The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions

Abstract

In the ESC 2023 guidelines, cardiomyopathies are conservatively defined as ‘myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality’. They are morpho-functionally classified as hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy with the addition of the left ventricular non-dilated cardiomyopathy that describes intermediate phenotypes not fulfilling standard disease definitions despite the presence of myocardial disease on cardiac imaging or tissue analysis. The new ESC guidelines provide ‘a guide to the diagnostic approach to cardiomyopathies, highlight general evaluation and management issues, and signpost the reader to the relevant evidence base for the recommendations’. The recommendations and suggestions included in the document provide the tools to build up pathways tailored to specific cardiomyopathy (phenotype and cause) and define therapeutic indications, including target therapies where possible. The impact is on clinical cardiology, where disease-specific care paths can be assisted by the guidelines, and on genetics, both clinics and testing, where deep phenotyping and participated multi-disciplinary evaluation provide a unique tool for validating the pathogenicity of variants. The role of endomyocardial biopsy remains underexploited and confined to particular forms of restrictive cardiomyopathy, myocarditis, and amyloidosis. New research and development will be needed to cover the gaps between science and clinics. Finally, the opening up to disciplines such as bioinformatics, bioengineering, mathematics, and physics will support clinical cardiologists in the best governance of the novel artificial intelligence–assisted resources.

Are Endomyocardial Ventricular Biopsies Useful for Assessing Myocardial Fibrosis?

“…It is also crucial for those with clinically suspected autoimmune myocarditis, cardiac sarcoidosis, storage diseases, infiltrative diseases, cardiac tumors, and in monitoring rejection status in heart transplant patients. Endomyocardial biopsy is an accurate diagnostic tool for restrictive cardiodesminopathies, myocardial iron overload (both intramyocellular as seen in HFE hemochromatosis and mitochondrial in Friedreich’s ataxic cardiomyopathy), cystinosis, and lysosomal storage diseases such as Fabry disease [ 6 ]. When interpreting GLA mutations or initiating therapy is contentious, an EMB may be necessary, thus providing definitive evidence of AFD by demonstrating fine granular vacuolization via Sudan black staining, concentric lamellar bodies formed by Gb3, and typical lysosomal inclusions or “zebra” bodies under electron microscopy.…”