Clinical analysis of 15 pediatric patients with tuberous sclerosis complex complicated by cardiac rhabdomyomas.
- Author:
Guo-Qiang HUANG
1
;
Qiong-Xiang ZHAI
;
Jun-Hao YU
;
Chun WANG
;
Mu-Qing ZHUO
;
Lin-Gan WANG
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; Female; Heart Neoplasms; complications; genetics; Hemodynamics; Humans; Infant; Infant, Newborn; Male; Mutation; Rhabdomyoma; complications; genetics; Tuberous Sclerosis; etiology; Tumor Suppressor Proteins; genetics
- From: Chinese Journal of Contemporary Pediatrics 2015;17(5):477-481
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).
METHODSThe clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected.
RESULTSEleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously.
CONCLUSIONSTSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.
