Cardiac rhabdomyoma is frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report a rare case of coexistent cardiac tumor with mitral valve anomaly in a patient with tuberous sclerosis, who developed mitral regurgitation and required a surgical procedure with histological confirmation of cardiac rhabdomyoma.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1055/s-2006-924243 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex.
Pak J Med Sci
January 2025
Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
Methods: This study including a Han-Chinese pedigree recruited from the Third Xiangya Hospital, Central South University, Changsha, Hunan, China was conducted between February, 2019 and January, 2023. Detailed clinical examinations were performed on the proband and other family members of a Han-Chinese family with TSC.
Pifithrin-μ sensitizes mTOR-activated liver cancer to sorafenib treatment.
Cell Death Dis
January 2025
Department of Organ Transplantation and Hepatobiliary Surgery, Key Laboratory of Organ Transplantation of Liaoning Province, The First Hospital of China Medical University, Shenyang, China.
TSC2, a suppressor of mTOR, is inactivated in up to 20% of HBV-associated liver cancer. This subtype of liver cancer is associated with aggressive behavior and early recurrence after hepatectomy. Being the first targeted regimen for advanced liver cancer, sorafenib has limited efficacy in HBV-positive patients.
View Article and Find Full Text PDFSynergistic effects of mTOR inhibitors with VEGFR3 inhibitors on the interaction between TSC2-mutated cells and lymphatic endothelial cells.
Sci China Life Sci
January 2025
Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.
Lymphangioleiomyomatosis (LAM) is a rare neoplastic disease affecting the lung, kidney, and lymphatic system with a molecular mechanism of tuberous sclerosis complex 2 (TSC2) mutations. Vascular endothelial growth factor D (VEGF-D), a ligand for vascular endothelial growth factor receptor 3 (VEGFR3), is a diagnostic biomarker of LAM and is associated with lymphatic circulation abnormalities. This study explored the interaction between LAM cells and lymphatic endothelial cells (LECs) and the effects of rapamycin on this interaction, which may help to identify new targets for LAM treatment.
View Article and Find Full Text PDFSomatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.
Int J Mol Sci
January 2025
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Berlin, and Berlin Institute of Health, 13353 Berlin, Germany.
Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one-third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms.
View Article and Find Full Text PDFPrenatally Diagnosed Cardiac Tumors and Tuberous Sclerosis Complex: A Single-Center Experience.
Children (Basel)
January 2025
Department of Pediatrics, Division of Neonatology and Neonatal Intensive Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.
Background/objectives: Cardiac rhabdomyoma (CR), the most frequently occurring fetal cardiac tumor, is often an early marker of tuberous sclerosis complex (TSC). This study evaluates outcomes of fetuses with prenatally diagnosed cardiac tumors managed at a single tertiary center.
Methods: Medical records of fetuses diagnosed with cardiac tumors between 2009 and 2024 were retrospectively reviewed.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!