Giovanni Peretto1,2, Andrea Barison3,4, Cinzia Forleo5, Chiara Di Resta2,6, Antonio Esposito2,7, Giovanni Donato Aquaro3, Arnaldo Scardapane8, Anna Palmisano2,7, Michele Emdin3,4, Nicoletta Resta9, Anna Santoni10, Andrea Igoren Guaricci5, Vincenzo Ezio Santobuono5, Martino Pepe5, Stefano Favale5, Maurizio Ferrari2, Sara Benedetti11, Paolo Della Bella1, Simone Sala1. 1. Department of Arrhythmology and Cardiac Electrophysiology, IRCCS San Raffaele Hospital, Milan, Italy. 2. San Raffaele Vita-Salute University, Milan, Italy. 3. Department of Cardiovascular Imaging, Fondazione Toscana Gabriele Monasterio, Pisa, Italy. 4. Institute of Life Sciences, Scuola Superiore Sant'Anna, Pisa, Italy. 5. Cardiology Unit, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy. 6. Genomic Unit for the Diagnosis of Human Pathologies, Division of Genetics and Cellular Biology, IRCCS San Raffaele Hospital, Milan, Italy. 7. Department of Cardiovascular Imaging, IRCCS San Raffaele Hospital, Milan, Italy. 8. Interdisciplinary Department of Medicine, Section of Radiology, University of Bari Aldo Moro, Bari, Italy. 9. Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology, University of Bari Aldo Moro, Bari, Italy. 10. Genomic Unit for the Diagnosis of Human Pathologies, Clinical Division, IRCCS San Raffaele Hospital, Milan, Italy. 11. Laboratory of Clinical Molecular Biology and Cytogenetics, IRCCS San Raffaele Hospital, Milan, Italy.
Abstract
AIMS: We aimed at addressing the role of late gadolinium enhancement (LGE) in arrhythmic risk stratification of LMNA-associated cardiomyopathy (CMP). METHODS AND RESULTS: We present data from a multicentre national cohort of patients with LMNA mutations. Of 164 screened cases, we finally enrolled patients with baseline cardiac magnetic resonance (CMR) including LGE sequences [n = 41, age 35 ± 17 years, 51% males, mean left ventricular ejection fraction (LVEF) by echocardiogram 56%]. The primary endpoint of the study was follow-up (FU) occurrence of malignant ventricular arrhythmias [MVA, including sustained ventricular tachycardia (VT), ventricular fibrillation, and appropriate implantable cardioverter-defibrillator (ICD) therapy]. At baseline CMR, 25 subjects (61%) had LGE, with non-ischaemic pattern in all of the cases. Overall, 23 patients (56%) underwent ICD implant. By 10 ± 3 years FU, eight patients (20%) experienced MVA, consisting of appropriate ICD shocks in all of the cases. In particular, the occurrence of MVA in LGE+ vs. LGE- groups was 8/25 vs. 0/16 (P = 0.014). Of note, no significant differences between LGE+ and LGE- patients were found in currently recognized risk factors for sudden cardiac death (male gender, non-missense mutations, baseline LVEF <45% and non-sustained VT), all P-value >0.05. CONCLUSIONS: In LMNA-CMP patients, LGE at baseline CMR is significantly associated with MVA. In particular, as suggested by this preliminary experience, the absence of LGE allowed to rule-out MVA at 10 years mean FU. Published on behalf of the European Society of Cardiology. All rights reserved.
AIMS: We aimed at addressing the role of late gadolinium enhancement (LGE) in arrhythmic risk stratification of LMNA-associated cardiomyopathy (CMP). METHODS AND RESULTS: We present data from a multicentre national cohort of patients with LMNA mutations. Of 164 screened cases, we finally enrolled patients with baseline cardiac magnetic resonance (CMR) including LGE sequences [n = 41, age 35 ± 17 years, 51% males, mean left ventricular ejection fraction (LVEF) by echocardiogram 56%]. The primary endpoint of the study was follow-up (FU) occurrence of malignant ventricular arrhythmias [MVA, including sustained ventricular tachycardia (VT), ventricular fibrillation, and appropriate implantable cardioverter-defibrillator (ICD) therapy]. At baseline CMR, 25 subjects (61%) had LGE, with non-ischaemic pattern in all of the cases. Overall, 23 patients (56%) underwent ICD implant. By 10 ± 3 years FU, eight patients (20%) experienced MVA, consisting of appropriate ICD shocks in all of the cases. In particular, the occurrence of MVA in LGE+ vs. LGE- groups was 8/25 vs. 0/16 (P = 0.014). Of note, no significant differences between LGE+ and LGE- patients were found in currently recognized risk factors for sudden cardiac death (male gender, non-missense mutations, baseline LVEF <45% and non-sustained VT), all P-value >0.05. CONCLUSIONS: In LMNA-CMP patients, LGE at baseline CMR is significantly associated with MVA. In particular, as suggested by this preliminary experience, the absence of LGE allowed to rule-out MVA at 10 years mean FU. Published on behalf of the European Society of Cardiology. All rights reserved.
Authors: Adriana Argentiero; Giuseppe Muscogiuri; Mark G Rabbat; Chiara Martini; Nicolò Soldato; Paolo Basile; Andrea Baggiano; Saima Mushtaq; Laura Fusini; Maria Elisabetta Mancini; Nicola Gaibazzi; Vincenzo Ezio Santobuono; Sandro Sironi; Gianluca Pontone; Andrea Igoren Guaricci Journal: J Clin Med Date: 2022-05-19 Impact factor: 4.964