Cardiomyopathy is an umbrella term for heart-muscle conditions, while muscle hypertrophy means the muscles become larger. Hypertrophic cardiomyopathy is, as you can now guess, a disease characterized by an abnormal thickening within the heart muscles, a process that can also lead to scarring.
It usually strikes the wall between the two bottom heart chambers, called the ventricular septum, but hypertrophic cardiomyopathy may also affect the mitral valve that allows blood to flow from one part of the heart to another. In some cases, the thickening seen in the condition leads to a physical obstruction of blood flow, but not always.
What causes hypertrophic cardiomyopathy?
About one in 500 adults are known to live with hypertrophic cardiomyopathy, while many more remain diagnosed.
The disease can usually be blamed on genetic factors, in which case it's called familial hypertrophic cardiomyopathy. This kind of hypertrophic cardiomyopathy, in which parents with certain gene mutations have about a 50/50 risk of passing it on to a child, appears in men and women in about the same numbers.
Not everyone who inherits such an abnormal gene will end up having hypertrophic cardiomyopathy, however, and for those who do, the disease won't typically show up before they reach puberty. The severity of the symptoms as well as the disease itself is highly variable, however.
In hypertrophic cardiomyopathy, the muscle walls of the left ventricle (bottom hard chamber) start to thicken first, and the upper section of the ventricular septum, the wall that separates the two ventricles, is often affected as well. Thickening can still occur in other areas of the heart, too.
The mitral valve that lets blood through can also move abnormally, causing it to come in contact with the already thickened septum. This contact between the thickened septum and the mitral valve can result in obstructive hypertrophic cardiomyopathy, in which blood flow is is inhibited. As a result, the left ventricle builds up pressure and the valve may not be able to close completely. Mitral regurgitation then sets in and blood starts to leak into the left atrium (upper heart chamber).
The symptoms of hypertrophic cardiomyopathy
Most people who suffer from hypertrophic cardiomyopathy don't experience symptoms but sometimes, they may have a few. Symptoms may strike only when a patient exercises or exerts themselves. While it is common for symptoms to surface in midlife, the first warning signs of hypertrophic cardiomyopathy may develop during puberty. Regardless of when the symptoms show up, severity levels will fluctuate on different days.
The time of life when hypertrophic cardiomyopathy symptoms make their appearance, the level of severity, and the prognosis are not the same for every patient, but are likely to be similar in people belonging to the same family. In addition, the mutation may occur in a way that causes severe hypertrophic cardiomyopathy in some family members, while others experience mild or no HCM.
Typical symptoms of hypertrophic cardiomyopathy are:
- Chest pain and shortness of breath, mostly during exertion but also sometimes at rest
- Heart palpitations
- Feeling light-headed while sitting or standing
- Lack of energy, tiredness, or lack of stamina for certain tasks or activities
- Swollen legs and feet
- Near-fainting and temporary loss of consciousness
How is hypertrophic cardiomyopathy diagnosed?
HCM tests may be conducted if your family history shows the presence of the condition. Your doctor may suggest testing if you experience a heart murmur, new symptoms, an abnormal ECG, or an event like the loss of consciousness.
An electrocardiogram is the best way to initially check for hypertrophic cardiomyopathy. To verify the diagnosis, cardiac magnetic resonance imaging, as well as echocardiogram may be needed. Subsequently, doctors may have to conduct more tests based on your family history or symptoms that you experience. Then again, results from the echocardiogram could lead to further testing.
Can hypertrophic cardiomyopathy be treated?
At present, hypertrophic cardiomyopathy has no known cure. To manage the condition, doctors may use different treatments not only to relieve symptoms but to reduce HCM-related risks. Doctors may recommend treatment to alleviate chest pain as well as heart failure symptoms. Doctors may also suggest treatment to take out excess interventricular septum muscles, reduce heart pressure, solve palpitations, and lower the risk of sudden death.
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