Inherited cardiac muscle disorders: Hypertrophic and restrictive cardiomyopathies

Abstract

Inherited cardiomyopathies as a collective group, are relatively common cardiac disorders. Individuals can present with symptoms of chest pain, dyspnoea, palpitations, syncope and with progressive heart failure or sudden cardiac death. Genetic mutations are the commonest cause of these disorders; having implications for both the affected proband and their extended family. Early identification of the disease process can allow institution of treatment with pharmacological and non-pharmacological therapy to ameliorate symptoms, retard disease progression and in some cases prolong life by changing the natural course of the disease. An appreciation of the underlying genetics is essential to understand the molecular basis of disease as well as to help identify other individuals at risk of developing the disease phenotype. The following chapter provides insight into the genetic aetiology underlying these diverse disease processes and the clinical management of these inherited cardiomyopathies.