Living with cardiomyopathy: Patients’ pathways and unmet needs

Cardiomyopathies (CMs) are a heterogeneous group of pathologies characterized by structural and functional alterations of the heart [1].Recent studies suggest that traditional classification methods fall short in meeting the precise needs of contemporary managing CMs [2].These conditions are currently described from the perspective of morphology, function, and genomics in hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular noncompaction, and partially acquired cardiomyopathy [3].However, such broad categorization fails to capture the intricate variations and complexities inherent in CMs.In the last decade, advances in diagnostic techniques have enabled to move from a mechanistic to a phenotypic and then etiological approach in the work-up of CM patients.As a consequence, several new therapies that interfere with the pathophysiological pathways of CMs, either by targeting the phenotype or by targeting the etiology, are now available [4].As an example, mavacamten can be used in sarcomeric hypertrophic CM, tafamidis in transthyretin cardiac amyloidosis, migalastat in Fabry disease, and myosin stimulators in dilated CM.Although CMs are generally considered to be rare, their burden is substantial and occurs worldwide, across all ages, sexes, and ethnic groups.