Original Investigation: Evolution of Long-Term Cardiac Tumors in Patients with Tuberous Sclerosis

  1. Nathalia Conci Santorio
  2. Anna Christina Ribeiro
  3. Nilson Bossle Conci
  4. Gardênia da Silva Lobo Oishi
  5. Pandreli Testa Santorio
  6. Maria Rosa Quadrado Matos
  7. Nana Miura Ikari
  8. Fábio Fernandes
  9. Viviane Tiemi Hotta
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Abstract

Background

The tuberous sclerosis complex is an autosomal dominant genetic disorder, resulting from mutations in the tumor suppressor genes Tuberous Sclerosis Complex 1 or 2. Cardiac rhabdomyomas are the most frequent initial manifestation and are the main causes of mortality in patients under 10 years of age. Data on the evolution and follow-up of Brazilian patients with rhabdomyomas associated with tuberous sclerosis are scarce. This study aims to describe diagnostic aspects and clinical features observed during the follow-up in a high-complexity cardiological institution.

Methods

It is a retrospective, descriptive, single-center study based on the collection of data from the institution’s medical records. Patients in the pediatric age group (zero to 18 years) and adult age group (over 18 years) of both genders were included, with a confirmed diagnosis of tuberous sclerosis based on the updated 2021 criteria, from January 1997 to January 2024. Patients with at least two serial transthoracic echocardiograms performed at the service were included, and patients with doubtful diagnoses and incomplete records were excluded.

Results

Among the 69 patients evaluated, 42 (60.86%) had cardiac tumors, with 41 rhabdomyomas and one pericardial lipoma, with a mean follow-up time of 6 years. Cardiac tumors were more frequently multiple, in 75.6% of cases. The vast majority of patients with rhabdomyomas were asymptomatic in both evaluations (73.8% and 85.71%, respectively); however, episodes of arrhythmia were recorded in 21.43% of the sample during follow-up. Only one patient presented with ventricular dysfunction, and one patient required surgical treatment, resulting in death. Regarding clinical evolution, the most frequent presentation was incomplete involution of the mass in 76.2% of cases, with complete regression in 16.7% of cases and maintenance, increase, or need for surgical treatment in 7.2% of cases. No association was found for any tested variable (age, sex, use of mTOR inhibitors, and multiple tumors) with clinical evolution.

Conclusions

Our data indicate a considerable prevalence of arrhythmias and the persistence of identifiable masses throughout follow-up in a brazilian cohort of patients with tuberous sclerosis complex, emphasizing the need for continued cardiological monitoring.

Clinical Perspective

What is new?

  • Incomplete regression of cardiac rhabdomyomas was the most frequent outcome, occurring in 76.2% of cases.

  • A notable prevalence of arrhythmias (21.43%) was observed during follow-up, despite most patients being asymptomatic.

What are the clinical implications?

  • The significant occurrence of arrhythmias underscores the necessity for ongoing cardiac monitoring in patients with tuberous sclerosis complex, even when asymptomatic.

  • The persistence of identifiable cardiac masses over time highlights the importance of regular imaging studies to assess tumor evolution.

Article activity feed

  1. Version published to 10.1101/2025.04.18.25326091v1 on medRxiv