PMID- 32499120
OWN - NLM
STAT- MEDLINE
DCOM- 20210330
LR  - 20210330
IS  - 1365-229X (Electronic)
IS  - 0009-9260 (Linking)
VI  - 75
IP  - 9
DP  - 2020 Sep
TI  - Clinical features and cardiovascular magnetic resonance characteristics in Danon 
      disease.
PG  - 712.e1-712.e11
LID - S0009-9260(20)30168-9 [pii]
LID - 10.1016/j.crad.2020.04.012 [doi]
AB  - AIMS: To investigate the clinical spectrum, cardiovascular magnetic resonance 
      imaging (cMRI) characteristics, including T1 and extracellular volume fraction, 
      and outcomes of Danon disease to facilitate further understanding of the 
      phenotype of patients with Danon disease. MATERIALS AND METHODS: The study 
      comprised six male patients 8-23 years old recruited to the study between 
      2014-2019. The clinical presentation, laboratory examinations, pathology/genetic 
      analysis, electrocardiography (ECG), echocardiography, and cCMRI characteristics 
      were summarised. RESULTS: Five out of six patients suffered from hypertrophic 
      cardiomyopathy (HCM) phenotype of Danon disease, while one patient had dilated 
      cardiomyopathy (DCM) phenotype. Left ventricular (LV) and left atrial (LA) 
      function were impaired at strain measurement. Diffuse and focal late gadolinium 
      enhancement (LGE) were observed separately in the LV walls of three patients and 
      right ventricular (RV) insertion points of the remaining three patients. 
      Furthermore, values for the native T1 (mean 1313.3 ms) and extracellular volume 
      fraction (ECV; mean 39.17%) of three patients were increased. CONCLUSIONS: Both 
      dilated and hypertrophic cardiomyopathy may be the phenotypes of Danon disease. 
      Comprehensive cCMRI played a unique role in the diagnosis and grading severity 
      and risk factors of Danon disease in vivo, especially by using robust 
      quantitative strain analysis, T1 mapping, and further ECV calculation.
CI  - Copyright (c) 2020 The Royal College of Radiologists. Published by Elsevier Ltd. 
      All rights reserved.
FAU - He, J
AU  - He J
AD  - Department of Magnetic Resonance Imaging, Fuwai Hospital, National Center for 
      Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
FAU - Xu, J
AU  - Xu J
AD  - Department of Magnetic Resonance Imaging, Fuwai Hospital, National Center for 
      Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
FAU - Chen, L
AU  - Chen L
AD  - Department of Magnetic Resonance Imaging, Fuwai Hospital, National Center for 
      Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
FAU - Ji, K
AU  - Ji K
AD  - Department of Magnetic Resonance Imaging, Fuwai Hospital, National Center for 
      Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
FAU - Fan, X
AU  - Fan X
AD  - Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular 
      Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, 
      Beijing, China.
FAU - Zhao, S
AU  - Zhao S
AD  - Department of Magnetic Resonance Imaging, Fuwai Hospital, National Center for 
      Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China. Electronic address: cjr_zhaoshihua@163.com.
FAU - Lu, M
AU  - Lu M
AD  - Department of Magnetic Resonance Imaging, Fuwai Hospital, National Center for 
      Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China; Key Laboratory of Cardiovascular Imaging 
      (Cultivation), Chinese Academy of Medical Sciences, Beijing 100037, China. 
      Electronic address: coolkan@163.com.
LA  - eng
PT  - Journal Article
DEP - 20200601
PL  - England
TA  - Clin Radiol
JT  - Clinical radiology
JID - 1306016
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Glycogen Storage Disease Type IIb/*diagnosis/physiopathology
MH  - Heart Ventricles/*diagnostic imaging/physiopathology
MH  - Humans
MH  - Magnetic Resonance Imaging, Cine/*methods
MH  - Male
MH  - Reproducibility of Results
MH  - Retrospective Studies
MH  - Ventricular Function, Left/*physiology
MH  - Young Adult
EDAT- 2020/06/06 06:00
MHDA- 2021/03/31 06:00
CRDT- 2020/06/06 06:00
PHST- 2019/07/12 00:00 [received]
PHST- 2020/04/23 00:00 [accepted]
PHST- 2020/06/06 06:00 [pubmed]
PHST- 2021/03/31 06:00 [medline]
PHST- 2020/06/06 06:00 [entrez]
AID - S0009-9260(20)30168-9 [pii]
AID - 10.1016/j.crad.2020.04.012 [doi]
PST - ppublish
SO  - Clin Radiol. 2020 Sep;75(9):712.e1-712.e11. doi: 10.1016/j.crad.2020.04.012. Epub 
      2020 Jun 1.