Fetal heart rhabdomyomatosis: a single-center experience
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00843989%3A_____%2F21%3AE0108822" target="_blank" >RIV/00843989:_____/21:E0108822 - isvavai.cz</a>
Alternative codes found
RIV/00179906:_____/21:10421372 RIV/00098892:_____/21:N0000101 RIV/61989592:15110/21:73596232
Result on the web
<a href="https://www.tandfonline.com/doi/abs/10.1080/14767058.2019.1613365?journalCode=ijmf20" target="_blank" >https://www.tandfonline.com/doi/abs/10.1080/14767058.2019.1613365?journalCode=ijmf20</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/14767058.2019.1613365" target="_blank" >10.1080/14767058.2019.1613365</a>
Alternative languages
Result language
angličtina
Original language name
Fetal heart rhabdomyomatosis: a single-center experience
Original language description
Objectives: The primary aim of the study was to evaluate the prevalence of fetal heart tumors in a single tertiary referral center over a period of 15 years. The secondary aim was to confirm the presence of tuberous sclerosis complex (TSC) through the evaluation of germline mutation in TSC1/TSC2 and assess the outcomes in affected fetuses and newborns.Methods: A retrospective study was conducted between 2003 and 2017. Fetal echocardiography was performed in the second trimester of pregnancy in the study population. The identification of heart tumors and further follow-up were performed by a pediatric cardiologist. Molecular genetic analysis was conducted on fetuses and children in cases where TSC was suspected.Results: In total, 39,018 fetuses were examined between 2003 and 2017. Heart tumors were detected in nine fetuses and were diagnosed as rhabdomyoma in all cases. We identified mutations in one of the TSC1 or TSC2 genes in all cases with multiple rhabdomyomas (8/9). In all born children (5/9), the genetically confirmed diagnosis of TSC was established, and clinically pathological deposits in the brain were found.Conclusion: Fetal heart tumors are usually represented by rhabdomyomas having a good cardiac prognosis. However, rhabdomyoma is usually the first symptom of TSC with a subsequent brain disorder and impaired neurological development.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30214 - Obstetrics and gynaecology
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2021
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 maternal-fetal & neonatal medicine
ISSN
1476-7058
e-ISSN
1476-4954
Volume of the periodical
34
Issue of the periodical within the volume
5
Country of publishing house
GB - UNITED KINGDOM
Number of pages
7
Pages from-to
701-707
UT code for WoS article
000469664000001
EID of the result in the Scopus database
2-s2.0-85065982908