The infant was discharged without evidence of cardiac decompensation. However, the infant died suddenly at the age of 2 months, presumably from the onset of an arrhythmia. Crawford et al 21 were the first to suggest that rhabdomyomas can identify tuberous sclerosis on an antenatal basis. Subsequently, other investigators have confirmed that the prenatal diagnosis of a rhabdomyoma is preliminary evidence that the fetus will have other postnatal manifestations of tuberous sclerosis. Unfortunately, many cases of tuberous sclerosis are new mutations, and a familial history of the disease is often negative.
Additional loci are possible and are being actively investigated.
The specific gene deficit itself is unknown, as is the underlying process by which the tumor is produced. Review of prenatal diagnosis of rhabdomyoma with tuberous sclerosis. A cardiac rhabdomyoma associated with tuberous sclerosis is considered a benign hamartoma of muscle cells. Prenatal diagnosis Table 1 reviews those case reports which have detected cardiac rhabdomyomas in the prenatal period, in association with tuberous sclerosis. Only reports of such tumors in association with tuberous sclerosis have been included.