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Hypertrophic cardiomyopathy

Dr. Nabi Darya Vali (AIIMS)MBBS

November 11, 2020

November 11, 2020

Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy

The heart is a muscular organ that pumps blood to all parts of the body. Our blood transports oxygen, nutrients, immune cells, and a number of hormones, enzymes and other proteins throughout the body. But what happens when the heart is unable to pump well?

We are all aware of heart diseases like heart failure—which happens when the muscles of the heart are unable to pump blood properly, usually because they have become weak.

Hypertrophic cardiomyopathy is another condition in which the heart may not be able to pump blood properly—this happens when the wall (septum) that separates the lower right and left chambers (ventricles) of the heart becomes too thick (hypertrophied) or stiff.

People with this condition may also have an abnormal arrangement of heart muscle cells, which is called myofiber disarray. This abnormal arrangement is responsible for triggering arrhythmias (irregular heartbeat) in some people.

Hypertrophic cardiomyopathy is “the most frequent cause of death in young people (including trained athletes)”, according to a 2013 seminar lecture published in The Lancet. The seminar also pointed out that some 1,400 mutations have been observed in 11 genes in many people with this condition.

In addition to managing symptoms like chest pain and shortness of breath, treatment may involve medicines (pharmacological intervention), electrical interventions like placing an implantable cardioverter-defibrillator (ICD) or surgical intervention like septal myectomy in which a portion of the thickened wall is removed in open-heart surgery.

In people who experience syncope (fainting without an obvious reason), irregular heartbeat (arrhythmias) especially during exercise, it is recommended that they see a doctor who can diagnose or rule out hypertrophic cardiomyopathy.

Symptoms of hypertrophic cardiomyopathy

Some people with hypertrophic cardiomyopathy may not experience any symptoms. However, in people whose heart muscles have become thick enough or stiff enough to interrupt adequate blood flow (obstructive hypertrophic cardiomyopathy, as opposed to non-obstructive hypertrophic cardiomyopathy), the following symptoms may be seen:

  • Chest pain: People with hypertrophic cardiomyopathy may complain of chest pain during daily activities that require physical exertion but also after meals.
  • Fainting: Passing out, also called syncope, could be because of irregular heart rhythms associated with hypertrophic cardiomyopathy.
  • Palpitations: Palpitations, or fluttering in the chest due to irregular heart rhythms, happen in around 25% of people with hypertrophic cardiomyopathy.
  • Shortness of breath: It is likely caused due to a back up of pressure, either in the lungs or in the left ventricle of the heart. This is an extremely common symptom among adults with hypertrophic cardiomyopathy and happens mostly after exertion.

Causes of hypertrophic cardiomyopathy

One may have a genetic disposition for hypertrophic cardiomyopathy or they may acquire the heart defect responsible for it:

  • Genes: In most cases, the reason for hypertrophic cardiomyopathy is unknown or varies deeply. There are certain abnormal genes that cause the heart muscle to grow abnormally thick, which can be inherited. However,  in some people, the gene is present but does not express itself in the form of the disease.
  • Hypertension: Studies have also shown that stress and hypertension (high blood pressure) can lead to the hypertrophy of the lower ventricle, thus causing hypertrophic cardiomyopathy. This means that the disease can be acquired due to one’s own lifestyle as well.

Complications of hypertrophic cardiomyopathy

While many people with hypertrophic cardiomyopathy live a normal life without facing any problems whatsoever, some may develop heart conditions that could affect their quality of life.

Sudden cardiac death in young, often asymptomatic, people is the most drastic fallout of hypertrophic cardiomyopathy. This happens because of a sudden loss of heart function caused by a dangerously fast heart rhythm called ventricular tachycardia. Unless emergency treatments like CPR and defibrillation are initiated immediately after the onset of symptoms, sudden cardiac death can occur.

Research has also linked hypertrophic cardiomyopathy to myocardial fibrosis (scarring of heart tissue), microvascular ischaemia (blockages in the small blood vessels of the heart) and cellular disarray which may predispose a patient to re-entrant ventricular arrhythmias and possibly lead to sudden cardiac death.

