Clinical Presentation & Protocol
Patient Usually Complains Of
Patient presents for evaluation of suspected cardiac rhabdomyoma, often incidentally detected on fetal echocardiography or during workup for Tuberous Sclerosis Complex (TSC). Clinical history focuses on presence of arrhythmias (tachycardia/bradycardia), signs of congestive heart failure (poor feeding, diaphoresis, tachypnea), or family history of TSC.
Clinical Examination Findings
Cardiovascular examination reveals regular or irregular rhythm, potential systolic murmurs if outflow tract obstruction is present. Assessment for extracardiac manifestations of TSC, including dermatological findings (hypomelanotic macules/ash-leaf spots, facial angiofibromas) and neurological status. Vital signs monitored for hemodynamic stability.
Treatment Protocol
Management is primarily conservative as most rhabdomyomas regress spontaneously. Indications for intervention include symptomatic outflow tract obstruction, refractory arrhythmias, or severe heart failure. Therapeutic options include mTOR inhibitors (e.g., sirolimus/everolimus) to reduce tumor size or surgical resection in hemodynamically unstable cases.