Review
Version 1
Preserved in Portico This version is not peer-reviewed
Genetic Insights Into Primary Restrictive Cardiomyopathy
Version 1
: Received: 17 March 2022 / Approved: 18 March 2022 / Online: 18 March 2022 (09:05:21 CET)
A peer-reviewed article of this Preprint also exists.
Brodehl, A.; Gerull, B. Genetic Insights into Primary Restrictive Cardiomyopathy. J. Clin. Med. 2022, 11, 2094. Brodehl, A.; Gerull, B. Genetic Insights into Primary Restrictive Cardiomyopathy. J. Clin. Med. 2022, 11, 2094.
Abstract
Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality. Since a poor clinical prognosis, patients with restrictive cardiomyopathy require frequently heart transplantation. Genetic as well as non-genetic factors contribute to restrictive cardiomyopathy and a significant portion of cases remains of unknown etiology. However, the genetic forms of restrictive cardiomyopathy and the involved molecular pathomechanisms are only partially understood. In this review, we summarize the current knowledge about primary genetic restrictive cardiomyopathy and describe its genetic landscape, which might be of interest for geneticists as well as for cardiologists.
Keywords
Restrictive Cardiomyopathy; Cardiomyopathy; Cardiovascular Genetics; Desmin; Troponin; Filamin-C
Subject
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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