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[Cardiac rhabdomyoma in familial tuberous sclerosis]
Insights
Tuberous sclerosis, a genetic disorder, can manifest with cardiac rhabdomyomas in infants, leading to serious complications. Early diagnosis through imaging is crucial for timely intervention and genetic counseling.
Area of Science:
- Pediatric Cardiology
- Neurology
- Medical Genetics
Background:
- Tuberous sclerosis is a genetic disorder causing tumors in various organs.
- Cardiac rhabdomyomas are common in infants with tuberous sclerosis.
- Early detection is vital for managing complications.
Abstract:
Case report of a previously healthy girl who presented at the age of 9 months a paroxysmal supraventricular tachycardia. Echocardiography revealed multiple cardiac tumors. The detection of a few hardly visible unpigmented patches of skin allowed the diagnosis of tuberous sclerosis with cardiac rhabdomyomas. Computerised tomography of the brain showed typical calcifications and multiple hypodense parenchymal lesions. In the further course of the disease, progressive multifocal epilepsy and severe retardation of psychomotor development occurred, angiofibromas appeared on the face, and a suspected angiomyolipoma on renal sonography. A very mild form of this autosomal dominant phacomatosis could be detected in the patient's mother. As cardiac rhabdomyomas and tuberous sclerosis are frequently associated, investigations for both these findings with modern methods of body imaging are recommended in order to allow early diagnosis and genetic counselling.