Hypertrophic cardiomyopathy

Question 1

What is hypertrophic cardiomyopathy?

Answer 1

An autosomal dominant disorder characterised by left ventricular hypertrophy (LVH), impaired diastolic filling and abnormalities of the mitral valve.

Most common cause of sudden cardiac death in young people.

Question 2

Clinical features of hypertrophic cardiomyopathy?

Answer 2

Many cases are asymptomatic and are detected by family screening of an affected individual or by routine ECG examination.

When present, clinical features include:
- Exertional syncope
- Shortness of breath
- Chest pain
- Palpitations (AF)
- Heart failure
- Double apex pulse

Question 3

Aetiology of hypertrophic cardiomyopathy?

Answer 3

Most common genetic heart condition

60% of patients have an autosomal dominant mutation in sarcomeric genes.

Question 4

Investigations for hypertrophic cardiomyopathy?

Answer 4

ECG: may show a variety of changes including Leftr ventricular hypertrophy, ST and T wave changes and abnormal Q waves.

Echo: usually diagnostic, can demonstrate septal hypertrophy

Cardiac MRI: can measure the extent of left ventricular hypertrophy

Genetic testing

Question 5

Management of hypertrophic cardiomyopathy?

Answer 5

Patients with 2 or more risk factors for sudden cardiac death should be assessed for ICD insertion.