Hypertrophic cardiomyopathy is a chronic disease in which the heart muscle thickens abnormally, specifically the left ventricle. This thickening, known as hypertrophy, can reduce the volume of the ventricular cavity and make it difficult for the heart to relax and pump blood efficiently.
Hypertrophic cardiomyopathy can manifest in various ways, from being completely asymptomatic to causing debilitating symptoms. In the long term, it can cause serious complications such as heart failure or arrhythmias. However, with early diagnosis and an appropriate treatment plan, many people with hypertrophic cardiomyopathy can lead a full life.
Symptoms of hypertrophic cardiomyopathy
The symptoms of hypertrophic cardiomyopathy can be very varied, and their presentation depends on whether there is obstruction or not, its severity, and the presence of other complications. Some people may not experience any symptoms, while others may have mild or severe symptoms. It is important to remember that the severity and presentation of symptoms can vary from person to person. Some of the most common symptoms include:
Shortness of breath
especially during exercise or while lying down.
Chest pain (angina)
which can feel like tightness, pressure, or discomfort.
Fatigue and weakness
Dizziness, lightheadedness, or fainting (syncope)
especially during or after exercise.
Palpitations
(sensation of fast, strong, or irregular heartbeats).
Heart murmur
an abnormal sound that can be heard with a stethoscope.
It is important to remember that these symptoms can be caused by many other medical conditions. If you experience any of these symptoms, it is essential to consult a doctor for an accurate diagnosis.
Classification of hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy can be classified into different types according to the location of the hypertrophy, or the presence or absence of obstruction of blood flow leaving the heart. This classification is important because it influences the treatment and the prognosis of the disease. The main types of hypertrophic cardiomyopathy are:
Hypertrophic obstructive cardiomyopathy (HOCM): this form of hypertrophic cardiomyopathy is characterized by thickening of the heart muscle that obstructs the flow of blood from the left ventricle to the aorta. The obstruction can be fixed or dynamic, meaning it can worsen with exercise or stress.
Non-obstructive hypertrophic cardiomyopathy (NOHCM): in this form of hypertrophic cardiomyopathy, there is no significant obstruction of blood flow out of the heart. However, thickening of the heart muscle can still cause other problems, such as difficulty relaxing the heart (diastolic dysfunction).
Apical hypertrophic cardiomyopathy: this form of hypertrophic cardiomyopathy is characterized by thickening of the heart muscle at the tip (apex) of the heart.
Asymmetric septal hypertrophic cardiomyopathy: this is the most common form of hypertrophic cardiomyopathy, in which the thickening occurs mainly in the wall that separates the ventricles (interventricular septum).
Causes of hypertrophic cardiomyopathy
In most cases, hypertrophic cardiomyopathy is a genetic disease caused by mutations in the genes that control the production of heart muscle proteins (sarcomeric proteins). These mutations can be inherited from one or both parents.
More than 1,500 different genetic mutations associated with hypertrophic cardiomyopathy have been identified, which explains the great variability in the presentation and severity of the disease. The most commonly affected genes are: MYH7, MYBPC3, TNNT2, TNNI3 and TPM1.
In some cases, hypertrophic cardiomyopathy can occur without a known genetic cause. These cases are called sporadic hypertrophic cardiomyopathy.
The main risk factor for hypertrophic cardiomyopathy is having a family history of the disease. If you have a first-degree relative (parents, siblings, or children) with hypertrophic cardiomyopathy, there is a 50% chance of having the genetic mutation and developing the disease.
Other factors that may increase the risk of developing hypertrophic cardiomyopathy include:
Age: hypertrophic cardiomyopathy is most often diagnosed in people between the ages of 20 and 40, but it can occur at any age.
Race: hypertrophic cardiomyopathy appears to be more common in people of African descent.
High blood pressure: high blood pressure can increase the risk of developing hypertrophic cardiomyopathy.
Other heart conditions: some heart conditions, such as aortic stenosis, can increase the risk of developing hypertrophic cardiomyopathy.
Complications of hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy can cause various serious complications that affect patients’ quality of life and survival. It is important to be aware of these complications and seek medical attention if their occurrence is suspected. Some of the most common complications include:
Atrial fibrillation: this is a common arrhythmia that can lead to blood clots, strokes, and heart failure.
Heart failure: over time, thickening of the heart muscle can make it difficult for the heart to pump enough blood to meet the body’s needs, leading to heart failure.
Left ventricular outflow tract (LVOT) obstruction: this complication occurs when thickening of the heart muscle blocks the flow of blood leaving the heart, causing shortness of breath, dizziness, and fainting.
