Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Apr 29.
doi: 10.1002/ejhf.3671. Online ahead of print.

Integrated role of cardiac magnetic resonance and genetics in predicting left ventricular reverse remodelling in dilated and non-dilated cardiomyopathy

Martina Setti #  1   2   3 , Manuela Iseppi #  1   2   4 , Job A J Verdonschot  2   5   6 , Jacopo G Rizzi  1   2 , Alessia Paldino  1   2 , Carola Pio Loco Detto Gava  1   2 , Giulia Barbati  7 , Matteo Dal Ferro  1   2 , Max F G H M Venner  2   5 , Anne G Raafs  2   5   8 , Marta Gigli  1   2 , Davide Stolfo  1   2   9   10 , Antonio De Luca  1   2 , Giulia De Angelis  1   2   10 , Teresa M Capovilla  1   2 , Sharon Graw  11 , Flavio L Ribichini  3 , Matthew Taylor  11 , Luisa Mestroni  11 , Stephane R B Heymans  2   5   12 , Gianfranco Sinagra #  1   2 , Marco Merlo #  1   2
Affiliations

Integrated role of cardiac magnetic resonance and genetics in predicting left ventricular reverse remodelling in dilated and non-dilated cardiomyopathy

Martina Setti et al. Eur J Heart Fail. .

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%.

Keywords: Arrhythmogenic genes; Cardiac magnetic resonance; Dilated cardiomyopathy; Left ventricular reverse remodelling; Non dilated left ventricular cardiomyopathy; Ring‐like late gadolinium enhancement.

PubMed Disclaimer

References

    1. Cohn JN, Ferrari R, Sharpe N. Cardiac remodeling – concepts and clinical implications: A consensus paper from an international forum on cardiac remodeling. J Am Coll Cardiol 2000;35:569–582. https://doi.org/10.1016/s0735‐1097(99)00630‐0
    1. Escobar‐Lopez L, Ochoa JP, Mirelis JG, Espinosa M, Navarro M, Gallego‐Delgado M, et al. Association of genetic variants with outcomes in patients with nonischemic dilated cardiomyopathy. J Am Coll Cardiol 2021;78:1682–1699. https://doi.org/10.1016/j.jacc.2021.08.039
    1. Tayal U, Prasad SK. Myocardial remodelling and recovery in dilated cardiomyopathy. JRSM Cardiovasc Dis 2017;6:2048004017734476. https://doi.org/10.1177/2048004017734476
    1. Merlo M, Pyxaras SA, Pinamonti B, Barbati G, Di Lenarda A, Sinagra G. Prevalence and prognostic significance of left ventricular reverse remodeling in dilated cardiomyopathy receiving tailored medical treatment. J Am Coll Cardiol 2011;57:1468–1476. https://doi.org/10.1016/j.jacc.2010.11.030
    1. Hoshikawa E, Matsumura Y, Kubo T, Okawa M, Yamasaki N, Kitaoka H, et al. Effect of left ventricular reverse remodeling on long‐term prognosis after therapy with angiotensin‐converting enzyme inhibitors or angiotensin II receptor blockers and β blockers in patients with idiopathic dilated cardiomyopathy. Am J Cardiol 2011;107:1065–1070. https://doi.org/10.1016/j.amjcard.2010.11.033

LinkOut - more resources