Complexity of Sarcomere Protein Gene Mutations in Restrictive Cardiomyopathy

Abstract

Restrictive cardiomyopathy (RCM) is characterized by impaired filling of the ventricles in the presence of normal wall thickness and systolic function. Although idiopathic RCM is rare compared to other types of cardiomyopathy, the effects are severe. Until recently, many sarcomere genes previously described to be causative mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy have been reported in RCM. Nowadays, it is accepted that primary RCM is also within the spectrum of sarcomere disease. However, the relationship between the identified mutations in sarcomere genes and clinical manifestation are complex, and the possible pathogenic mechanisms are not fully understood. Besides, many RCM-related sarcomere mutations were reported to cause variable clinical phenotype. Occasionally, "phenotype transition" may also be seen in an individual who was previously diagnosed with RCM.

Ο ρόλος της myospryn in vivo και η σημασία της αλληλεπίδρασής της με τη δεσμινή

“…Πίνακας 2: Γονίδια-στόχοι μεταλλάξεων που ευθύνονται για τη διατατική μυοκαρδιοπάθεια (Cahill TJ et al 2013;Dal Ferro M et al 2019;Li CJ et al 2019 ). Growth factor TGFB3 ARVC3 ARVC6 Πίνακας 6: Γονίδια-στόχοι μεταλλάξεων που ευθύνονται για την περιοριστική μυοκαρδιοπάθεια (Kostareva A et al 2016;Wang S and Peng D, 2017;Li CJ et al 2019). H αλληλούχιση επόμενης γενιάς (Next Generation Sequencing/NGS) θα οδηγήσει στον εντοπισμό επιπλέον γενετικών παραλλαγών που τροποποιούν τον φαινότυπο των μυοκαρδιοπαθειών (Parikh VN and Ashley EA, 2017).…”