Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10376610" target="_blank" >RIV/00216208:11110/18:10376610 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/18:10376610
Result on the web
<a href="https://doi.org/10.1016/j.ijcard.2018.01.006" target="_blank" >https://doi.org/10.1016/j.ijcard.2018.01.006</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ijcard.2018.01.006" target="_blank" >10.1016/j.ijcard.2018.01.006</a>
Alternative languages
Result language
angličtina
Original language name
Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction
Original language description
Left ventricular hypertrophy may be a consequence of a hemodynamic overload or a manifestation of several diseases affecting different structural and functional proteins of cardiomyocytes. Among these, sarcomeric hypertrophic cardiomyopathy (HCM) represents the most frequent cause. In addition, several metabolic diseases lead to myocardial thickening, either due to intracellular storage (glycogen storage and lysosomal diseases), extracellular deposition (TTR and AL amyloidosis) or due to abnormal energy metabolism (mitochondrial diseases). The recognition of these rare causes of myocardial hypertrophy is important for family screening strategies, risk assessment, and treatment. Moreover, as there are specific therapies for some forms of HCM including enzyme substitution and chaperone therapies and specific treatments for TTR amyloidosis, a differential diagnosis should be sought in all patients with unexplained left ventricular hypertrophy. Diastolic dysfunction is a key feature of HCM and its phenocopies. Its assessment is complex and requires evaluation of several functional parameters and structural changes. Severe diastolic dysfunction carries a negative prognostic implication and its value in differential diagnosis is limited.
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
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Cardiology
ISSN
0167-5273
e-ISSN
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Volume of the periodical
257
Issue of the periodical within the volume
April
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
7
Pages from-to
344-350
UT code for WoS article
000427530200088
EID of the result in the Scopus database
2-s2.0-85042657256