Heart failure is also a big risk associated with hypertrophic cardiomyopathy. It refers to a condition in which the heart isn’t able to pump or fill adequately.

Remember that despite it being the most common cause of sudden cardiac death in people under 30, most people with hypertrophic cardiomyopathy have a low risk for sudden cardiac death and they develop no symptoms or suffer milder effects than sudden cardiac death.

Diagnosis of hypertrophic cardiomyopathy

Some patients may never find out that they have hypertrophic cardiomyopathy as they don't develop symptoms. To diagnose the condition in those who do have some symptoms, the doctor may look for the following signs and risk factors:

  • Patients with hypertrophic cardiomyopathy—especially hypertrophic obstructive cardiomyopathy (HOCM), in which the thickening of the septum results in an obstruction—may have a heart murmur. The doctor, therefore, begins with a physical exam.
  • First degree relatives of a person with hypertrophic cardiomyopathy have a 50% chance of inheriting the same gene. So, the medical professional will ask about your family medical history and symptoms.
  • An echocardiogram (echo) is the most common and important test for the diagnosis of this condition. This is because the thickening of heart walls, which is characteristic of hypertrophic cardiomyopathy, is usually reflected in an echo.
  • Other tests may include chest X-rays, MRI scan, blood tests and electrocardiogram (ECG or EKG) among others.

Treatment of hypertrophic cardiomyopathy

Depending on the severity of the disease, the doctor may advise one of the following treatments for hypertrophic cardiomyopathy:

  • Implantable cardioverter-defibrillator (ICD): A small device placed just under the skin, ICD is connected to wire leads that go from the vein to the heart. It constantly monitors the heart rhythm and is suggested for people at risk for life-threatening arrhythmias or sudden cardiac death. In case of an arrhythmia, the ICD releases a powerful electrical pulse to the heart, thus causing it to beat in a normal rhythm again.
  • Septal myectomy: In this surgical procedure, a small amount of the thickened septal wall is taken out to widen the path the blood takes from the left ventricle (a chamber of the heart) to the aorta (the main artery from the heart), also commonly called the outflow path.
  • Ethanol ablation: This procedure is recommended to those who are not eligible candidates for septal myectomy. In ethanol ablation, a tiny amount of pure alcohol is injected through a catheter. The alcohol kills cells on contact, causing the septum to shrink back to a more normal size in the following months, widening the passage for blood flow. The procedure is also called septal ablation.

Takeaways for hypertrophic cardiomyopathy

Even if you don’t have any symptoms but have a family history of hypertrophic cardiomyopathy, you should pay a visit to your cardiologist for tests.

You should also rush to a doctor in case you are having difficulty breathing or your heartbeat becomes very fast or irregular.

Depending on your condition and risks, your doctor can help you choose a treatment option that is optimal for you.


  1. Barry J Maron MD, Dr. Martin S Maron Hypertrophic cardiomyopathy . The Lancet, 19–25 January 2013; 381(9862): 242-255
  2. Dilsizian V, Bonow RO, Epstein SE, Fananapazir L Myocardial ischemia detected by thallium scintigraphy is frequently related to cardiac arrest and syncope in young patients with hypertrophic cardiomyopathy J Am Coll Cardiol. 1993 Sep;22(3):796-804
  3. Aguiar Rosa S., Fiarresga A., Galrinho A., Cacela D., Ramos R., de Sousa L., Gonçalves A., Bernardes L., Patrício L., Branco L.M., Ferreira R.C. Short- and long-term outcome after alcohol septal ablation in obstructive hypertrophic cardiomyopathy: Revista Portuguesa de Cardiologia, Volume 38, 2019
  4. Trivedi A. and Knight B.P. ICD therapy for primary prevention in hypertrophic cardiomyopathy. Arrhythmia & Electrophysiology Review, 1 Jan 2016; 5(3):188-196 DOI: 10.15420/aer.2016:30:2 PMID: 28116084.

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Medicines for Hypertrophic cardiomyopathy

Medicines listed below are available for Hypertrophic cardiomyopathy. Please note that you should not take any medicines without doctor consultation. Taking any medicine without doctor's consultation can cause serious problems.

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