Journal of Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2433-1783 Print ISSN: 2433-2720
Japanese Society of Pediatric Cardiology and Cardiac Surgery
Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Journal of Pediatric Cardiology and Cardiac Surgery 7(1): 1-7 (2023)

Educational ReviewEducational Review

Pediatric Cardiac Rhabdomyoma

1Department of Pediatrics, Toho University Omori Medical Center ◇ Tokyo, Japan

2Department of Pediatrics, The University of Tokyo Hospital ◇ Tokyo, Japan

3Department of Data Science, Clinical Research Center, National Center for Child Health and Development ◇ Tokyo, Japan

4Department of Pediatric Cardiology, Sakakibara Heart Institute ◇ Tokyo, Japan

5Department of Cardiology, Tokyo Metropolitan Children’s Medical Center ◇ Tokyo, Japan

6Department of Pediatric Cardiology and Adult Congenital Cardiology, Tokyo Women’s Medical University ◇ Tokyo, Japan

7Department of Pediatrics, Nippon Medical School Tama Nagayama Hospital ◇ Tokyo, Japan

8Department of Pediatrics, Keio University School of Medicine ◇ Tokyo, Japan

受付日:2022年5月9日Received: May 9, 2022
受理日:2022年8月21日Accepted: August 21, 2022
発行日:2023年3月31日Published: March 31, 2023

Approximately 90% of primary cardiac tumors in children are benign, while 75% of cardiac tumors in adults are benign and 25% are malignant. More than 60% of all cardiac tumors in children is diagnosed with cardiac rhabdomyoma. Cardiac rhabdomyoma is commonly associated with tuberous sclerosis complex (TSC), which is an autosomal dominant disorder caused by mutations in either TSC1 gene or TSC2 gene. TSC is characterized by development of benign tumors in multiple organ systems, including the skin, the brain, the heart, the lungs, the kidney, and the liver. Cardiac rhabdomyomas are usually located in the ventricles, especially in the left ventricle, and show multiple lesions. In fetus, cardiac rhabdomyoma can be detected at 20 weeks of gestation. Multiple tumors in the ventricles detected by fetal ultrasound may suggest rhabdomyoma accompanied with TSC. Most children with cardiac rhabdomyomas are asymptomatic. In some occasions, murmurs, arrhythmias, or heart failure is noted. In particular, patients may present with congestive heart failure and rarely sudden cardiac death when a tumor is located at the left ventricular outflow tract. The majority of cardiac rhabdomyomas are known to regress spontaneously in utero and after birth. Because there is high probability of complete regression of the tumor during early childhood, the treatment strategy is usually conservative. In some patients, however, surgical resection is required when the tumor causes severe obstruction with hemodynamic compromise or lethal arrhythmias. Emerging recognition of mammalian target of rapamycin (mTOR) inhibitors in cardiac rhabdomyomas provides a targeted therapy. mTOR inhibitors appeared effective in treating TSC-associated tumors. Recent studies reported that systemic mTOR inhibitors would confer a clinical benefit in regression of cardiac rhabdomyomas in pediatric patients with TSC.

Key words: cardiac rhabdomyoma; tuberous sclerosis complex; mammalian targets of rapamycin inhibitors

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