Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/00064165:_____/18:10376610
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction
Popis výsledku v původním jazyce
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.
Název v anglickém jazyce
Common presentation of rare diseases: Left ventricular hypertrophy and diastolic dysfunction
Popis výsledku anglicky
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.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30201 - Cardiac and Cardiovascular systems
Návaznosti výsledku
Projekt
—
Návaznosti
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Ostatní
Rok uplatnění
2018
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
International Journal of Cardiology
ISSN
0167-5273
e-ISSN
—
Svazek periodika
257
Číslo periodika v rámci svazku
April
Stát vydavatele periodika
NL - Nizozemsko
Počet stran výsledku
7
Strana od-do
344-350
Kód UT WoS článku
000427530200088
EID výsledku v databázi Scopus
2-s2.0-85042657256