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Hypertrophic cardiomyopathy, or HCM, is a disease of excess contraction of the heart muscle in which the walls of the heart thicken and prevent the left ventricle from expanding, resulting in a reduced pumping capacity. HCM is the most common form of heritable cardiomyopathies, and is estimated to effect approximately one in every 500 people worldwide.
HCM is a chronic disease that typically progresses slowly with the gradual development of severe symptoms. For those diagnosed with HCM whose hearts have become enlarged and hypercontractile, mild physical exertion can quickly result in fatigue or shortness of breath. In approximately 15% to 20% of patients, disease progression results in disabling heart failure that can prevent the patients from holding a job or performing activities of daily living. HCM can also cause stroke or sudden cardiac death.
Systolic heart failure affects an estimated 3.5 million people in the U.S. alone. Also known as HFrEF (heart failure with reduced ejection fraction) or dilated cardiomyopathy (DCM), diseases of systolic heart failure are all characterized by a heart that is unable to contract (or pump) with sufficient force to meet the needs of the body for oxygenated blood. In DCM, the loss of contractility leads the walls of the left ventricle to become thin and over-expanded, functioning under increased stress. DCM may have diverse causation factors; some genetic forms occur when mutations disrupt the ability of individual myosin motors to form cross-bridges with actin, decreasing the force of contraction.
DCM is a life-threatening progressive disease. Typical symptoms include shortness of breath, fatigue, swelling in the extremities or an irregular heartbeat. Once symptoms appear, a person’s condition typically declines steadily over the next few years. As the disease progresses, DCM patients may become increasingly debilitated and experience persistent shortness of breath, even at rest.
Diseases of diastolic dysfunction account for approximately half of all heart failure, affecting an estimated two million to three million people in the United States alone. Also known as heart failure with preserved ejection fraction (or HFpEF), diastolic dysfunction is often considered a disease of old age and is associated with diabetes, high blood pressure and obesity. Heart failure caused by diastolic dysfunction is defined by the inability of the left ventricle to relax and fill with oxygenated blood, so even when the heart’s ability to pump is preserved, the blood supply to the rest of the body is insufficient to meet its needs.
Diastolic heart failure symptoms include shortness of breath, fatigue, weakness, edema and dizziness, though it may present and progress in different ways among patients. Atrial fibrillation and pulmonary hypertension are common in patients with diastolic disease. Current treatment options are limited to diuretics and hypertension medicines intended to reduce symptoms. There are no approved therapeutics that target diastolic diseases.
What I always hear is "You look fine," but I feel tired. It's not sleepy. It's tired. There's a difference. You just don't have the energy necessary to do certain tasks. When my dilated cardiomyopathy gets really bad, my ejection fraction gets severely poor, and something as simple as putting a load of laundry in the washing machine, I felt like I just ran a marathon. It's really, really hard.
I was just playing basketball at the YMCA and at the end of the game I just laid down on the floor like I can’t breathe. My mom took me to the doctor and the doctor actually heard it. I’ve had an ablation done, and it was unsuccessful. I three times and was shocked with paddles. Since I’ve had my defibrillatory put in, it’s been life changing. They say you can’t do anything, but you can.
I went to my primary doctor and they misdiagnosed me with exercise-induced asthma and then they gave me an inhaler and it wasn't working. Since my diagnosis, I have a couple of first cousins that found out they have it and then again with our kids having it, we want to educate ourselves as much as possible so that we know what to look for… For our kids, they're very active in sports as well. I want them to have that opportunity but at the same time we gotta know what to recognize.
Our life changed when we received the call about Gianna… Her heart is too big for her body and she has an obstruction. We kind of joke that she is so loving and caring because she has such a big heart. She is constantly on the go. Because it’s moving so fast I think her body tries to keep up with her heart because it’s pumping, pumping, pumping.
Sometimes I have been so sick that it felt like I am walking against the wind. You just get used to the fact that it is more effort to do stuff but you have already forgotten what is normal so you think you are normal. Until I see my wife running around doing stuff, and I see that she is zipping around. I go, "I guess that’s normal".