Characteristics of Patients with Arrhythmogenic Left Ventricular Cardiomyopathy: Combining Genetic and Histopathologic Findings

Michela Casella, Alessio Gasperetti, Rita Sicuso, Edoardo Conte, Valentina Catto, Elena Sommariva, Marco Bergonti, Giulia Vettor, Stefania Rizzo, Giulio Pompilio, Daniele Andreini, Ardan Muammer Saguner, Firat Duru, Andrea Natale, Gaetano Thiene, Cristina Basso, Antonio Dello Russo, Claudio Tondo

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article numbere009005
JournalCirculation: Arrhythmia and Electrophysiology
DOIs
Publication statusAccepted/In press - 2020

Keywords

  • arrhythmogenic right ventricular dysplasia
  • desmoplakin
  • gadolinium
  • heart
  • left ventricle
  • phenotype

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Fingerprint

Dive into the research topics of 'Characteristics of Patients with Arrhythmogenic Left Ventricular Cardiomyopathy: Combining Genetic and Histopathologic Findings'. Together they form a unique fingerprint.

Cite this