Hypertrophic cardiomyopathy

Question 1

Definition

Answer 1

Thickening (hypertrophy) of the cardiac muscle (heart)

Most common cause of sudden cardiac death in young people

AKA: idiopathic hypertrophic sub-aortic stenosis

Question 2

Aetiology/ causes

Answer 2

Usually caused by genetic mutations that cause the heart to thicken

Affects the septum between the lower ventricles (with the thickened wall potentially blocking the blood flow out of the heart (obstructive hypertrophic cardiomyopathy)

Question 3

Risk factors

Answer 3

Prevalence in family history/ heredity (people with one parent with hypertrophic cardiomyopathy have a 50% chance of having the genetic mutation for the disease

Question 4

Epidemiology/ Population affected

Answer 4

Females tend to be more symptomatic causing more disability and present at a younger age.

Equal distribution amongst men, women, all races

Peak incidence in 2nd/ 3rd decades (some adults can present between the 4th/ 6th)

Question 5

Clinical presentation

Answer 5

Can be asymptomatic

Breathlessness, chest pain, fainting (especially during exercise)

Palpitations
Heart murmurs
Jerky carotid pulse

Question 6

Prognosis

Answer 6

Mortality rates have improved but still, range from 1-6%

The condition is progressive and eventually, all patients will develop symptoms.

Question 7

DDX

Answer 7

Aortic valve stenosis
Restrictive cardiomyopathy
Pericardial tamponade