Familial restrictive cardiomyopathy is a form of heart disease characterized by problems with contraction of the heart muscle. Normally, the heart muscle contracts and relaxes to allow the heart to beat. Familial restrictive cardiomyopathy makes the heart muscle stiff, which keeps it from fully performing the way they should. Utimately these changes makes it harder for blood to flow through the heart from the upper chambers (atria) to the lower chambers (ventricles). When blood cannot flow as well, blood backs up into the atria and lungs, and less blood can be ejected to the body.
This condition can occur at any stage of life. Symptoms in children include slow physical growth, tiredness, fainting, high blood pressure, and extra fluid in the stomach and lungs. Sometimes, children will not show symptoms until they have heart failure. Symptoms in adults include shortness of breath (especially when exercising), fatigue, irregular heartbeat, fluttering in the chest, and dizziness.
Familial restrictive cardiomyopathy is associated by a change in the TNNI3 gene. We inherit our genes in pairs, one from each parent typically. Familial restrictive cardiomyopathy is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.
This condition can be diagnosed through a range of tests including a chest x-ray, an electrocardiogram (ECG), and an MRI of the heart. Currently, there is no cure for this condition, but some treatments exist to improve symptoms in children. Additionally, there are medications to help reduce excess fluid in the lungs and allow the heart to pump better.
If you or a family member has been diagnosed with familial restrictive cardiomyopathy, talk to your doctor about the most current treatment options.
Description Last Updated: Aug 25, 2018