Related Experiment Video

Updated: Aug 19, 2026

Analysis of Tubular Membrane Networks in Cardiac Myocytes from Atria and Ventricles
10:30

Analysis of Tubular Membrane Networks in Cardiac Myocytes from Atria and Ventricles

Published on: October 15, 2014

Cardiac rhabdomyomas and their association with tuberous sclerosis

D W Webb1, R D Thomas, J P Osborne

  • 1Bath Unit for Research into Paediatrics, Royal United Hospital, Combe Park.

Archives of Disease in Childhood
|March 1, 1993
PubMed

Insights

Cardiac rhabdomyomas are rare in children, with a minimum birth incidence of 1/326,000. Most affected children (80%) also have tuberous sclerosis, a genetic disorder.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Oncology

Background:

  • Cardiac rhabdomyomas are benign tumors of the heart, most commonly diagnosed in infants and children.
  • Tuberous sclerosis is a genetic disorder that can cause tumors to grow in various organs, including the heart.

Purpose of the Study:

  • To determine the birth incidence of cardiac rhabdomyomas in children.
  • To describe the clinical presentation, course, and outcomes of affected children.
  • To establish the frequency of cardiac rhabdomyomas in patients with tuberous sclerosis.

Main Methods:

  • A retrospective search was conducted using data from the British Cardiac Society's pediatric section.
  • Fifteen children with cardiac rhabdomyomas were identified.
  • Echocardiography was used to assess the prevalence of cardiac rhabdomyomas in tuberous sclerosis patients.

Main Results:

  • The minimum birth incidence of cardiac rhabdomyomas is estimated at 1/326,000.
  • Tuberous sclerosis was diagnosed in 80% (12/15) of children with cardiac rhabdomyomas.
  • Heart failure was the most common presentation (6/15), with a high mortality rate (5/6).
  • In patients with tuberous sclerosis, 60% of those under 18 years had cardiac rhabdomyomas.

Conclusions:

  • Cardiac rhabdomyomas are rare but serious conditions in children, strongly associated with tuberous sclerosis.
  • Early diagnosis and management are crucial for improving outcomes in affected children.
  • Further research is needed to understand the long-term prognosis and optimal treatment strategies.

More Related Videos

Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas09:21

Tumorsphere Derivation and Treatment from Primary Tumor Cells Isolated from Mouse Rhabdomyosarcomas

Published on: September 13, 2019

Magnetic Resonance-Guided High Intensity Focused Ultrasound Generated Hyperthermia: A Feasible Treatment Method in a Murine Rhabdomyosarcoma Model13:41

Magnetic Resonance-Guided High Intensity Focused Ultrasound Generated Hyperthermia: A Feasible Treatment Method in a Murine Rhabdomyosarcoma Model

Published on: January 13, 2023

Related Concept Videos

mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...