RNA‐seq profiling reveals different pathways between remodeled vessels and myocardium in hypertrophic cardiomyopathy

Abstract

Objective: Coronary microvascular dysfunction (CMD) is a key pathophysiological feature of hypertrophic cardiomyopathy (HCM), contributing to myocardial ischemia and representing a critical determinant of patients' adverse outcome. The molecular mechanisms underlying the morphological and functional changes of CMD are still unknown. Aim of this study was to obtain insights on the molecular pathways associated with microvessel remodeling in HCM. Methods: Interventricular septum myectomies from patients with obstructive HCM (n = 20) and donors' hearts (CTRL, discarded for technical reasons, n = 7) were collected. Remodeled intramyocardial arterioles and cardiomyocytes were microdissected by laser capture and next-generation sequencing was used to delineate the transcriptome profile.

Personalized Management of Sudden Death Risk in Primary Cardiomyopathies: From Clinical Evaluation and Multimodality Imaging to Ablation and Cardioverter-Defibrillator Implant

“…The color display for depicting normal and abnormal voltage myocardium ranges from "red" representing "electroanatomic scar tissue" (amplitude < 0.5 mV) to "purple" representing "electroanatomic normal tissue" (amplitude ≥ 1.5 mV). Intermediate colors represent the "electroanatomic border zone" (signal amplitudes between 0.5 and 1.5 mV) (1,3). A relatively sharp border, as identified by a steep spatial voltage gradient, could be used to demarcate the dysplastic regions.…”

“…Finally, the sequencing of the entire human genome in 2003 brought a huge boost in understanding the genetic background of diseases. Nowadays, medical science is moving beyond the border of the genome towards new horizons (proteome, metabolome, and epigenome) in order to bridge the gap between genotype and phenotype [ 3 , 4 ]. Personalized medicine (PM) was defined by Horizon 2020 Advisory Group as “ a medical model using characterization of individuals’ phenotypes and genotypes for tailoring the right therapeutic strategy for the right person at the right time, and/or to determine the predisposition to disease and/or to deliver timely and targeted prevention ” [ 5 ].…”