Regression of Symptomatic Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex in a Newborn Receiving Everolimus

Abstract

As we observed in our patient, in cases with inoperable symptomatic rhabdomyomas associated with TSC, everolimus, an mTOR inhibitor, may be the treatment of choice, which should be confirmed with additional studies.

Oral Everolimus for Treatment of a Giant Left Ventricular Rhabdomyoma in a Neonate—Rapid Tumor Regression Documented by Real Time 3D Echocardiography

“…These authors reported on a case of a 7‐year‐old patient with TSC who had everolimus for treatment of SEGAs and experienced unexpectedly regression of a large left ventricular cardiac rhabdomyoma. This finding has been successfully reproduced in several case reports of RHMs …”

“…Although cardiac RHMs are known as the most common primary cardiac tumors that are histologically benign, their behavior may be relevant to cardiac function due to their size or location. In up to 86% RHMs are associated with TSC . Mammalian target of rapamycin (mTOR) inhibitors that downregulate the overactive mTOR pathway in TSC have been shown to be a specific treatment option in TSC‐related manifestations as SEGA or AML.…”

“…Within the last years, mTOR (mammalian target of rapamycin) inhibitors such as sirolimus and everolimus have been introduced into the pharmacotherapy of TSC‐related CNS (subependymal giant cell astrocytoma, SEGA) and renal tumors (angiomyolipoma, AML) . Very recently, regressive effects of mTOR inhibitors on TSC‐associated intracardiac tumors have been reported . The presented case of a neonate with duct‐dependent circulation from a giant rhabdomyoma illustrates successful medical treatment with everolimus.…”

Unexpected enlargement of cardiac rhabdomyoma after spontaneous regression has begun in a newborn: A case report

“…Although they are not approved by Food and Drug Administration, mammalian target of rapamycin (mTOR) inhibitors are currently under investigation as a treatment option for CRHMs especially for those with technical difficulties for surgery (11). Everolimus appears to be a reasonable therapeutic alternative to surgery in symptomatic infants in whom spontaneous regression cannot be awaited (5) and succesful results are reported with everolimus (3,5,11,12).…”

“…Everolimus appears to be a reasonable therapeutic alternative to surgery in symptomatic infants in whom spontaneous regression cannot be awaited (5) and succesful results are reported with everolimus (3,5,11,12). Adverse effects of everolimus include myelosuppression, peripheral edema, increased creatinine level, diarrhea, nausea, urinary tract infections, hyperlipidemia, hypertriglyceridemia, mouth ulcers, hepatotoxicity, proteinuria, and impaired wound healing (13).…”