Prognosis and diagnosis of fetal cardiac rhabdomyomas

Abstract

Objective To improve the awareness of fetal cardiac rhabdomyomas (CRs) and investigate a better model for prenatal diagnosis and treatment through analyzing imaging findings and prognosis. Methods A retrospective study was conducted on 23 cases of CRs which were diagnosed by ultrasound in Obstetrics and Gynecology Hospital of Fudan University from January 2008 to November 2015. General conditions, imaging features, prognosis and follow-up data of the 23 cases were described. Results The average gestational age of the 23 fetuses at diagnosis was (29.8±4.1) (22.4-35.7) weeks. Seventeen out of the 23 gravidas received prenatal multidisciplinary consultation. Among all 23 gravidas, three (13%) were lost to follow-up, 12 (52%) decided to terminate the pregnancy, and the other eight (35%) continued to term pregnancy and their babies were followed up for three years. Of these eight cases, two cases received prenatal brain MRI and no tuberous sclerosis complex (TSC) was detected, no CRs was identified during the follow-up, and their physical and mental developments were both normal. One case was diagnosed with suspected subependymal nodules by prenatal brain MRI in our hospital, but the MRI images was normal when scanned in the other hospital, and follow-up data revealed neither CRs nor abnormal physical and mental developments. Four cases did not received prenatal brain MRI, but the MRI images of neonatal brains indicated TSC, besides, follow-up data showed that seizures were observed, physical developments were all normal, but three of the four cases had mental retardation; CRs disappeared in only two of the four cases. One case had neither prenatal nor neonatal MRI, but follow-up data showed that CRs had disappeared and physical and mental developments were both normal. Conclusions Prenatal diagnosis of fetal tuberous sclerosis is crucial to the prognosis of CRs. Prenatal ultrasonography in combination with cranial MRI improves the accuracy of prenatal diagnosis of CRs complicated with TSC and assists in clinical decision-making and prognosis analysis. Key words: Heart neoplasms; Rhabdomyoma; Tuberous sclerosis; Ultrasonography, prenatal; Physician's practice patterns; Prognosis