PMID- 29398688
OWN - NLM
STAT- MEDLINE
DCOM- 20190812
LR  - 20190812
IS  - 1347-4820 (Electronic)
IS  - 1346-9843 (Linking)
VI  - 82
IP  - 4
DP  - 2018 Mar 23
TI  - Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic 
      Cardiomyopathy on the Basis of Panel-Wide Sequencing.
PG  - 1139-1148
LID - 10.1253/circj.CJ-17-1012 [doi]
AB  - BACKGROUND: Cardiac magnetic resonance (CMR) with late gadolinium enhancement 
      (LGE) revealed a substantial variation in the extent of myocardial scarring, a 
      pathological hallmark of hypertrophic cardiomyopathy (HCM). However, few data 
      exist regarding the relationship between the presence of gene mutations and the 
      extent of LGE. Therefore, we aimed to investigate whether variations in the 
      extent of LGE in HCM patients can be explained by the presence or absence of 
      disease-causing mutations.Methods and Results:We analyzed data from 82 unrelated 
      HCM patients who underwent both LGE-CMR and next-generation sequencing. We 
      identified disease-causing sarcomere gene mutations in 44 cases (54%). The extent 
      of LGE on CMR was an independent factor for predicting mutation-positive HCM 
      (odds ratio 2.12 [95% confidence interval 1.51-3.83], P<0.01). The area under the 
      curve of %LGE was greater than that of the conventional Toronto score for 
      predicting the presence of a mutation (0.96 vs. 0.69, P<0.01). Sensitivity, 
      specificity, positive predictive value, and negative predictive value of %LGE 
      (cutoff >8.1%) were 93.2%, 89.5%, 91.1%, and 91.9%, respectively. CONCLUSIONS: 
      The results demonstrated that %LGE clearly discriminated mutation-positive from 
      mutation-negative HCM in a clinically affected HCM population. HCM with few or no 
      myocardial scars may be genetically different from HCM with a higher incidence of 
      myocardial scars.
FAU - Teramoto, Ryota
AU  - Teramoto R
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Fujino, Noboru
AU  - Fujino N
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Konno, Tetsuo
AU  - Konno T
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Nomura, Akihiro
AU  - Nomura A
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Nagata, Yoji
AU  - Nagata Y
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Tsuda, Toyonobu
AU  - Tsuda T
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Tada, Hayato
AU  - Tada H
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Sakata, Kenji
AU  - Sakata K
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Yamagishi, Masakazu
AU  - Yamagishi M
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Hayashi, Kenshi
AU  - Hayashi K
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
FAU - Kawashiri, Masa-Aki
AU  - Kawashiri MA
AD  - Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate 
      School of Medicine.
LA  - eng
PT  - Journal Article
DEP - 20180203
PL  - Japan
TA  - Circ J
JT  - Circulation journal : official journal of the Japanese Circulation Society
JID - 101137683
RN  - 0 (Contrast Media)
RN  - AU0V1LM3JT (Gadolinium)
MH  - Adult
MH  - Aged
MH  - Area Under Curve
MH  - Cardiomyopathy, Hypertrophic/*genetics
MH  - Cicatrix
MH  - Contrast Media
MH  - Female
MH  - *Gadolinium
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Magnetic Resonance Imaging, Cine/*methods
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Predictive Value of Tests
MH  - Sarcomeres/genetics/*pathology
MH  - Sensitivity and Specificity
OTO - NOTNLM
OT  - Cardiac magnetic resonance imaging
OT  - Fibrosis
OT  - Hypertrophic cardiomyopathy
EDAT- 2018/02/06 06:00
MHDA- 2019/08/14 06:00
CRDT- 2018/02/06 06:00
PHST- 2018/02/06 06:00 [pubmed]
PHST- 2019/08/14 06:00 [medline]
PHST- 2018/02/06 06:00 [entrez]
AID - 10.1253/circj.CJ-17-1012 [doi]
PST - ppublish
SO  - Circ J. 2018 Mar 23;82(4):1139-1148. doi: 10.1253/circj.CJ-17-1012. Epub 2018 Feb 
      3.