PMID- 24819852
OWN - NLM
STAT- MEDLINE
DCOM- 20150604
LR  - 20160511
IS  - 2047-2412 (Electronic)
IS  - 2047-2404 (Linking)
VI  - 15
IP  - 10
DP  - 2014 Oct
TI  - A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy 
      with cardiac magnetic resonance imaging: linking genotype with fibrotic 
      phenotype.
PG  - 1108-16
LID - 10.1093/ehjci/jeu077 [doi]
AB  - AIMS: In hypertrophic cardiomyopathy (HCM), attempts to associate genotype with 
      phenotype have largely been unsuccessful. More recently, cardiac magnetic 
      resonance (CMR) imaging has enhanced myocardial fibrosis characterization, while 
      next-generation sequencing (NGS) can identify pathogenic HCM mutations. We used 
      CMR and NGS to explore the link between genotype and fibrotic phenotype in HCM. 
      METHODS AND RESULTS: One hundred and thirty-nine patients with HCM and 25 healthy 
      controls underwent CMR to quantify regional myocardial fibrosis with late 
      gadolinium enhancement (LGE) and diffuse myocardial fibrosis with post-contrast 
      T1 mapping. Collagen content of myectomy specimens from nine HCM patients was 
      determined. Fifty-six HCM patients underwent NGS for 65 cardiomyopathy genes, 
      including 36 HCM-associated genes. Post-contrast myocardial T1 time correlated 
      histologically with myocardial collagen content (r = -0.70, P = 0.03). Compared 
      with controls, HCM patients had more LGE (4.6 +/- 6.1 vs. 0%, P < 0.001) and lower 
      post-contrast T1 time (483 +/- 83 vs. 545 +/- 49 ms, P < 0.001). LGE negatively 
      correlated with left-ventricular (LV) ejection fraction and outflow tract 
      obstruction, whereas lower post-contrast T1 time, suggestive of more diffuse 
      myocardial fibrosis, was associated with LV diastolic impairment and dyspnoea. 
      Patients with identifiable HCM mutations had more LGE (7.9 +/- 8.6 vs. 3.1 +/- 4.3%, 
      P = 0.03), but higher post-contrast T1 time (498 +/- 81 vs. 451 +/- 70 ms, P = 0.03) 
      than patients without. CONCLUSION: In HCM, contrast-enhanced CMR with T1 mapping 
      can non-invasively evaluate regional and diffuse patterns of myocardial fibrosis. 
      These patterns of fibrosis occur independently of each other and exhibit distinct 
      clinical associations. HCM patients with recognized genetic mutations have 
      significantly more regional, but less diffuse myocardial fibrosis than those 
      without.
CI  - Published on behalf of the European Society of Cardiology. All rights reserved. (c) 
      The Author 2014. For permissions please email: journals.permissions@oup.com.
FAU - Ellims, Andris H
AU  - Ellims AH
AD  - Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes 
      Institute, Melbourne, Australia.
FAU - Iles, Leah M
AU  - Iles LM
AD  - Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes 
      Institute, Melbourne, Australia.
FAU - Ling, Liang-han
AU  - Ling LH
AD  - Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes 
      Institute, Melbourne, Australia.
FAU - Chong, Belinda
AU  - Chong B
AD  - Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, 
      Melbourne, Australia.
FAU - Macciocca, Ivan
AU  - Macciocca I
AD  - Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, 
      Melbourne, Australia.
FAU - Slavin, Glenn S
AU  - Slavin GS
AD  - GE Healthcare, Bethesda, USA.
FAU - Hare, James L
AU  - Hare JL
AD  - Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes 
      Institute, Melbourne, Australia.
FAU - Kaye, David M
AU  - Kaye DM
AD  - Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes 
      Institute, Melbourne, Australia.
FAU - Marasco, Silvana F
AU  - Marasco SF
AD  - Cardiothoracic Surgery Unit, Alfred Hospital, Melbourne, Australia.
FAU - McLean, Catriona A
AU  - McLean CA
AD  - Department of Anatomical Pathology, Alfred Hospital, Melbourne, Australia.
FAU - James, Paul A
AU  - James PA
AD  - Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, 
      Melbourne, Australia.
FAU - du Sart, Desiree
AU  - du Sart D
AD  - Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, 
      Melbourne, Australia.
FAU - Taylor, Andrew J
AU  - Taylor AJ
AD  - Heart Centre, Alfred Hospital, Melbourne, Australia Baker IDI Heart and Diabetes 
      Institute, Melbourne, Australia andrew.taylor@bakeridi.edu.au.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140512
PL  - England
TA  - Eur Heart J Cardiovasc Imaging
JT  - European heart journal. Cardiovascular Imaging
JID - 101573788
RN  - 0 (Contrast Media)
RN  - K2I13DR72L (Gadolinium DTPA)
SB  - IM
MH  - Cardiomyopathy, Hypertrophic/*genetics/*pathology
MH  - Case-Control Studies
MH  - Contrast Media
MH  - Echocardiography
MH  - Female
MH  - Fibrosis
MH  - Gadolinium DTPA
MH  - Genotype
MH  - Humans
MH  - Magnetic Resonance Imaging/*methods
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Phenotype
OTO - NOTNLM
OT  - Genotyping
OT  - Hypertrophic cardiomyopathy
OT  - Magnetic resonance imaging
OT  - Myocardial fibrosis
OT  - T1 mapping
EDAT- 2014/05/14 06:00
MHDA- 2015/06/05 06:00
CRDT- 2014/05/14 06:00
PHST- 2014/05/14 06:00 [entrez]
PHST- 2014/05/14 06:00 [pubmed]
PHST- 2015/06/05 06:00 [medline]
AID - jeu077 [pii]
AID - 10.1093/ehjci/jeu077 [doi]
PST - ppublish
SO  - Eur Heart J Cardiovasc Imaging. 2014 Oct;15(10):1108-16. doi: 
      10.1093/ehjci/jeu077. Epub 2014 May 12.