Autosomal dominant genetic disorder characterised by left ventricular hypertrophy (LVH), impaired diastolic filling, and abnormalities of the mitral valve; it is the most common cause of sudden cardiac death in young people
Aetiology
Genetic - 60% of patients have an autosomal dominant mutation in sarcomeric genes
Pathophysiology
Portion of the heart becomes thickened, resulting in diastolic dysfunction - heart is unable to fully relax
Eventually leads to outflow obstruction
Clinical presentation
Many cases are asymptomatic and are detected by family screening of an affected individual or by a routine ECG examination
Sudden death occurs at any age but the highest rates occur in adolescents or young adults
When present, symptoms include dyspnoea, AF, syncope, palpitations and angina
Investigations
ECG changes - LV hypertrophy, ST and T wave changes, abnormal Q waves
Echocardiography is usually diagnostic
Management
Patients with 2 or more risk factors for sudden cardiac death should be assessed for ICD insertion
RF include massive LH hypertrophy, prior unexplained syncope and family history of sudden cardiac death
Chest pain and dyspnoea are treated with beta-blockers and verapamil (alone or in combination)
Made with Bullet