Table of Contents
Part 1: Dilated Cardiomyopathy
Part 2: Hypertrophic Cardiomyopathy
Part 3: Restrictive Cardiomyopathy
Part 4: Arrhythmogenic Cardiomyopathy
Introduction
Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy, characterised by decreased elasticity of the ventricular walls leading to altered ventricular filling pressures in the presence of normal wall thickness and normal systolic function 1. The definition of RCM has always been difficult because restrictive physiology can occur in various pathologies. According to the European Society of Cardiology, the diagnosis of RCM is supported by a restrictive physiology that occurs in the presence of normal or reduced diastolic and systolic ventricular volumes, with normal parietal thickness 2. Although systolic function is considered to be preserved by definition, subclinical contractility abnormalities may exist.
The exact incidence of CMR is difficult to establish, especially in the context of such a diverse aetiology. It is considered the rarest cardiomyopathy, especially in its familial and idiopathic forms, respectively.
Cardiac imaging has a particular value in these heterogeneous group of cardiac diseases, given the importance of a correct differential diagnosis, with respect to prompt disease-modifying interventions, as well as prognostic information. Using a combination of multimodality imaging, including echocardiography, cardiac CT, cardiac MR and nuclear techniques, diagnostic precision has increased.
Echocardiography is the first step towards identifying RCM, requiring also an initial differential diagnosis with CP, given the similar clinical picture. The commonest description of RCM includes: normal or small LV cavity size (<40ml/m2) with preserved LV ejection fraction, bi-atrial enlargement and diastolic dysfunction 3. Of note, typical restrictive physiology can be seen in advanced stages of RCM 4, diastolic dysfunction evolving from Grade I to III according to disease progression. Evaluation of impaired longitudinal dysfunction, a common finding in most forms of RCM, should be done using two-dimensional deformation imaging 5. Two-dimensional speckle-tracking can be of utmost importance in certain diseases, as the combination of marked reduction of longitudinal strain in LV basal segments, with apical sparing and increased E/e’ ratio is highly suggestive of cardiac amyloidosis (CA) 6,7, and a reduction of longitudinal strain in the basal lateral wall can be characteristic of Fabry disease even in the absence of fibrosis 8.
Cardiovascular magnetic resonance (CMR) is an asset in view of confirming a diagnosis suggested by echocardiographic evaluation. In addition to static images that provide tissue characterisation using T1/T2 weighted scans, cine images allow accurate evaluation of chamber size, volume and cardiac function 9. Phase-velocity-encoding sequences used for mitral inflow measurements show good correlations with echocardiographic findings 10.
Tissue characterisation using gadolinium enhanced imaging can be relevant for differential diagnosis of certain RCMs, given their distinct patterns of contrast uptake. In addition, myocardial mapping allows for both spatial visualisation and quantification of focal and diffuse involvement of various diseases 11, being an invaluable tool in detecting amyloid/ iron deposition.
Cardiac computed tomography (CT) has demonstrated its clinical utility mainly by morphological description of cardiac structures, characterisation of the pericardium being useful for the exclusion of constrictive pericarditis (CP). Extra-cardiac involvement of systemic conditions can also be evaluated using CT.
Nuclear imaging has a mainstream role in diagnosing two types of RCMs, amyloidosis and sarcoidosis. Scintigraphy with radiolabelled phosphate derivates is a valuable alternative diagnostic tool to CMR, especially in ATTR amyloidosis, given its very high sensitivity (up to 100%), but also for differentiating AL amyloidosis (minimal uptake of 99mTc-DPD/ 99mTc-PYP) and sarcomeric HCM 12,13. Fluorodeoxyglucose positron emission tomography (18F-FDG-PET) imaging has its clinical utility in detecting cardiac sarcoidosis, given the accumulation of this radiotracer in the inflammatory cells 14.
Non-invasive imaging techniques are of paramount importance in the diagnosis, therapeutic approach, risk-stratification and prognosis estimation in the assessment of patients with RCMs.
Presentations
References
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