Biomaterial Database

[Cardiac rhabdomyoma in familial tuberous sclerosis]. 1986

A Schneider, and B Tschirky, and U Arbenz, and A Fanconi

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.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D004452	Echocardiography	Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.	Echocardiography, Contrast,Echocardiography, Cross-Sectional,Echocardiography, M-Mode,Echocardiography, Transthoracic,Echocardiography, Two-Dimensional,Transthoracic Echocardiography,2-D Echocardiography,2D Echocardiography,Contrast Echocardiography,Cross-Sectional Echocardiography,Echocardiography, 2-D,Echocardiography, 2D,M-Mode Echocardiography,Two-Dimensional Echocardiography,2 D Echocardiography,Cross Sectional Echocardiography,Echocardiography, 2 D,Echocardiography, Cross Sectional,Echocardiography, M Mode,Echocardiography, Two Dimensional,M Mode Echocardiography,Two Dimensional Echocardiography
D005260	Female		Females
D006338	Heart Neoplasms	Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM.	Cardiac Cancer,Cardiac Carcinoma,Cardiac Neoplasms,Cardiac Tumor,Cardiac Tumors,Heart Cancer,Heart Tumor,Intracavitary Tumors of the Heart,Myocardial Tumors (Rhabdomyomas and Fibromas),Neoplasms, Cardiac,Neoplasms, Heart,Primary Cardiac Tumors, Childhood,Cancer, Cardiac,Cancer, Heart,Cancers, Cardiac,Cancers, Heart,Carcinoma, Cardiac,Carcinomas, Cardiac,Cardiac Cancers,Cardiac Carcinomas,Cardiac Neoplasm,Heart Cancers,Heart Neoplasm,Heart Tumors,Myocardial Tumor (Rhabdomyomas and Fibromas),Neoplasm, Cardiac,Neoplasm, Heart,Tumor, Cardiac,Tumor, Heart,Tumor, Myocardial (Rhabdomyomas and Fibromas),Tumors, Cardiac,Tumors, Heart,Tumors, Myocardial (Rhabdomyomas and Fibromas)
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012207	Rhabdomyoma	A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)	Rhabdomyomas
D013614	Tachycardia, Paroxysmal	Abnormally rapid heartbeats with sudden onset and cessation.	Paroxysmal Reciprocal Tachycardia,Paroxysmal Reciprocal Tachycardias,Paroxysmal Tachycardia,Paroxysmal Tachycardias,Reciprocal Tachycardia, Paroxysmal,Reciprocal Tachycardias, Paroxysmal,Tachycardia, Paroxysmal Reciprocal,Tachycardias, Paroxysmal,Tachycardias, Paroxysmal Reciprocal
D014402	Tuberous Sclerosis	Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.	Bourneville Disease,Epiloia,Phakomatosis, Bourneville,Adenoma Sebaceum,Bourneville Phakomatosis,Bourneville Syndrome,Bourneville's Disease,Bourneville's Syndrome,Bourneville-Pringle Disease,Bourneville-Pringle's Disease,Cerebral Sclerosis,Phacomatosis, Bourneville,Sclerosis Tuberosa,Tuberose Sclerosis,Tuberous Sclerosis Complex,Bourneville Phacomatosis,Bourneville Pringle Disease,Bourneville Pringle's Disease,Bourneville-Pringles Disease,Cerebral Scleroses,Disease, Bourneville-Pringle,Disease, Bourneville-Pringle's,Sclerosis, Cerebral,Sclerosis, Tuberose,Sclerosis, Tuberous,Syndrome, Bourneville,Syndrome, Bourneville's