Integrated Role of Cardiac Magnetic Resonance and Genetics in Predicting Left Ventricular Reverse Remodelling in Dilated and Non-Dilated Cardiomyopathy
Year: 2025
Type: article
Study design: Observational Study
Abstract: AIMS: Left ventricular reverse remodelling (LVRR) is a prognostic marker in patients with dilated (DCM) and non-dilated left ventricular cardiomyopathy (NDLVC). The utility of combining late gadolinium enhancement (LGE) and genetic testing in predicting LVRR in DCM/NDLVC remains a knowledge gap. This study aimed to assess an integrated approach including LGE data and genetics to predict LVRR in DCM/NDLVC patients. METHODS AND RESULTS: This multicentre observational study included DCM/NDLVC patients with: (i) baseline echocardiographic left ventricular ejection fraction (LVEF) <50%; (ii) genetic testing; (iii) baseline cardiac magnetic resonance (CMR); (iv) 12-month follow-up echocardiographic data. LVRR was defined as LVEF increase ≥10% or LVEF ≥50% (if baseline LVEF <45%) at 12 months. Outcome measures were: (i) all-cause mortality, heart transplant, or left ventricular assist device implantation (D/HT/LVAD); (ii) sudden cardiac death or major ventricular arrhythmias (SCD/MVA). Arrhythmogenic genes studied were LMNA, DSP, FLNC, and RBM20. Among 1757 DCM/NDLVC with genetic data, 616 met eligibility (462 DCM, 154 NDLVC; age 51 ± 14 years, 34% female). LVRR occurred in 314 patients (51%): 251 (54%) in DCM and 63 (41%) in NDLVC (p = 0.004). Independent predictors of LVRR within 1 year included titin truncating variants, absence of arrhythmogenic genes, and absence of LGE ring-like pattern. In patients with LVEF <35%, only the presence of LGE ring-like pattern and arrhythmogenic genes remained independently related to a lower rate of LVRR and increased SCD/MVA risk. CONCLUSION: In a large genetically and CMR characterized DCM/NDLVC cohort, arrhythmogenic genotypes and LGE ring-like pattern were inversely related to LVRR, particularly in patients with LVEF <35%.
DOI: 10.1002/ejhf.3671
Authors: Martina Setti, Manuela Iseppi, Job A.J. Verdonschot, Jacopo G. Rizzi, Alessia Paldino, Carola Pio Loco Detto Gava, Giulia Barbati, Matteo Dal Ferro, Max F.G.H.M. Venner, Anne G. Raafs, Marta Gigli, Davide Stolfo, Antonio De Luca, Giulia De Angelis, Teresa M. Capovilla, Sharon Graw, Flavio L. Ribichini, Matthew Taylor, Luisa Mestroni, Stephane R.B. Heymans, Gianfranco Sinagra, Marco Merlo
Institutions: University of Verona, University of Trieste, ERN GUARD-Heart, Azienda sanitaria universitaria Giuliano Isontina, Ospedale Santa Chiara, Provincia Autonoma di Trento, Maastricht University Medical Centre, Maastricht University, Catharina Ziekenhuis, Karolinska Institutet, Azienda sanitaria universitaria Friuli Centrale, University of Colorado Anschutz, KU Leuven
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $5,300
OpenAlex ID: W4409955396