DeCure for Familial atrioventricular septal defect
DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for familial atrioventricular septal defect — screening already-approved drugs against its 7-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleFamilial atrioventricular septal defect maps to a 7-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 familial atrioventricular septal defect 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
T-box transcription factor 5 (TBX5) — TBX5 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 2-{2-[2-(2-ethoxy-ethoxydrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2X6U · 1.9 Å · ligand 2-{2-[2-(2-{2-[2-(2-ETHOXY-ETHOXY)-ETHOXY]-ETHOXY}-ETHOXY)-ETHOXY]-ETHOXY}-ETHANOL (PE4). Experimental structure, not a prediction.
What the evidence adds up to
A 1994 report describes a mother and her two daughters from different fathers, all with atrioventricular septal defect and no trisomy 21. The authors raise the possibility of cytoplasmic or mitochondrial inheritance, but note that available data from other familial atrioventricular septal defect pedigrees do not support this mechanism. They conclude that a subgroup of non-trisomy 21 familial cases may represent a single gene disorder.
A 1985 report describes a mother and two children with pulmonary stenosis, atrial septal defect, and unique electrocardiogram abnormalities. The authors state this constellation is previously unreported and that the inheritance pattern is consistent with autosomal dominant transmission. This is a different lesion from atrioventricular septal defect.
A 2022 case report describes a middle-aged female with a two-year history of worsening dyspnea and recurrent chest infections due to undiagnosed partial atrioventricular septal defect. The authors conclude that a screening program is needed to detect asymptomatic cases early and prevent delayed consequences. No numbers of patients, survival rates, or response rates are given in any of these abstracts. No drug is mentioned in any abstract.
What is still missing: no molecular genetic data, no large family cohort studies, no animal models, no funding for systematic screening or genetic testing in asymptomatic relatives, and no trial design for any intervention.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Heart · 1994 · 25 citations · open access
Familial atrioventricular septal defect: possible genetic mechanisms.
AbstractBACKGROUND: Most non-chromosomal congenital heart defects are thought to be caused by the interaction of genetic factors involving multiple genes and environmental factors. Families that have several affected members have been reported, however, which suggests that a single autosomal dominant or recessive gene may cause the cardiac defects. A family in which atrioventricular septal defect seemed to be a single gene disorder is reported. OBSERVATIONS: A family in which the mother and her two daughters from different fathers had atrioventricular septal defect not associated with trisomy 21 is reported. CONCLUSIONS: This family raises the possibility that cytoplasmic or mitochondrial inheritance may be involved in the causation of atrioventricular septal defects. The available data from pedigrees from other cases of familial atrioventricular septal defect do not support this genetic mechanism, but suggest that there is a subgroup without trisomy 21 that has a single gene disorder.
AbstractThe familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. Familial pulmonary stenosis not occurring as part of a named syndrome or without associated multiple congenital abnormalities is rare. The constellation of pulmonary stenosis, atrial septal defect, and the particular electrocardiogram abnormalities present here is to our knowledge previously unreported. The pattern of inheritance is consistent with an autosomal dominant mode of transmission.
Kufa Medical Journal · 2022 · 0 citations · open access
Late Presentation of Partial Atrioventricular Septal Defect: A Case Report
AbstractAtrioventricular septal defect is a spectrum of congenital heart defects that can be classified as either complete or partial with the complete form being the most common and usually present in the neonatal period with congestive heart failure. However, partial defects can remain asymptomatic and present later in adulthood with variable degrees of heart failure. The case under investigation is a middle aged female with a 2-year history of worsening dyspnea and recurrent chest infections due to undiagnosed partial atrioventricular septal defects. As a conclusion, it is important to establish a screening program to detect the asymptomatic cases early and prevent delay consequences.
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.
