There are many different forms of hypertrophic cardiomyopathy, but the most common cause is genetic (saromeric) HCM which affects at least 1 in 500 people

There are thousands of genetic mutations that occur in more than 14 identified genes

Affected individuals may manifest the disease differently, even with the same gene affected

The spectrum of disease is broad, with some patients not experiencing any symptoms for decades or others presenting in childhood / adolescence with severe symptoms or sudden cardiac death

Symptoms generally occur for the following reasons:

• Arrhythmias (electrical problems)
  • Palpitations or sudden cardiac death
• Left ventricular outflow tract (LVOT) obstruction
  • Blood is unable to be ejected from the heart due to a combination of thick heart muscle and /or abnormal mitral valve function
  • Breathlessness, syncope (blackout) – concerningly with exercise
• Heart failure
  • The heart muscle becomes thick and stiff, this results in a small chamber with a low-volume of blood being ejected, and increased pressures required to open the stiff chamber (these increased pressures can cause lung congestion)

Regular surveillance is required (usually with transthoracic echocardiograms) – frequency depends on the severity of the condition

Medications such as beta-blockers or calcium channel blockers are used to reduce the degree of LVOT obstruction

Devices such as a defibrillator are sometimes required if he risk of sudden cardiac death is deemed to be high (primary prevention) or if the patient has had an ‘aborted’ sudden death (secondary prevention)

Surgery is sometimes required in severe cases. The type of surgery will depend on the anatomy of the heart, and may include a myomectomy with or without mitral valve surgery. Rarely a heart transplant may be considered.