Why the study?
Diagnosis of tuberous sclerosis is often delayed for years, while early diagnosis can help prevent irreversible complications from cardiac hamartomas such as valvopathies and tract obstruction.
Case Report (n=1)
This case highlights the rare presentation of infective endocarditis and severe aortic stenosis associated with a cardiac tumor in an adult with tuberous sclerosis, emphasizing the utility of echocardiography in this population.
Successful short-term outcome after surgery in this rare case; extends sparse literature on tuberous sclerosis cardiac tumors but should not change practice.
Tuberous sclerosis (TS) is a multisystem neurocutaneous disorder with an autosomal dominant pattern of inheritance. It is characterized by hamartomas that damage the skin, kidneys, lungs, heart, and central nervous system, among other organs. Rhabdomyomas, benign tumors of aberrant myocytes, are common in affected patients at birth. Depending on their size and location, these lesions might create valvopathies, which can cause heart failure or malignant arrhythmias, or they can cause obstruction of the outlet or inlet tract. Before making the diagnosis, a long time-even years-often passes. Early diagnosis can help prevent permanent irreversible complications. Differential diagnoses may include neurofibromatosis type 1, Sturge-Weber syndrome, and von Hippel-Lindau disease, among others. Diagnostic aids, such as MRI, CT scans, and genetic testing, can be useful in confirming a diagnosis of TS. Histological findings may include the presence of hamartomas, which are benign tumors composed of abnormal cells. Treatment for TS is mainly supportive and may involve medications to manage symptoms, and surgery to remove tumors. We present the case of a 23-year-old woman with TS who was admitted with macroscopic hematuria and fever, with further workup revealing tumor-like cardiac lesions associated with infective endocarditis.
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González et al. (2023) conducted a case report in Tuberous Sclerosis, Aortic Stenosis, Infective Endocarditis (n=1). Aortic valve replacement with bioprosthesis and resection of the aortic subvalvular membrane, with right radical laparoscopic nephrectomy was evaluated on Post-surgical evolution and recurrence of bleeding.
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