ArticleOrphanet journal of rare diseases2026
Original investigation: evolution of long-term cardiac tumours in patients with tuberous sclerosis.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe tuberous sclerosis complex is an autosomal dominant genetic disorder caused by mutations in the TSC 1 or 2 genes. Cardiac rhabdomyomas are the most frequent initial manifestation and leading cause of mortality in children under 10 years of age. Data on Brazilian patients with rhabdomyomas are scarce.
objectivesThis study aims to describe the diagnostic aspects and clinical features observed during the follow-up at a high-complexity cardiology centre.
methodsThis was a retrospective, descriptive, single-centre study, based on medical records. Patients of all age groups and sexes were included, with a confirmed diagnosis of tuberous sclerosis and at least two serial transthoracic echocardiograms performed at the service from January 1997 to January 2024. Patients with uncertain diagnoses and incomplete records were excluded.
resultsAmong the 69 patients evaluated, 42 (60.86%) had cardiac tumours, with 41 rhabdomyomas and one pericardial lipoma, with a mean follow-up time of 6 years. The median age of the cohort at first evaluation was 3.5 years [1.0; 15.8]. Multiple tumours were observed in 75.6% of cases. Most patients with rhabdomyomas were asymptomatic at 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. Incomplete involution of the mass occurred in 76.2% of cases, complete regression in 16.7%, and maintenance, increase, or need for surgical treatment in 7.2%.
conclusionsOur 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 clinical relevance of persistent lesions as potential arrhythmogenic substrates requiring long‑term surveillance.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.