Cardiac Rhabdomyomas as Biomarkers of TSC Disease Severity
Abstract
Tuberous sclerosis complex (TSC) is a genetic disorder that leads to tumors throughout the body, seizures, autism, and intellectual disability, among other things. The combination of tumors and other findings are present in a patient is not able to be predicted with current knowledge. Currently, the first detectable tumor is a cardiac rhabdomyoma that can be seen on prenatal ultrasounds. Rarely these tumors can threaten the life of the fetus or newborn by causing heart failure or fatal arrhythmias. Few studies have tried to study rhabdomyomas in a way that determines the best imaging protocols for identifying and monitoring rhabdomyomas so that we know which babies need treatment and when to begin treatment before the baby is ultimately in trouble. Our prospective, patient-centered study addresses this critical gap in knowledge so that we might be able to use detection and characterization of cardiac rhabdomyomas, especially during the prenatal period before the baby is born, to identity who is at risk of cardiac complications or at risk for developing other major manifestations of TSC. Only then will we be positioned to use rhabdomyomas as an identifying feature for determining who might benefit from pre-emptive, protective treatments early in life, even prenatally.
Document Details
- Document Type
- DoD Grant Award
- Publication Date
- Jan 04, 2024
- Source ID
- HT94252310212
Entities
People
- David Ritter
Organizations
- United States Army