Echocardiography is routinely performed in patients with tuberous sclerosis to search for cardiac rhabdomyomas.
Rhabdomyoma of the right ventricle in a newborn, causing obstruction of the tricuspid valve. Copyright Armed Forces Institute of Pathology.
Clinical description at the Online Mendelian Inheritance in Man OMIM database.
Rhabdomyoma of the heart: pathological specimen. This image is located on the Web Path Internet Pathology Laboratory for Medical Education at the University of Utah.
1. Nir A, Tajik AJ, Freeman WK, Seward JB, Offord KP, Edwards WD, Mair D, Gomez MR. Tuberous sclerosis and cardiac rhabdomyoma. Am J Cardiol 1995 Aug 15;76(5):419-21
Echocardiographically detected cardiac rhabdomyomata were common in patients with tuberous sclerosis. They were more prevalent and prominent in the younger patient. Tumors regress in size or number, or both, in most patients aged less than 4 years, and less so in older patients.
2. Muhler EG, Turniski-Harder V, Engelhardt W, von Bernuth G. Cardiac involvement in tuberous sclerosis. Br Heart J 1994 Dec;72(6):584-90
Fourteen of twenty one patients with tuberous sclerosis aged 1 day to 16 years (mean 6.3 years) had multiple cardiac rhabdomyomas in the right ventricle (11) and left ventricle (14) as well as in the right atrium (1). Two had obstruction of the left ventricular inflow and outflow tract related to a tumour. Cardiac rhabdomyomas, although often present in these patients with tuberous sclerosis, caused neither major arrhythmias nor haemodynamic obstruction except in the neonatal period.
3. Jozwiak S, Kawalec W, Dluzewska J, Daszkowska J, Mirkowicz-Malek M, Michalowicz R. Cardiac tumours in tuberous sclerosis: their incidence and course. Eur J Pediatr 1994 Mar;153(3):155-7
Echocardiography was performed in 47 children with tuberous sclerosis. Tumours were found in 22. One newborn had clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumor regression occurred in 6 patients.
4. Webb DW, Thomas RD, Osborne JP. Echocardiography and genetic counselling in tuberous sclerosis. J Med Genet 1992 Jul;29(7):487-9
To assess echocardiography as an investigation for the detection of occult gene carriers in tuberous sclerosis, sixty parents of children with tuberous sclerosis had echocardiograms. Two parents and three controls had bright echodense areas interpreted as possible rhabdomyomas. Echocardiography of adults is not an investigation with a high specificity for gene detection in tuberous sclerosis.
5. Watson GH. Cardiac rhabdomyomas in tuberous sclerosis. Ann N Y Acad Sci 1991;615:50-7
Echocardiography was performed in 60 people with tuberous sclerosis to ascertain the prevalence of cardiac rhabdomyomas at different ages. Twenty-five of 43 children, but only 3 of 17 adults, had tumors, the difference being highly significant. The number and absolute size of the tumors in those who had any were much the same throughout childhood, although the tumors in adults were smaller.
Back to E-chocardiography Home Page.
The contents and links on this page were last checked on June 6, 2001.