Inherited cardiomyopathies

Abstract

In order to plan optimal management and treatment strategies in patients with a suspected cardiomyopathy, the key initial factor is to establish the diagnosis and underlying etiology at an early stage. While many patients will present with symptoms and demonstrable ventricular dysfunction on echocardiography, often the underlying cause is not apparent, thus necessitating many routine invasive and non-invasive investigations such as angiography, echocardiography, holter monitoring, treadmill testing, and nuclear studies. There has been considerable progress in recent years in the development of imaging technologies which are now able to characterize a much wider number of cardiomyopathic processes than ever before in a non-invasive manner. The advent of gadolinium enhanced cardiac magnetic resonance imaging (CMR) has dramatically changed the non-invasive work-up of patients with a suspected cardiomyopathy. In a single scan setting it is now possible to provide a comprehensive assessment of both ischemic and non-ischemic cardiomyopathies providing detailed information on cardiac anatomy, function, tissue characterization, assessment of epicardial and microvascular perfusion, valvular flows, and coronary and peripheral angiography (Fig. 13.1). This comprehensive examination can be completed in a short period of time, typically 30-45 min, without the need for prolonged breath holds (5-10 s) or 2onizing radiation. establish definitive diagnoses with the greatest degree of clarity, helps guide and monitor therapeutic response, and assists in optimal risk stratification. Gadolinium based contrast agents are remarkably safe and the incidence of adverse reactions or nephrogenic systemic sclerosis (NSF) is exceedingly low. Follow up imaging to monitor progression and response to interventions can be performed safely and without any concern regarding cumulative radiation exposure.