Genetic analysis of three fetusesaffected with cardiac rhabdomyomas.
10.3760/cma.j.issn.1003-9406.2020.06.008
- VernacularTitle:三例心脏横纹肌瘤胎儿的基因诊断
- Author:
Rui HOU
1
;
Yuan LYU
;
Chuang LI
;
Shanshan LIAO
;
Yan ZHANG
;
Jesse LI-LING
;
Caixia LIU
Author Information
1. Department of Gynecology & Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China. liucx@sj-hospital.org.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(6):629-632
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on echocardiographic finding and genetic testing of three fetuses with cardiac rhabdomyoma.
METHODS:Clinical data of the three fetuses was collected. High-throughput sequencing was carried out to analyze the whole exomes of the three fetuses. Suspected variants were confirmed by Sanger sequencing.
RESULTS:Multiple hyperechoic masses were found in both ventricles of the three fetuses, suggesting the presence of fetal cardiac rhabdomyoma. Genetic testing revealed that fetus 1 carried a heterozygous c.740G>A (p.W247*) variant of the TSC1 gene, fetus 2 carried a previously known heterozygous c.3352C>T (p.Q1118*) variant of the TSC2 gene. Fetus 3 carried a previously known heterozygous c.1579C>T (p.Q527*) variant of the TSC1 gene. None of their parents carried the same variant. Literature review has identified 109 fetuses with relatively complete data. Cardiac rhabdomyomas in ventricles and ventricular septum was reported in 89, and multiple cardiac rhabdomyoma was reported in 79. Out of the 94 cases who underwent genetic testing, 74 have carried variants of the TSC1 or TSC2 genes.
CONCLUSION:Fetal cardiac rhabdomyoma may present as multiple hyperechoic intraventricular masses. Most of them are associated with other manifestation of tuberous sclerosis. Such cases may warrant prenatal genetic testing.
