Hypertrophic cardiomyopathy

Question 1

Cardiomyopathy

Answer 1

Group of diseases of the myocardium that affect the mechanical or electrical function of the heart.

Question 2

Definition

Answer 2

Disease where the heart becomes thickened, which can make it harder for the heart to pump blood.
Includes a group of inherited conditions that produce hypertrophy of the myocardium in the absence of an alternative cause

Question 3

Aetiology

Answer 3

Most cases caused by gene mutations that cause the heart to thicken.
Typically affects the septum between the 2 ventricles, this may block the flow of blood out of the heart.

Most common causes of HCM:
– mutations of the beta myosin heavy chain

Question 4

Epidemiology

Answer 4

Most common cause of sudden cardiac death in young people and affects 1 in 500 of the population

Question 5

Risk factors

Answer 5

Usually inherited genetically

Question 6

Clinical presentation

Answer 6

Many cases are asymptomatic and detected by a family screening of an affected individual.

Chest pain,
dyspnoea (occurs due to impaired relaxation of the heart muscle),
syncope or pre-syncope,
cardiac arrhythmia
sudden death

Shortness of breath, especially during exercise

Sensation of fast, fluttering or pounding heartbeats (palpitations)

Sudden death occurs at any age, higher rates in adolescents and young adults

Signs:
- jerky carotid artery pulse
- heart murmur

can cause heart failure

blocked blood flow from the heart