PMID- 27333905
OWN - NLM
STAT- MEDLINE
DCOM- 20170717
LR  - 20210402
IS  - 1468-201X (Electronic)
IS  - 1355-6037 (Linking)
VI  - 102
IP  - 20
DP  - 2016 Oct 15
TI  - 59-year-old female with breathlessness.
PG  - 1654
LID - 10.1136/heartjnl-2016-309836 [doi]
AB  - CLINICAL INTRODUCTION: A 59-year-old female underwent an electrocardiogram (ECG) 
      and echocardiographic screening. Her brother died at quite a young age of kidney 
      failure. Resting ECG showed borderline voltage criteria for left ventricular 
      hypertrophy (LVH), with marked widespread T-wave inversion. Echocardiogram was 
      normal, but in consideration of exertional breathlessness and abnormal baseline 
      ECG, she underwent a coronary angiogram, which showed unobstructed coronaries. 
      She was then referred to have a cardiac MR (CMR) for further characterisation. 
      CMR images were acquired with a 1.5 T scanner and the imaging protocol included 
      Steady-State Free Precession (SSFP) cine images (Figure 1A) as well as late 
      gadolinium enhancement (LGE) images in the long-axis and short-axis planes 
      covering the whole left ventricle (Figure 1B). In addition, native and 
      postcontrast T1 mapping (Modified Look-Locker (MOLLI)) images were acquired for 
      further tissue characterisation (Figure 1C and D, respectively). QUESTION: What 
      is the most likely diagnosis based on CMR findings? Anderson-Fabry's disease 
      (AFD)Cardiac amyloidosisGenotype (+), phenotype (-) hypertrophic cardiomyopathy 
      (HCM)Myocardial iron overloadNormal heart.
CI  - Published by the BMJ Publishing Group Limited. For permission to use (where not 
      already granted under a licence) please go to 
      http://www.bmj.com/company/products-services/rights-and-licensing/
FAU - Scatteia, Alessandra
AU  - Scatteia A
AD  - CMR-unit Bristol Heart Institute, Bristol Heart Institute, University Hospitals 
      Bristol NHS Foundation Trust, Bristol, UK Department of Biomedical science, 
      Federico II, University of Naples, Naples, Italy.
FAU - De Garate, Estefania
AU  - De Garate E
AD  - CMR-unit Bristol Heart Institute, Bristol Heart Institute, University Hospitals 
      Bristol NHS Foundation Trust, Bristol, UK.
FAU - Bucciarelli-Ducci, Chiara
AU  - Bucciarelli-Ducci C
AD  - CMR-unit Bristol Heart Institute, Bristol Heart Institute, University Hospitals 
      Bristol NHS Foundation Trust, Bristol, UK.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160622
PL  - England
TA  - Heart
JT  - Heart (British Cardiac Society)
JID - 9602087
RN  - 0 (Biomarkers)
RN  - EC 3.2.1.22 (GLA protein, human)
RN  - EC 3.2.1.22 (alpha-Galactosidase)
RN  - Fabry Disease, Cardiac Variant
SB  - IM
MH  - Biomarkers/analysis
MH  - Dyspnea/diagnosis
MH  - Fabry Disease/*complications/diagnostic imaging/enzymology
MH  - Female
MH  - Humans
MH  - Magnetic Resonance Imaging, Cine
MH  - Middle Aged
MH  - alpha-Galactosidase/analysis
EDAT- 2016/06/24 06:00
MHDA- 2017/07/18 06:00
CRDT- 2016/06/24 06:00
PHST- 2016/04/18 00:00 [received]
PHST- 2016/05/30 00:00 [accepted]
PHST- 2016/06/24 06:00 [entrez]
PHST- 2016/06/24 06:00 [pubmed]
PHST- 2017/07/18 06:00 [medline]
AID - heartjnl-2016-309836 [pii]
AID - 10.1136/heartjnl-2016-309836 [doi]
PST - ppublish
SO  - Heart. 2016 Oct 15;102(20):1654. doi: 10.1136/heartjnl-2016-309836. Epub 2016 Jun 
      22.