Rare Disease Day: 6 rare heart diseases that can be fatal


You often hear about heart attack or heart failure. But there are some rare heart diseases that you should also know about.

Cardiovascular diseases affect millions of people in the world, and are one of the leading cause of death worldwide. While you may have heard of coronary artery disease or heart failure, there are many more cardiovascular diseases that are not very common. Rare heart diseases may strike people due to genetic reasons or other lifestyle factors, and they can be fatal too. On Rare Disease Day, observed annually on the last day of February, we tell you some of the rare heart diseases you should know about.

Cardiovascular diseases, which are a group of disorders of the heart and blood vessels, are the leading cause of death across the globe. The diseases take nearly 18 million lives each year, according to the World Health Organization. While heart attacks and strokes cause more than four out of five cardiovascular disease (CVD) deaths, there are rare heart diseases that can be serious.

What are rare heart diseases?

Rare heart diseases are the ones that are not very common. Here are some of them:

1. Left Ventricular Noncompaction (LVNC)

It is a rare heart condition in which the lower left heart chamber doesnโ€™t develop properly. So, your heart may not pump blood throughout your body as efficiently as it is supposed to. Often a congenital condition, meaning it is present at birth, caused by the heart muscle not forming properly, says interventional cardiologist Dr Abhijit Borse. Its symptoms are fatigue, shortness of breath and heart palpitations.

For its treatment, some patients may need anticoagulation or implantable device (defibrillator). In severe cases, cardiac transplant may be considered, says the expert.

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stethoscope and a heart
Left Ventricular Noncompaction is a rare heart disease. Image courtesy: Freepik

2. Amyloidosis

Abnormal proteins get built up in the heart tissue, and so, affect its function. It can be associated with certain diseases like multiple myeloma. The symptoms of amyloidosis include fatigue, swelling in the legs and ankles and difficulty in breathing.

Treatment will be targeted at the underlying cause, such as addressing multiple myeloma. Organ-specific therapies are also available to manage symptoms.

3. Arrhythmogenic Right Ventricular Dysplasia (ARVD)

This is a rare genetic disorder causing structural changes in the heart. The heart muscle gets replaced with fatty tissue in case of ARVD. Its symptoms are palpitations, fainting and irregular heartbeats or arrhythmia.

To manage this condition, implantable devices such as a defibrillator, are available for those at risk of sudden cardiac death.

4. Takotsubo cardiomyopathy

Also known as broken heart syndrome, this condition mimics a heart attack but is often triggered by extreme emotional stress that leads to a temporary weakening of the heart muscle, says the expert. Though it can affect men, it mostly occurs in postmenopausal women after physical or emotional stress, according to a 2012 study published in Revista Portuguesa de Cardiologia (English Edition). Its symptoms are chest pain (resembling a heart attack), shortness of breath, rapid or irregular heartbeats. Broken heart syndrome may be fatal in rare cases.

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Supportive care is needed for its treatment. While it typically resolves on its own, sometimes a doctor may prescribe medication such as diuretics to reduce fluid build-up.

5. Restrictive cardiomyopathy

It is characterised by stiffening of the heart muscle, limiting its ability to stretch and fill with blood. It can be idiopathic (unknown cause) or may be associated with conditions like amyloidosis. Its symptoms are fatigue, swelling in the abdomen or legs and shortness of breath.

Treating restrictive cardiomyopathy requires the underlying cause to be identified. In some cases, a heart transplant may be considered.

6. Giant cell myocarditis

Giant cell myocarditis is an inflammatory disease leading to rapid deterioration of the heart muscle, says Dr Borse. It is an autoimmune response where the bodyโ€™s immune system attacks the heart muscle, often without a clear trigger. Its symptoms are chest pain, fatigue and shortness of breath.

To treat giant cell myocarditis, high-dose immunosuppressive therapy may be needed. Mechanical circulatory support or heart transplant may be recommended in severe cases.

Can rare heart diseases be fatal?

Yes, rare heart diseases can be serious and, in some cases, potentially fatal. The outcomes vary depending on factors such as the specific disease, its severity, and how well it responds to treatment. Conditions like ARVD or giant cell myocarditis can pose a risk of sudden cardiac death.

People with these rare heart diseases often require specialised care from a team of healthcare professionals, including cardiologists and, in some cases, transplant specialists. Regular follow-ups and adherence to treatment plans are essential to optimise the management of these conditions.

Woman in red making a heart sign
Follow these tips for a healthy heart. Image courtesy: Freepik

How to keep heart healthy?

Maintaining a healthy lifestyle is essential for heart health. Here are some tips to support cardiovascular well-being:

1. Regular exercise

Engage in at least 150 minutes of moderate-intensity aerobic exercise per week. Also, try do strength training exercises at least two days in a week.

2. Balanced diet

Stay hydrated and eat a diet rich in vegetables, whole grains, fresh fruits, lean proteins as well as healthy fats. Consume less saturated and trans fats, sodium, and added sugar.

3. Give up bad habits

If you smoke, seek support to quit. Smoking is a major risk factor for heart disease, says the expert. Also, consume alcohol in moderation, if at all. You can have one drink in a day.

4. Manage stress

Practice stress-reducing techniques so that your heart doesnโ€™t feel the pressure. You can go for yoga, meditation or deep breathing.

5. Regular health check-ups

Check your cholesterol levels, blood sugar and blood pressure on a regular basis. You should address any health conditions promptly.

Adopting these habits can contribute to a healthy lifestyle and reduce the risk of cardiovascular diseases.



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