NCT02922517

Predictive Factors and Consequences of Myocardial Fibrosis in Hypertrophic Cardiomyopathy

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 115 (estimated)
• Sponsor: Nantes University Hospital · Academic / Other
• Sex: All
• Age: 16 Years
• Healthy volunteers: Not accepted

Summary

Fibrosis, myocardial deformation and biomarkers in hypertrophic cardiomyopathy (HCM)

Detailed description

Hypertrophic cardiomyopathy (HCM) is a rare genetic disease (1), whose phenotypic expression is found in less than 1/1000 people, mainly linked to a mutation of a protein of the sarcomere (14 genes and 400 mutations identified nowadays). HCM occurs in about 50% of cases in young adults under the age of 30 years. Progress in the identification of the responsible mutation does not have allowed significant advances for the clinical management and evaluation of the prognosis of patients with HCM. In fact, the link between genotype and phenotype is poor in the HCM, so that identification of the mutation in approximately 60% of patients does not properly characterize the disease and its evolution. It is therefore necessary to identify new markers to better characterize HCM patients. Myocardial fibrosis could be a severity marker of the HCM but its consequences and determinants are little known or unknown. The objective of this work is to identify the determinants and consequences of myocardial fibrosis in HCM, particularly the relationship between fibrosis and left ventricular dysfunction assessed by the analysis of myocardial deformation and between fibrosis and heart failure. The study of fibrosis, which concerns 30 to 70% of patients and replace 1 to 70% of the myocardial tissue, is made possible in vivo by analysis of delayed enhancement gadolinium in MRI. This work aims to study the relationship between myocardial fibrosis, heart function assessed by myocardial deformation, heart failure, and biological profile (proteomics) of patients at rest and after exertion. This study is an observational research. Indeed, all examinations are done as part of usual care patients. Only additional tubes of blood are collected in the initial biological assessment.

Conditions

• Hypertrophic Cardiomyopathy

Timeline

• Start date: 2014-06-01
• Primary completion: 2021-12-01
• Completion: 2021-12-01
• First posted: 2016-10-04
• Last updated: 2021-09-09

Locations

1 site across 1 country: France