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Heart disease is currently the leading cause of death among American men and women. One person dies every 33 seconds from cardiovascular disease. Although coronary artery disease is the most common heart condition, there are a number of other diseases to watch out for! In fact, there are over 30 distinct types of heart disease, each with their own subtypes. A rare disease is classed as a condition that affects fewer than one in 2,000 people. Currently, it is estimated there are over 7,000 rare diseases, with new conditions continually being identified as research advances. Here, PatientsLikeMe will explore and explain 9 rare heart diseases.
1. Long QT Syndrome (LQTS)
LQTS affects how your heart beats. Your heartbeat is controlled by an electrical system, and between each beat, this system needs to recharge. In LQTS, the system takes a longer time to recharge, increasing the risk of the heart going into an abnormal, potentially dangerous, rhythm. It can either be inherited from your parents or caused by certain medications.
Symptoms:
- Fainting spells
- Seizures
- Sudden death (in severe cases)
Treatments:
- Beta-blockers
- Avoiding certain medications
- Implantable cardioverter-defibrillators (ICDs)
- Lifestyle changes, like avoiding strenuous exercise
2. Hypoplastic Left Heart Syndrome (HLHS)
HLHS is a rare congenital heart disease where the left side of the heart doesn’t develop properly and is too small. This results in not enough oxygenated blood getting through to the body. A series of complex heart operations is needed, starting soon after birth, which can improve quality of life and longer-term survival.
Symptoms:
- Cyanosis (bluish skin)
- Difficulty breathing
- Poor feeding
- Lethargy
Treatments:
- Heart surgery
- Heart transplant
- Lifelong cardiology follow-up
3. Brugada Syndrome
Brugada syndrome is an inherited condition that impacts how electrical signals pass through the heart. It can cause a very high heart rate which can lead to cardiac arrest. Though there is no cure, its symptoms can be managed through medications and even the implantation of an internal defibrillator if the risk to life is significant.
Symptoms:
- Fainting
- Irregular heartbeats
- Sudden cardiac arrest
Treatments:
- Anti-arrhythmic medications
- Implantable cardioverter-defibrillator (ICD)
- Avoiding fever and certain medications
4. Spontaneous Coronary Artery Dissection (SCAD)
SCAD is when the inner layer of a coronary artery, one of the blood vessels that provide blood to the heart, tears away from the outer layer. This leads to a restriction in blood flow to the heart and can cause a heart attack. SCAD is most common in women under 50 and is the leading cause of heart attacks associated with pregnancy.
Symptoms:
- Chest pain
- Shortness of breath
- Sweating
- Nausea
Treatments:
- Medications (beta-blockers, blood thinners)
- Rest and cardiac rehabilitation
- Surgery (in some cases)
5. Restrictive Cardiomyopathy
Restrictive cardiomyopathy is the rarest form of cardiomyopathy, a group of conditions that affect the heart muscle. This group is when the heart cannot effectively pump blood around the body. This often leads to heart failure. In restrictive cardiomyopathy, the walls of the heart chambers become rigid and prevent proper filling. It is mostly found in children and is thought to be inherited.
Symptoms:
- Shortness of breath
- Fatigue
- Swelling of the legs and abdomen
- Irregular heartbeats
Treatments:
- Medications (diuretics, antiarrhythmics)
- Lifestyle changes like diet and exercise
- Heart transplant (in severe cases)
6. Pulmonary Arterial Hypertension (PAH)
PAH is characterized by high blood pressure in the arteries that supply blood to the lungs. If left untreated, it can lead to heart failure. PAH is often misdiagnosed as asthma or other respiratory conditions, which can delay treatment.
Symptoms:
- Shortness of breath
- Chest pain
- Fatigue
- Swelling in the ankles and legs
Treatments:
- Medications (vasodilators, anticoagulants)
- Oxygen therapy
- Lung transplant (in severe cases)
7. Homozygous Familial Hypercholesterolemia (HoFH)
HoFH is a genetic disorder that results in the build up of high levels of low-density lipoprotein (LDL) cholesterol in the bloodstream. HoFH is a severe form of familial hypercholesterolemia and is present from birth. It can cause early-onset cardiovascular disease, including heart attacks and strokes.
Symptoms:
- Fatty skin deposits
- Chest pain
- Heart attack (at a young age)
Treatments:
- Medications (statins, PCSK9 inhibitors)
- LDL apheresis
- Lifestyle changes like diet and exercise
8. Transthyretin Amyloid Cardiomyopathy (ATTR-CM)
ATTR-CM occurs when there is an accumulation of a protein called amyloid in the heart muscle. This build up can lead to thickening and stiffening of the heart muscles, causing heart failure. ATTR-CM can be hard to diagnose, but catching it early is important for successful treatment.
Symptoms:
- Shortness of breath
- Swelling in the legs
- Fatigue
- Irregular heartbeats
Treatments:
- Medications (diuretics, heart failure medications)
- Tafamidis (a medication specifically for ATTR-CM)
- Heart transplant
9. Hereditary Hypertrophic Cardiomyopathy (HCM)
HCM is a genetic condition that causes thickening of the heart muscles. This makes it harder for the heart to pump blood effectively. It can cause sudden cardiac death and is the leading cause of heart-related deaths in young people.
Symptoms:
- Chest pain
- Shortness of breath
- Fainting
- Palpitations
Treatments:
- Medications (beta-blockers, calcium channel blockers)
- Implantable cardioverter-defibrillator (ICD)
- Septal myectomy
Understanding rare heart diseases can help with early diagnosis and better management of the conditions. If you or someone you know is experiencing any of the symptoms mentioned, talk to a doctor! Early intervention can make a significant difference in the quality of life and outcomes for those affected.
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