Towards etiological treatments in cardiomyopathies - 24/02/24

Doi : 10.1016/j.lpm.2024.104223

Olivier Lairez ^a,^b,^c,^d,^⁎ , Pauline Fournier ^a,^b, Romain Itier ^a,^b, Bérengère Bachelet ^a, Antoine Huart ^e, Eve Cariou ^a,^b
^a Department of Cardiology, Toulouse University Hospital, Toulouse, France
^b Cardiac Imaging Center, Toulouse University Hospital, Toulouse, France
^c Department of Nuclear Medicine, Toulouse University Hospital, France
^d Medical School, Toulouse III Paul Sabatier University, Toulouse, France
^e Department of Nephrology and Organ Transplantation, Toulouse University Hospital, Toulouse, France

^⁎Corresponding author at: Department of Cardiology, Toulouse University Hospital, 1, avenue Jean Poulhès, TSA, 50032, 31059 Toulouse Cedex 9, France.Department of CardiologyToulouse University Hospital1, avenue Jean Poulhès, TSA, 50032, 31059 Toulouse Cedex 9France

Abstract

This review proposes to look at the evolution of cardiomyopathy treatments in the light of advances in diagnostic techniques, which have enabled to move from a mechanistic to a phenotypic and then etiological approach. The article goes beyond the ejection fraction approach, and look at new therapies that target the pathophysiological pathways of cardiomyopathies, either by targeting the phenotype, or by targeting the etiology. The evolution of HCM treatments is detailed, culminating in the latest etiological treatments such as mavacamten in sarcomeric HCM, tafamidis in transthyretin cardiac amyloidosis and migalastat in Fabry disease. Myosin stimulators are reviewed in the treatment of DCM, before opening perspectives for gene therapy, which proposes direct treatment of the culprit mutation.

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Keywords : Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiac amyloidosis, Fabry disease, Dilated cardiomyopathy, Arrhythmogenic cardiomyopathy, Targeted-therapy

Abbreviations : asRNA, AL, ATTR, DCM, DWORF, ERT, HCM, siRNA