Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition affecting the heart muscle.  It's characterized by thickening of the heart muscle, particularly the left ventricle (the heart's main pumping chamber). This thickening can make it harder for the heart to pump blood effectively, leading to a range of symptoms and potential complications.

What Causes HCM?

HCM is primarily caused by genetic variants affecting the genes that control the heart muscle's structure and function.  These variants are often inherited from a parent, meaning it can run in families.  However, in some cases, the genetic variants may occur spontaneously.

How Does HCM Affect the Heart?

The thickened heart muscle in HCM can lead to several problems:

• Obstructed Blood Flow: The thickened muscle can obstruct the outflow of blood from the left ventricle, reducing the amount of blood pumped to the body.
• Abnormal Heart Rhythms (Arrhythmias): The thickened muscle can disrupt the heart's electrical signals, leading to irregular heartbeats.  These arrhythmias can range from mild to life-threatening.
• Heart Failure: In some cases, the thickened heart muscle can weaken over time, leading to heart failure, where the heart can't pump enough blood to meet the body's needs.
• Sudden Cardiac Death:  While rare, sudden cardiac death is a potential complication of HCM, particularly in young adults and athletes.

Symptoms of HCM

Symptoms of HCM can vary widely, from mild to severe, and some individuals may have no symptoms at all.  Common symptoms include:

• Shortness of breath: Especially during exertion
• Chest pain or discomfort:  Often described as tightness or pressure
• Fatigue:  Unexplained tiredness or weakness
• Dizziness or lightheadedness:  Especially during exertion
• Palpitations:  A feeling of a rapid or irregular heartbeat
• Syncope (fainting):  Loss of consciousness

Diagnosis of HCM

HCM is typically diagnosed through a combination of:

• Physical Examination:  Listening to the heart with a stethoscope
• Echocardiogram:  An ultrasound of the heart to visualize the heart muscle thickness and blood flow
• Electrocardiogram (ECG):  A test that measures the heart's electrical activity
• Cardiac MRI:  A more detailed imaging test of the heart
• Genetic Testing:  To identify the specific genetic variants causing HCM and family scressing. 

Treatment of HCM

Treatment for HCM depends on the severity of the condition and the presence of symptoms.  Treatment options may include:

• Medications:  To manage symptoms, such as arrhythmias and heart failure
• Lifestyle Modifications:  Such as regular exercise and a healthy diet
• Surgical Procedures:  In some cases, surgery may be necessary to improve blood flow or address arrhythmias.
• In some cases, cardiac devices such as intracardiac defibrillators are recommended.