PMID- 32514567
OWN - NLM
STAT- MEDLINE
DCOM- 20210805
LR  - 20210805
IS  - 2047-2412 (Electronic)
IS  - 2047-2404 (Print)
IS  - 2047-2404 (Linking)
VI  - 22
IP  - 7
DP  - 2021 Jun 22
TI  - The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable 
      storage.
PG  - 790-799
LID - 10.1093/ehjci/jeaa101 [doi]
AB  - AIMS: 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. METHODS AND RESULTS: FD 
      patients and age-, sex-, and heart rate-matched healthy controls underwent 
      same-day ECG with advanced analysis and multiparametric CMR [cines, global 
      longitudinal strain (GLS), T1 and T2 mapping, stress perfusion (myocardial blood 
      flow, MBF), and late gadolinium enhancement (LGE)]. One hundred and fourteen 
      Fabry patients (46 +/- 13 years, 61% female) and 76 controls (49 +/- 15 years, 50% 
      female) were included. In pre-LVH FD (n = 72, 63%), a low T1 (n = 32/72, 44%) was 
      associated with a constellation of ECG and functional abnormalities compared to 
      normal T1 FD patients and controls. However, pre-LVH FD with normal T1 
      (n = 40/72, 56%) also had abnormalities compared to controls: reduced GLS 
      (-18 +/- 2 vs. -20 +/- 2%, P < 0.001), microvascular changes (lower MBF 2.5 +/- 0.7 vs. 
      3.0 +/- 0.8 mL/g/min, P = 0.028), subtle T2 elevation (50 +/- 4 vs. 48 +/- 2 ms, 
      P = 0.027), and limited LGE (%LGE 0.3 +/- 1.1 vs. 0%, P = 0.004). ECG abnormalities 
      included shorter P-wave duration (88 +/- 12 vs. 94 +/- 15 ms, P = 0.010) and T-wave 
      peak time (Tonset - Tpeak; 104 +/- 28 vs. 115 +/- 20 ms, P = 0.015), resulting in a 
      more symmetric T wave with lower T-wave time ratio (Tonset - Tpeak)/(Tpeak - 
      Tend) (1.5 +/- 0.4 vs. 1.8 +/- 0.4, P < 0.001) compared to controls. CONCLUSION: FD 
      has a measurable myocardial phenotype pre-LVH and pre-detectable myocyte storage 
      with microvascular dysfunction, subtly impaired GLS and altered atrial 
      depolarization and ventricular repolarization intervals.
CI  - (c) The Author(s) 2020. Published by Oxford University Press on behalf of the 
      European Society of Cardiology.
FAU - Augusto, Joao B
AU  - Augusto JB
AUID- ORCID: 0000-0003-0040-5270
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Johner, Nicolas
AU  - Johner N
AUID- ORCID: 0000-0001-8236-1165
AD  - Cardiology Division, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 
      1205 Geneva, Switzerland.
FAU - Shah, Dipen
AU  - Shah D
AD  - Cardiology Division, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 
      1205 Geneva, Switzerland.
FAU - Nordin, Sabrina
AU  - Nordin S
AUID- ORCID: 0000-0003-1447-3311
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Knott, Kristopher D
AU  - Knott KD
AUID- ORCID: 0000-0003-1611-817X
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Rosmini, Stefania
AU  - Rosmini S
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Lau, Clement
AU  - Lau C
AUID- ORCID: 0000-0003-2736-0121
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
AD  - William Harvey Research Institute, NIHR Barts Biomedical Research Centre, Queen 
      Mary University of London, London, UK.
FAU - Alfarih, Mashael
AU  - Alfarih M
AUID- ORCID: 0000-0003-3883-314X
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Hughes, Rebecca
AU  - Hughes R
AUID- ORCID: 0000-0003-2110-5234
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Seraphim, Andreas
AU  - Seraphim A
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Vijapurapu, Ravi
AU  - Vijapurapu R
AUID- ORCID: 0000-0002-2472-5538
AD  - Cardiology Department, University Hospitals Birmingham, Birmingham, UK.
FAU - Bhuva, Anish
AU  - Bhuva A
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Lin, Linda
AU  - Lin L
AUID- ORCID: 0000-0001-9296-5237
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Ojrzynska, Natalia
AU  - Ojrzynska N
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
AD  - Institute of Cardiology, Warsaw, Poland.
FAU - Geberhiwot, Tarekegn
AU  - Geberhiwot T
AD  - Inherited Metabolic Disorders Unit, University Hospitals Birmingham, Birmingham, 
      UK.
FAU - Captur, Gabriella
AU  - Captur G
AUID- ORCID: 0000-0002-5662-0642
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Ramaswami, Uma
AU  - Ramaswami U
AD  - Royal Free London NHS Foundation Trust and University College London, London, UK.
FAU - Steeds, Richard P
AU  - Steeds RP
AUID- ORCID: 0000-0001-5687-2535
AD  - Cardiology Department, University Hospitals Birmingham, Birmingham, UK.
FAU - Kozor, Rebecca
AU  - Kozor R
AD  - Sydney Medical School, University of Sydney, Sydney, Australia.
FAU - Hughes, Derralynn
AU  - Hughes D
AD  - Royal Free London NHS Foundation Trust and University College London, London, UK.
FAU - Moon, James C
AU  - Moon JC
AUID- ORCID: 0000-0001-8071-1491
AD  - Institute of Cardiovascular Science, University College London, London, UK.
AD  - Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, 
      London, UK.
FAU - Namdar, Mehdi
AU  - Namdar M
AD  - Cardiology Division, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 
      1205 Geneva, Switzerland.
LA  - eng
GR  - SP/20/2/34841/BHF_/British Heart Foundation/United Kingdom
PT  - Journal Article
PL  - England
TA  - Eur Heart J Cardiovasc Imaging
JT  - European heart journal. Cardiovascular Imaging
JID - 101573788
RN  - 0 (Contrast Media)
RN  - AU0V1LM3JT (Gadolinium)
SB  - IM
MH  - Contrast Media
MH  - *Fabry Disease/diagnostic imaging
MH  - Female
MH  - Gadolinium
MH  - Humans
MH  - Hypertrophy, Left Ventricular/diagnostic imaging
MH  - Magnetic Resonance Imaging, Cine
MH  - Male
MH  - Myocardium
MH  - Phenotype
MH  - Predictive Value of Tests
MH  - Prospective Studies
MH  - Ventricular Function, Left
PMC - PMC8219366
OTO - NOTNLM
OT  - Fabry disease
OT  - cardiovascular magnetic resonance
OT  - electrocardiogram
OT  - global longitudinal strain
OT  - microvascular dysfunction
EDAT- 2020/06/10 06:00
MHDA- 2021/08/06 06:00
PMCR- 2020/06/08
CRDT- 2020/06/10 06:00
PHST- 2020/03/16 00:00 [received]
PHST- 2020/04/07 00:00 [revised]
PHST- 2020/04/15 00:00 [accepted]
PHST- 2020/06/10 06:00 [pubmed]
PHST- 2021/08/06 06:00 [medline]
PHST- 2020/06/10 06:00 [entrez]
PHST- 2020/06/08 00:00 [pmc-release]
AID - 5854845 [pii]
AID - jeaa101 [pii]
AID - 10.1093/ehjci/jeaa101 [doi]
PST - ppublish
SO  - Eur Heart J Cardiovasc Imaging. 2021 Jun 22;22(7):790-799. doi: 
      10.1093/ehjci/jeaa101.