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

Maria Chiara Meucci, Rosa Lillo, Antonella Lombardo, Gaetano A. Lanza, Marianne Bootsma, Steele C. Butcher, Massimo Massetti, Raffaele Manna, Jeroen J. Bax, Filippo Crea, Nina Ajmone Marsan, Francesca Graziani

Research output: Contribution to journalArticlepeer-review

2 Citations (Web of Science)


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 (RVGLS) 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
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.
Original languageEnglish
Article number151
Number of pages10
JournalEuropean Heart Journal Cardiovascular Imaging
Publication statusE-pub ahead of print - 28 Jul 2022
Externally publishedYes


Dive into the research topics of 'Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy'. Together they form a unique fingerprint.

Cite this