The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage

Augusto, João B; Johner, Nicolas; Shah, Dipen; Nordin, Sabrina; Knott, Kristopher D; Rosmini, Stefania; Lau, Clement; Alfarih, Mashael; Hughes, Rebecca; Seraphim, Andreas; Vijapurapu, Ravi; Bhuva, Anish; Lin, Linda; Ojrzyńska, Natalia; Geberhiwot, Tarekegn; Captur, Gabriella; Ramaswami, Uma; Steeds, Richard P; Kozor, Rebecca; Hughes, Derralynn; Moon, James C; Namdar, Mehdi

doi:10.1093/ehjci/jeaa101

Scientific article

English

The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage

Published inEuropean Heart Journal Cardiovascular Imaging

Publication date2020

Abstract

Cardiac involvement in Fabry disease (FD) occurs prior to left ventricular hypertrophy (LVH) and is characterized by low myocardial native T1 with sphingolipid storage reflected by cardiovascular magnetic resonance (CMR) and electrocardiogram (ECG) changes. We hypothesize that a pre-storage myocardial phenotype might occur even earlier, prior to T1 lowering.

Keywords

Fabry disease
Cardiovascular magnetic resonance
Electrocardiogram
Global longitudinal strain
Microvascular dysfunction

Affiliation entities

Faculté de médecine / Section de médecine clinique / Département de médecine

Research groups

Electrophysiologie (666)

Citation (ISO format)

AUGUSTO, João B et al. The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage. In: European Heart Journal Cardiovascular Imaging, 2020. doi: 10.1093/ehjci/jeaa101

Article (Published version)

CC BY-NC

Identifiers

PID : unige:148838
DOI : 10.1093/ehjci/jeaa101
PMID : 32514567

Journal ISSN2047-2404

222views

100downloads

Creation12/10/2020 11:01:00

First validation12/10/2020 11:01:00

Update time23/01/2025 15:32:30

Status update23/01/2025 15:32:30

Last indexation23/01/2025 15:33:59

Archive ouverte UNIGE

The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage

Technical informations