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Published on: June 11, 2019
[Asymptomatic course of rhabdomyoma of the heart]
S A Chepurnenko1, A D Nasytko2, G V Shavkuta2
1Rostov Regional Clinical Hospital.
Insights
This case highlights a rare cardiac rhabdomyoma diagnosed late in an 18-year-old female with tuberous sclerosis. The tumor showed prolonged asymptomatic growth, emphasizing the need for cardiac screening in suspected neurological conditions.
Area of Science:
- Cardiology
- Neurology
- Oncology
Background:
- Cardiac rhabdomyomas are typically diagnosed in infancy or early childhood.
- Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organs, including the heart and brain.
- Early diagnosis and management of TSC-related manifestations are crucial for patient outcomes.
Observation:
- A clinical case of cardiac rhabdomyoma is presented in an 18-year-old female, diagnosed significantly later than usual.
- The patient had a history of neurological symptoms since infancy, eventually diagnosed with tuberous sclerosis, epilepsy, and psychoorganic syndrome.
- Cardiac imaging revealed multiple myocardial masses consistent with rhabdomyomas, which had shown prolonged asymptomatic growth.
Findings:
- Cardiac rhabdomyomas were identified at age 18 via echocardiography and MRI, with sizes up to 9x7 mm.
- The tumors were located in the left ventricular myocardium and showed moderate contrast accumulation.
- Despite neurological involvement, cardiac rhabdomyomas were asymptomatic and hemodynamically stable at diagnosis.
Implications:
- This case underscores the potential for late diagnosis of cardiac rhabdomyomas, even in the presence of tuberous sclerosis.
- It highlights the importance of comprehensive cardiac evaluation in patients with TSC, regardless of age or cardiac symptoms.
- Long-term monitoring and potential intervention with therapies like everolimus are crucial if tumor growth is observed.
Abstract:
The article describes a clinical case of cardiac rhabdomyoma first diagnosed in an 18-year-old girl. At the age of 12 months, the patient first developed generalized, prolonged convulsive seizure with the eyeballs rolling upward, tonic arm tension, and profuse salivation. From 1.5 to 2 years, according to her mother, the girl had frequent "freezing" with fixed stare. Anticonvulsant therapy was not administered. From the age of 2 years 8 months, the child began to experience episodes of drowsiness, lethargy, blurred speech, and repeated vomiting lasting up to 2 weeks. The patient was regularly treated at the neurological department. According to CT at the age of four, the patient showed characteristic alterations in the brain and was diagnosed with tuberous sclerosis, symptomatic generalized epilepsy, and psychoorganic syndrome. Only at the age of 18, cardiac ultrasound detected a 7x6 mm hyperechoic formation with endogenous growth buried in the myocardium of the left ventricular (LV) anterior-lateral wall and another one in the area of the LV lateral wall with endogenous growth of 2×4 mm. Magnetic resonance imaging (MRI) revealed multiple focal formations with clear, even contours in the area of the middle anterior septal segment (closely adjacent to papillary muscles) in the region of the apex, buried in the myocardium. The formation sizes were 9×7 mm, 8×13 mm, and 7.5×6 mm, respectively, and they moderately accumulated the contrast agent. Lesions with identical characteristics and a diameter up to 4.5 mm were visualized on the anterior wall in the region of the apex, in the depth of the myocardium. Due to the absence of arrhythmias and hemodynamic disorders, immunosuppressive therapy was not administered. Follow-up and dynamic MRI control of the heart were recommended. If signs of tumor growth are detected, consider immunosuppressive therapy with everolimus. The case is of interest for a long asymptomatic growth of rhabdomyoma. Generally, cardiac rhabdomyomas are diagnosed in the postnatal period and may be the earliest manifestation of tuberous sclerosis.
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