Identification of early familial dilated cardiomyopathy by determination of a disease state parameter using cine MR imaging data


J. Koikkalainen, M. Antila, J. Lötjönen, T. Heliö, K. Lauerma, S. Kivistö, P. Sipola, M. Kaartinen, S. Kärkkäinen, E. Reissell, J. Kuusisto, M. Laakso, M. Orešič, M. Nieminen, K. Peuhkurinen

In this study, the research team aimed to develop tools to analyze and visualize findings regarding early changes in cardiac anatomy and function on MRI for carriers of lamin A/C gene (LMNA) mutation. Using MRI, left ventricle and right ventricle volumes, wall thickness, and wall motion were assessed. A global cardiac function index (disease state parameter) was generated based on multiple MRI image parameters, and a visual fingerprint was developed to assess the severity of familial dilated cardiomyopathy (DCM). The disease state parameter was significantly higher in the patients than in the healthy controls, indicating that this new parameter based on MRI could help identify subclinical familial DCM.