Natural history of MYH7-related dilated cardiomyopathy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023001%3A_____%2F22%3A00083493" target="_blank" >RIV/00023001:_____/22:00083493 - isvavai.cz</a>
Result on the web
<a href="https://reader.elsevier.com/reader/sd/pii/S0735109722057138?token=E69651F87F9301A2B0FC14787C8D7637F6ED745CD8197A83568F6124C85B199E271579C2731E5CE84358B84204959351&originRegion=eu-west-1&originCreation=20230110134208" target="_blank" >https://reader.elsevier.com/reader/sd/pii/S0735109722057138?token=E69651F87F9301A2B0FC14787C8D7637F6ED745CD8197A83568F6124C85B199E271579C2731E5CE84358B84204959351&originRegion=eu-west-1&originCreation=20230110134208</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jacc.2022.07.023" target="_blank" >10.1016/j.jacc.2022.07.023</a>
Alternative languages
Result language
angličtina
Original language name
Natural history of MYH7-related dilated cardiomyopathy
Original language description
BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
Project
<a href="/en/project/NV19-08-00122" target="_blank" >NV19-08-00122: Improved Interpretation of Next Generation Sequencing Datasets in Patients with Inherited Cardiomyopathy Using Functional Models Based on Induced Pluripotent Stem Cells and Advanced Cardiac Imaging in Families</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of the American College of Cardiology
ISSN
0735-1097
e-ISSN
1558-3597
Volume of the periodical
80
Issue of the periodical within the volume
15
Country of publishing house
US - UNITED STATES
Number of pages
15
Pages from-to
1447-1461
UT code for WoS article
000882303300004
EID of the result in the Scopus database
2-s2.0-85138767926