Fetal cardiac rhabdomyoma is diagnosed in the second trimester: a case report

Rhabdomyoma, the most common primary fetal cardiac tumor (60-86%) is often associated with tuberous sclerosis (TS).The prevelance of TS associated with fetal cardiac rhabdomyoma is 50-80%, resulting in a perinatal mortality rate of 0-100%.
Other cardiac tumors include fibroma, myxoma, teratoma, and hemangioma.Rhabdomyomas appear on ultrasound as round, homogenous, hyperechogenic masses in the ventricles, and they sometimes appear as a multiple foci in the ventricles and septal wall.When the tumor was larger than 20 mm fetuses has a higher risk of perinatal death.A few cases with extracardiac anomalies such as cleft palate, polycystic kidney and clubfoot.Fetal MRI provides and additional imaging modality for the detection of TS.TS may be caused by the mutation of the tumor suppressor genes TSC1 and TSC2.TS follows an autosomal dominant hereditary pattern with variable expression, and 50-80% of childhood cases are considered to result from spontaneous mutation.
We aimed to show in our case which fetal cardiac rhabdomyoma was diagnosed in the second trimester (28th weeks) by fetal echocardiography.The mother was referred to our clinic for fetal cardiac hyperechogenic mass.A round, hyperechogenis mass (32x20mm) was seen in the left vetricule.Aorta and pulmonary artery outflow were seen for excluding the great artery transposition.There was no sign for outflow obstruction of the aorta.Fetal heart rate was 136 beat/min.There was no sign for hydrops.We screened the patient for renal hamartoma, cleft palate and club foot by ultrasonography.Cranial MRI was performed for brain lesion of TS.Cleft palate or lip were not seen.There was no family history for TS.We planned to check TSC1 and TSC2 tumor supressor gene mutation after delivery.We planned to delivery patient in our clinic at 37th weeks.The baby is going to follow up for great atreies outflow tract obstruction.

Keywords

Fetal cardiac rhabdomyoma, fetal echocardiography

	File/Dsecription
	Figure 1 A round hyperechogenic mass
	Figure 2 The great arteries
	Resim 3 Hyperechogenic mass in the left ventricle