Clinical analysis of 15 pediatric patients with tuberous sclerosis complex complicated by cardiac rhabdomyomas / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 477-481, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-346123
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).</p><p><b>METHODS</b>The 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.</p><p><b>RESULTS</b>Eleven 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.</p><p><b>CONCLUSIONS</b>TSC-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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Rhabdomyoma
/
Tuberous Sclerosis
/
Tumor Suppressor Proteins
/
Genetics
/
Heart Neoplasms
/
Hemodynamics
/
Mutation
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2015
Type:
Article
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