SynthesisCirculation. Genomic and precision medicine2025
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (
Synthesis in Circulation. Genomic and precision medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed.
- Arrhythmogenic right ventricular cardiomyopathy.European heart journal · 2026Review
- Epidemiology of non-ischaemic dilated cardiomyopathy.Nature reviews. Cardiology · 2026Review
- Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy, from Arrhythmias to Heart Failure and Sudden Death: A Contemporary Review.Journal of clinical medicine · 2026Review
- A Diagnostic Dilemma of Arrhythmogenic Cardiomyopathy Masquerading as Recurrent Myocarditis in a Pediatric Patient with aJournal of cardiovascular development and disease · 2026Article
- A NovelCJC open · 2026Article
- Recurrent myocarditis-like episodes in a patient with a rare variant in DES gene: an uncommon hot-phases cardiomyopathy.ESC heart failure · 2026Article
- Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis.Biomedicines · 2025Review
- High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic Desmin (medRxiv : the preprint server for health sciences · 2025Article
- Family Screening in Relatives at Risk for Plakophilin-2-Associated Arrhythmogenic Right Ventricular Cardiomyopathy.Circulation · 2025Article
Corrections and comments
- Update of
Authors and funding
14 authors.
Funding
Abstract
backgroundPathogenic/likely pathogenic (LP) desmin (
methodsWe searched Medline (PubMed) and Embase for studies that evaluated cardiac phenotypes in patients with pathogenic/LP
resultsOf the 4212 screened publications, 71 met the inclusion criteria. A total of 230 patients were included (52.6% men, 52.2% probands, median age: 31 years [22.0-42.8] at first evaluation, median follow-up: 3 years [0-11.0]). Overall, 124 (53.9%) patients were diagnosed with cardiomyopathy, predominantly dilated cardiomyopathy (14.8%), followed by restrictive cardiomyopathy (13.5%), whereas other forms were less common: arrhythmogenic cardiomyopathy (7.0%), hypertrophic cardiomyopathy (6.1%), arrhythmogenic right ventricular cardiomyopathy (5.2%), and other forms (7.4%). Overall, 132 (57.4%) patients developed MACE, with 96 (41.7%) having cardiac conduction disease, 36 (15.7%) sustained VA, and 43 (18.7%) HF events. Familial penetrance of cardiac disease was 63.6% among relatives with pathogenic/LP
conclusions
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.