DeCure for Arrhythmogenic right ventricular dysplasia 12
DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for arrhythmogenic right ventricular dysplasia 12 — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleArrhythmogenic right ventricular dysplasia 12 maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for arrhythmogenic right ventricular dysplasia 12 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
junction plakoglobin (JUP) — JUP is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3IFQ · 2.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Arrhythmogenic right ventricular dysplasia is a rare inherited cardiomyopathy characterised by right ventricular dysfunction and ventricular arrhythmias. A 1997 case series of three sudden deaths describes a normal or mildly increased heart weight with right-sided dilatation, where a proportion of the right ventricular muscle is replaced by fat and fibrous tissue. The condition can cause ventricular fibrillation and sudden death, especially in young people during strenuous exercise or severe emotional stress. The aetiology was then unknown, though familial clustering was noted.
By 2005, most forms were understood to result from mutations in genes encoding desmosomal junction proteins, which may explain why the thin right ventricle is preferentially affected. Magnetic resonance imaging is a very sensitive diagnostic tool but also the most common reason for overdiagnosis. In the USA, most patients who meet the Task Force criteria undergo placement of an implantable cardioverter defibrillator for prevention of sudden cardiac death.
A 2021 case report describes a 20-year-old male who suffered an out-of-hospital cardiac arrest while playing basketball. He had biventricular failure with a left ventricular ejection fraction of 5–10%, required VA-ECMO for cardiogenic shock, and an endomyocardial biopsy showed inflammatory infiltrate and focal myocyte damage. He recovered without immunosuppressive medication and was discharged on day 7 with full left ventricular recovery. One month later, his echocardiogram showed a dyskinetic and dilated right ventricle with a normal left ventricle. Genetic testing revealed a PKP2 mutation, and the diagnosis was revised from myocarditis to arrhythmogenic right ventricular cardiomyopathy/dysplasia. The authors note that myocarditis can mimic the condition and that VA-ECMO can be used as a bridge to recovery.
What is still missing are prospective trials that distinguish arrhythmogenic right ventricular dysplasia from myocarditis at presentation, validated biomarkers to guide that distinction, and any drug therapy shown to alter the natural history of the disease in a controlled study. No drug is mentioned in any of these abstracts.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Current Opinion in Cardiology · 2005 · 95 citations
AbstractPURPOSE OF REVIEW: Arrhythmogenic right-ventricular dysplasia is a rare inherited disease characterized by right-ventricular dysfunction and ventricular arrhythmias. The purpose of this article is to review recent developments concerning the diagnosis, genetics, and management of patients with this disease. RECENT FINDINGS: In the past few years important new information has emerged regarding the role of magnetic resonance imaging in the diagnosis of arrhythmogenic right-ventricular dysplasia. Although magnetic resonance imaging is a very sensitive tool, it is also the most common reason for over diagnosis of this condition. There have also been important new breakthroughs in the genetic basis of arrhythmogenic right-ventricular dysplasia; it now appears that most forms result from mutations in genes encoding desmosomal junction proteins. This may explain why arrhythmogenic right-ventricular dysplasia preferentially impacts the thin right ventricle. Other studies have demonstrated the important role of implantable cardioverter defibrillator therapy in the management of patients with arrhythmogenic right-ventricular dysplasia. In the USA, most patients who meet the Task Force criteria for the disease undergo placement of an implantable cardioverter defibrillator for prevention of sudden cardiac death. SUMMARY: Arrhythmogenic right-ventricular dysplasia is a rare disease. Recent new findings concerning the diagnosis and management of these patients should have direct implications regarding the evaluation and management of patients with this rare, but potentially life-threatening, disorder.
4. Arrhythmogenic Right Ventricular Dysplasia (ARVD): An Overlooked and Underdiagnosed Condition?
AbstractWe present three cases of arrhythmogenic right ventricular dysplasia causing or contributing to sudden death. These cases serve to highlight the range of clinical presentations and histological features seen in this rare and poorly understood condition. Arrhythmogenic right ventricular dysplasia (ARVD) is a cardiomyopathy characterized by a normal or mild increase in heart weight with right-sided heart dilatation. Typically a proportion of the right ventricular muscle is replaced by fat and fibrous tissue. Clinically, the condition is characterized by episodes of ventricular tachycardia and global dyskinesia of the right ventricle. It may cause ventricular fibrillation and sudden death, especially in young persons engaged in strenuous exercise or who experience severe emotional outburst. The aetiology of the condition is unknown, although it has been noted to show familial clustering in some cases.
Cardiology and Cardiovascular Medicine · 2021 · 0 citations · open access
Diagnostic Overlap between Arrhythmogenic Right Ventricular Cardiomyopathy and Myocarditis
AbstractBackground: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy. Case: 20 years old male had out of hospital cardiac arrest while playing basketball. Bystander CPR was started immediately, and ROSC was achieved after 2 shocks for Vfib. He was intubated and urgently taken to the local cardiac catherization lab. LHC showed normal coronary anatomy. Echo showed biventricular failure with LVEF of 5-10%. He was transferred to our hospital for advanced heart failure therapies. EKG showed normal sinus rhythm with T wave inversions in V1-V3 lead, normal QTc. Emergent RHC with endomyocardial biopsy was performed. Decision was made to proceed with VA-ECMO placement for cardiogenic shock. The biopsy showed inflammatory infiltrate and focal associated myocyte damage. He started showing signs of recovery on day 2 without needing immunosuppressive medications. He was diagnosed with myocarditis and discharged on day 7 with full LVEF recovery. One month later, he is asymptomatic. His echo shows dyskinetic and dilated RV with normal LV. Genetic testing showed PKP2 mutation. Hence, the diagnosis was modified to ARVC/D. Conclusion: ARVD poses a diagnostic challenge, high index of clinical suspicion is required. Myocarditis can mimic ARVD. VA-ECMO can be utilized as bridge to recovery in these patients.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
