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Cardiac Rhabdomyoma: Causes, Symptoms, Treatments
Cardiac rhabdomyoma is a rare and benign tumour of the heart, most commonly occurring in infants and young children. While these tumours can be alarming due to their location, they often regress spontaneously without intervention.
However, understanding the underlying causes, diagnosis, and treatment options is crucial for medical professionals and families affected by this condition.
Cardiac Rhabdomyoma
- Cardiac rhabdomyomas are tumours composed of striated muscle tissue. They are the most common cardiac tumours found in pediatric patients and are often associated with tuberous sclerosis complex (TSC),
- a genetic disorder that causes non-cancerous tumours to form in many different organs, including the heart.
- Cardiac Rhabdomyoma and Tuberous Sclerosis Approximately 50-86% of patients with cardiac rhabdomyoma have tuberous sclerosis.
- The genetic mutations responsible for TSC, specifically in the TSC1 and TSC2 genes, lead to uncontrolled cell growth and the development of tumours.
- Understanding this genetic link is vital for providing comprehensive care and counselling to families.
- The exact cause of cardiac rhabdomyoma is not entirely understood, but there is a significant association with tuberous sclerosis.
- Genetic mutations in TSC1 and TSC2 genes disrupt the regulation of cell proliferation, leading to tumour formation.
- These mutations are inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.
- Sporadic Cases of cardiac rhabdomyoma are linked to tuberous sclerosis, and some cases occur sporadically without any known genetic predisposition.
- The pathogenesis in sporadic cases remains largely unknown, requiring further research for a deeper understanding.
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Get Second OpinionSymptoms of Cardiac Rhabdomyoma
The symptoms of cardiac rhabdomyoma depend on the size and location of the tumour. Many infants with cardiac rhabdomyomas are asymptomatic, especially if the tumours are small. However, larger tumours can cause significant symptoms, including
- Heart murmurs
- Arrhythmias (irregular heartbeats)
- Obstruction of blood flow
- Heart failure
Treatment Options for Cardiac Rhabdomyoma
Observation and Monitoring
- In many cases, cardiac rhabdomyomas regress spontaneously over time, especially during the first few years of life.
- Asymptomatic or mildly symptomatic patients are usually managed with regular monitoring and follow-up echocardiograms.
Medical Management
- Medications may be prescribed to manage symptoms in patients experiencing arrhythmias or other cardiac complications.
- Antiarrhythmic drugs help control irregular heartbeats.
- Other medications may be used to support heart function.
Surgical Intervention
- Surgery is considered when the tumor significantly obstructs blood flow or causes severe symptoms that do not respond to medical management.
- Surgical removal carries risks, so the decision must be carefully weighed against potential benefits.
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Precautions for Cardiac Rhabdomyoma
While there is no way to prevent cardiac rhabdomyoma, certain precautions can help manage symptoms and prevent complications:
- Regular cardiac evaluations and follow-ups for early detection of changes
- Maintaining a healthy lifestyle with a balanced diet to support overall heart health
- Avoiding strenuous physical activities if advised by a healthcare provider
- Monitoring for signs of arrhythmias or heart failure and seeking medical attention if symptoms worsen
- Genetic counseling for families with a history of tuberous sclerosis to understand the risks and options for future pregnancies
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040-68334455Frequently Asked Questions
mTOR inhibitors and catheter-based techniques are being explored, but they are still under investigation
Testing for TSC1 and TSC2 mutations helps in early detection of tuberous sclerosis complex for timely intervention.
Patients with arrhythmias may need electrophysiological studies or, in rare cases, an ICD for prevention.
Spontaneously regressed tumors rarely recur, but new tumors may develop in tuberous sclerosis patients.
Small, asymptomatic tumors need periodic echocardiographic monitoring, with intervention only if symptoms arise.
Yes, especially in tuberous sclerosis, affecting the brain, kidneys, and skin, requiring multidisciplinary care.
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