Michela Casella1,2, Alessio Gasperetti1,3,4, Rita Sicuso1, Edoardo Conte5, Valentina Catto1, Elena Sommariva6, Marco Bergonti1, Giulia Vettor1, Stefania Rizzo7, Giulio Pompilio6,8, Daniele Andreini5,8, Ardan Muammer Saguner4, Firat Duru4, Andrea Natale9, Gaetano Thiene7, Cristina Basso7, Antonio Dello Russo3, Claudio Tondo1,8. 1. Heart Rhythm Center (M.C., A.G., R.S., V.C., M.B., G.V., C.T.), Centro Cardiologico Monzino IRCCS, Milano. 2. Cardiology and Arrhythmology Clinic, Department of Clinical, Special and Dental Sciences (M.C.), University Hospital "Umberto I-Lancisi-Salesi", Marche Polytechnic University, Ancona, Italy. 3. Cardiology and Arrhythmology Clinic, Department of Biomedical Sciences and Public Health (A.G., A.D.R.), University Hospital "Umberto I-Lancisi-Salesi", Marche Polytechnic University, Ancona, Italy. 4. University Heart Center, University Hospital Zurich, Switzerland (A.G., A.M.S., F.D.). 5. Dipartimento di Imaging Cardiovascolare (E.C., D.A.), Centro Cardiologico Monzino IRCCS, Milano. 6. Unit of Vascular Biology and Regenerative Medicine (E.S., G.P.), Centro Cardiologico Monzino IRCCS, Milano. 7. Cardiovascular Pathology Unit, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Azienda Ospedaliera-University of Padua, Padova (S.R., G.T., C.B.). 8. Department of Clinical Sciences and Community Health, University of Milan, Italy (G.P., D.A., C.T.). 9. Texas Cardiac Arrhythmia Institute, St. David's Hospital, Austin (A.N.).
Abstract
BACKGROUND: Arrhythmogenic left ventricular cardiomyopathy (ALVC) is an under-characterized phenotype of arrhythmogenic cardiomyopathy involving the LV ab initio. ALVC was not included in the 2010 International Task Force Criteria for arrhythmogenic right ventricular cardiomyopathy diagnosis and data regarding this phenotype are scarce. METHODS: Clinical characteristics were reported from all consecutive patients diagnosed with ALVC, defined as a LV isolated late gadolinium enhancement and fibro-fatty replacement at cardiac magnetic resonance plus genetic variants associated with arrhythmogenic right ventricular cardiomyopathy and of an endomyocardial biopsy showing fibro-fatty replacement complying with the 2010 International Task Force Criteria in the LV. RESULTS: Twenty-five patients ALVC (53 [48-59] years, 60% male) were enrolled. T wave inversion in infero-lateral and left precordial leads were the most common ECG abnormalities. Overall arrhythmic burden at study inclusion was 56%. Cardiac magnetic resonance showed LV late gadolinium enhancement in the LV lateral and posterior basal segments in all patients. In 72% of the patients an invasive evaluation was performed, in which electroanatomical voltage mapping and electroanatomical voltage mapping-guided endomyocardial biopsy showed low endocardial voltages and fibro-fatty replacement in areas of late gadolinium enhancement presence. Genetic variants in desmosomal genes (desmoplakin and desmoglein-2) were identified in 12/25 of the cohort presenting pathogenic/likely pathogenic variants. A definite/borderline 2010 International Task Force Criteria arrhythmogenic right ventricular cardiomyopathy diagnosis was reached only in 11/25 patients. CONCLUSIONS: ALVC presents with a preferential involvement of the lateral and postero-lateral basal LV and is associated mostly with variants in desmoplakin and desmoglein-2 genes. An amendment to the current International Task Force Criteria is reasonable to better diagnose patients with ALVC.
BACKGROUND:Arrhythmogenic left ventricular cardiomyopathy (ALVC) is an under-characterized phenotype of arrhythmogenic cardiomyopathy involving the LV ab initio. ALVC was not included in the 2010 International Task Force Criteria for arrhythmogenic right ventricular cardiomyopathy diagnosis and data regarding this phenotype are scarce. METHODS: Clinical characteristics were reported from all consecutive patients diagnosed with ALVC, defined as a LV isolated late gadolinium enhancement and fibro-fatty replacement at cardiac magnetic resonance plus genetic variants associated with arrhythmogenic right ventricular cardiomyopathy and of an endomyocardial biopsy showing fibro-fatty replacement complying with the 2010 International Task Force Criteria in the LV. RESULTS: Twenty-five patients ALVC (53 [48-59] years, 60% male) were enrolled. T wave inversion in infero-lateral and left precordial leads were the most common ECG abnormalities. Overall arrhythmic burden at study inclusion was 56%. Cardiac magnetic resonance showed LV late gadolinium enhancement in the LV lateral and posterior basal segments in all patients. In 72% of the patients an invasive evaluation was performed, in which electroanatomical voltage mapping and electroanatomical voltage mapping-guided endomyocardial biopsy showed low endocardial voltages and fibro-fatty replacement in areas of late gadolinium enhancement presence. Genetic variants in desmosomal genes (desmoplakin and desmoglein-2) were identified in 12/25 of the cohort presenting pathogenic/likely pathogenic variants. A definite/borderline 2010 International Task Force Criteria arrhythmogenic right ventricular cardiomyopathy diagnosis was reached only in 11/25 patients. CONCLUSIONS: ALVC presents with a preferential involvement of the lateral and postero-lateral basal LV and is associated mostly with variants in desmoplakin and desmoglein-2 genes. An amendment to the current International Task Force Criteria is reasonable to better diagnose patients with ALVC.
Entities:
Keywords:
arrhythmogenic right ventricular dysplasia; desmoplakin; gadolinium; heart; left ventricle; phenotype
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