Sudden cardiac death: this is a relatively rare complication. The risk is higher in people with certain risk factors, such as a family history of sudden cardiac death, unexplained fainting, significant interventricular septum thickness (>30 mm), or the presence of documented ventricular arrhythmias.
Diagnosis of hypertrophic cardiomyopathy
The diagnosis of hypertrophic cardiomyopathy generally involves a thorough evaluation that combines the patient’s medical history, a physical examination, and various diagnostic tests. These tests help doctors determine the type and severity of hypertrophic cardiomyopathy, as well as rule out other possible causes of the symptoms. Some of the common diagnostic methods and procedures include:
Medical history and physical examination: the doctor will ask about your symptoms, family medical history, and risk factors. They will also perform a physical exam to evaluate the heart and lungs.
Electrocardiogram (ECG): this test records the heart’s electrical activity and can help detect abnormal heart rhythms or signs of thickening of the heart muscle.
Echocardiogram: this test uses sound waves to create an image of the heart. It can show the size and shape of the heart, as well as the way it pumps blood. An echocardiogram can also help detect obstruction of blood flow.
Stress echocardiogram: this test is performed while exercising on a treadmill or stationary bike. It can help detect obstruction of blood flow that is not present at rest. In addition, during an exercise stress test, cardiac arrhythmias may be observed during exertion.
Cardiac magnetic resonance imaging (MRI): this test uses magnets and radio waves to create detailed images of the heart. It can provide more accurate information about thickening of the heart muscle, the presence of scarring in the heart, and the function of the heart valves.
Genetic test: this test can help identify genetic mutations associated with hypertrophic cardiomyopathy. However, not all people with hypertrophic cardiomyopathy have an identifiable genetic mutation.
At HM Hospitales we have a Family Heart Disease Unit, with a comprehensive care service for people with hereditary heart diseases. Its goal is to identify patients and family members at risk early, prevent complications, and provide comprehensive management.
Treatment for hypertrophic cardiomyopathy
The treatment of hypertrophic cardiomyopathy depends on the severity of the disease and the presence of symptoms. The aim of treatment is to relieve symptoms, prevent complications, and improve the patient’s quality of life. Treatment options may include:
Lifestyle changes: strenuous exercise is not recommended, as the intensity may increase the risk of sudden cardiac death in people with hypertrophic cardiomyopathy. It is also recommended to maintain a healthy diet, which can help control high blood pressure and other cardiovascular risk factors. In addition, it is important to control high blood pressure to avoid a possible worsening of the symptoms of hypertrophic cardiomyopathy.
Medications: various medications can be used depending on the status of hypertrophic cardiomyopathy. Beta-blockers help lower heart rate and blood pressure, which can relieve symptoms such as shortness of breath and chest pain. Calcium channel blockers also help lower heart rate and blood pressure, and may improve relaxation of the heart muscle. Disopyramide helps reduce the contractility of the heart muscle, which can relieve the obstruction of blood flow. And diuretics help remove excess fluid from the body, which can relieve the symptoms of heart failure.
Septal myectomy: this surgical procedure involves the removal of a portion of thickened heart muscle in the interventricular septum. The goal is to widen the left ventricular outflow tract and improve blood flow. Septal myectomy is considered the treatment of choice for people with severe obstructive hypertrophic cardiomyopathy who do not respond to medications.
Alcohol septal ablation: this procedure is a less invasive alternative to septal myectomy. It involves injecting alcohol through a catheter into the artery that supplies blood to the thickened portion of the heart muscle. Alcohol damages muscle cells, causing them to shrink and reducing the obstruction of blood flow.
Implantation of an Implantable Cardioverter-Defibrillator (ICD): this device is implanted in the chest and can deliver an electrical shock to restore a normal heart rhythm if a life-threatening arrhythmia occurs. ICDs are recommended for people with hypertrophic cardiomyopathy who are at high risk of sudden cardiac death.
Heart transplant: in severe cases of hypertrophic cardiomyopathy that do not respond to other treatments, a heart transplant may be necessary.
Treatment for hypertrophic cardiomyopathy often requires a multidisciplinary approach, involving cardiologists, electrophysiologists, cardiac surgeons, and other healthcare professionals.
Remember that this article is for informational purposes only and does not replace professional medical advice. If you suspect you have hypertrophic cardiomyopathy, consult a specialist to obtain an accurate diagnosis and an appropriate treatment plan tailored to your needs.
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