ?
Answer: These resources address the diagnosis or management of familial restrictive cardiomyopathy: - Genetic Testing Registry: Familial restrictive cardiomyopathy - Genetic Testing Registry: Familial restrictive cardiomyopathy 1 - Genetic Testing Registry: Familial restrictive cardiomyopathy 2 - Genetic Testing Registry: Familial restrictive cardiomyopathy 3 - Johns Hopkins Medicine: Cardiomyopathy/Heart Failure - MedlinePlus Encyclopedia: Restrictive Cardiomyopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR