Publish in this journal
Journal Information
Vol. 66. Issue 5.
Pages 402 (May 2013)
Share
Share
Download PDF
More article options
Vol. 66. Issue 5.
Pages 402 (May 2013)
Image in cardiology
DOI: 10.1016/j.rec.2011.06.012
Full text access
Cardiac Involvement in Tuberous Sclerosis
Afección cardiaca en la esclerosis tuberosa
Visits
...
Ernesto Valero
Corresponding author
ernestovaleropicher@hotmail.com

Corresponding author:
, Gema Miñana, Francisco J. Chorro
Servicio de Cardiología, Hospital Clínico Universitario, Valencia, Spain
This item has received
...
Visits
(Daily data update)
Article information
Full Text
Download PDF
Statistics
Figures (3)
Show moreShow less
Full Text

Tuberous sclerosis or Bourneville's disease is a genetic disorder of autosomal dominant inheritance with high frequency and variable expression that increases predisposition for benign tumors in neuro-ectodermal tissues, particularly of the central nervous system and the skin. It is a very rare disease (5 to 7 per 10 000 live births) that is characterized by the triad of: skin lesions, seizures, and mental retardation. Among its extracutaneous manifestations, the cardiac involvement stands out (present in 30%-50% of cases), always in the form of cardiac rhabdomyomas.

We report the case of a 29-year-old woman who was diagnosed of tuberous sclerosis in childhood, with known cerebral, renal, and dermatological effects, referred to our hospital for echocardiography. The physical examination revealed the presence of numerous facial angiofibromas. The electrocardiogram was normal; we observed, in the parasternal view (Figs. 1A and B), two nodular, homogeneous, well defined, hyperechoic masses, located at the interventricular septum that protruded into both ventricles. In the apical 4-chambers view we observed a third mass of similar characteristics but smaller in size (Fig. 2), as well as a right ventricular moderator band that was thickened and hyperechoic if compared with normal features (Fig. 3).

(0.17MB).
(0.07MB).
(0.11MB).

Due to the patient's clinical context, we concluded that the intracardiac masses found were three intramural rhabdomyomas located at the interventricular septum.

Copyright © 2011. Sociedad Española de Cardiología
Idiomas
Revista Española de Cardiología (English Edition)

Subscribe to our newsletter

Article options
Tools
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

es en
Política de cookies Cookies policy
Utilizamos cookies propias y de terceros para mejorar nuestros servicios y mostrarle publicidad relacionada con sus preferencias mediante el análisis de sus hábitos de navegación. Si continua navegando, consideramos que acepta su uso. Puede cambiar la configuración u obtener más información aquí. To improve our services and products, we use "cookies" (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here.