Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

• Published in: European heart journal cardiovascular imaging Vol. 24; no. 4; pp. 542 - 551
• Main Authors: Meucci, Maria Chiara, Lillo, Rosa, Lombardo, Antonella, Lanza, Gaetano A, Bootsma, Marianne, Butcher, Steele C, Massetti, Massimo, Manna, Raffaele, Bax, Jeroen J, Crea, Filippo, Ajmone Marsan, Nina, Graziani, Francesca
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 21-03-2023
• Subjects: Cardiomyopathies; Cardiomyopathy, Hypertrophic - diagnostic imaging; Cardiomyopathy, Hypertrophic - genetics; Fabry Disease - complications; Fabry Disease - diagnostic imaging; Fabry Disease - genetics; Heart Ventricles; Humans; Hypertrophy, Left Ventricular; Original Paper; Fabry disease; hypertrophic cardiomyopathy; speckle-tracking echocardiography; right ventricle; strain analysis
• ISSN: 2047-2404; 2047-2412
• DOI: 10.1093/ehjci/jeac151

Abstract
Aims
To perform a comparative analysis of right ventricle (RV) myocardial mechanics, assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry disease and patients with sarcomeric disease.
Methods and results
Patients with Fabry cardiomyopathy (FC) (n = 28) were compared with patients with sarcomeric hypertrophic cardiomyopathy (HCM), matched for degree of left ventricle hypertrophy (LVH) and demographic characteristics (n = 112). In addition, patients with Fabry disease and no LVH [phenotype-negative carriers of pathogenic α-galactosidase gene mutations (GLA LVH-)] (n = 28) were compared with age and sex-matched carriers of sarcomeric gene mutations without LVH [Phenotype-negative carriers of pathogenic sarcomeric gene mutations (Sarc LVH-)] (n = 56). Standard echocardiography and 2D-STE were performed in all participants. Despite a subtle impairment of RV global longitudinal strain (RV-GLS) was common in both groups, patients with FC showed a more prominent reduction of RV free wall longitudinal strain (RV-FWS) and lower values of difference between RV-FWS and RV-GLS (ΔRV strain), in comparison to individuals with HCM (P < 0.001 and P = 0.002, respectively). RV-FWS and ΔRV strain demonstrated an independent and additive value in discriminating FC from HCM, over the presence of symmetric LVH, systolic anterior motion of the mitral valve and RV hypertrophy. Similar results were found in GLA LVH- patients: they had worse RV-FWS and lower values of ΔRV strain as compared to Sarc LVH- patients (both P < 0.001).
Conclusion
Patients with FC show a specific pattern of RV myocardial mechanics, characterized by a larger impairment of RV-FWS and lower ΔRV strain in comparison to patients with HCM, which may be helpful in the differential diagnosis between these two diseases.
Graphical Abstract
Graphical Abstract