Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (526 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Congenital, inherited, or acquired anomalies of the cardiovascular system, including the heart and blood vessels.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Abnormalities, Cardiovascular; Abnormality, Cardiovascular; Cardiovascular Abnormality.
Where it fits in the MeSH classification
- Broader topics
- Cardiovascular Diseases; Congenital Abnormalities
- Narrower topics
- Heart Defects, Congenital; Vascular Malformations
- See also
- Heart Defects, Congenital
Related concepts
- Cardiovascular System
- Heart
- Blood Vessels
Research landscape
PubMed indexes 236,136 records tagged with the MeSH heading “Cardiovascular Abnormalities” (counts retrieved 2026-10-29). 39,624 of them (16.8%) were published from 2020 onward, and the busiest period so far is through 1999 with 91,550 records.
Reviews account for 24,601 records (10.4%) and meta-analyses for 1,283. Randomized controlled trials number 2,051 (0.9%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 91,550 |
| 2000-2009 | 42,092 |
| 2010-2019 | 62,870 |
| 2020 onward | 39,624 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 24,601 | 10.4% |
| Meta-analyses | 1,283 | 0.5% |
| Randomized controlled trials | 2,051 | 0.9% |
Method: PubMed query "Cardiovascular Abnormalities"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| A microphysiological system HHT-on-a-chip platform recapitulates patient vascular lesions | 2026 | Research article Design not recorded in structured metadata | 3 | cc by PMID 42722664 · DOI · PMC13562586 |
| Pharmacokinetics in the Fontan circulation: a multi-organ puzzle | 2026 | Review article Design not recorded in structured metadata | 1 | cc by PMID 42573180 · DOI · PMC13593209 |
| Targeting KIT prevents brain arteriovenous malformations driven by ALK1-deficient angiogenic endothelial cells | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42579368 · DOI · PMC13626853 |
A microphysiological system HHT-on-a-chip platform recapitulates patient vascular lesions [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Hereditary Hemorrhagic Telangiectasia (HHT) is a rare congenital disease in which fragile vascular malformations (VM) focally develop in multiple organs.
- Closing excerpt
- In summary, we have developed an HHT-on-a-chip model that faithfully reproduces HHT patient lesions and that can be used to better understand HHT disease biology and identify potential new HHT drugs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (147 words)
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare congenital disease in which fragile vascular malformations (VM) focally develop in multiple organs. There are few treatment options and no cure. HHT patients inherit loss-of-function mutations affecting Alk1-Eng signaling; however, why this manifests as VMs remains poorly understood. Here we have developed a fully human cell-based microphysiological system of perfused vasculature in which inducible shRNA controls endogenous Alk1 in primary endothelial cells (EC). Resulting VMs develop over several days, recapitulate patient VM appearance, and require only a subpopulation of Alk1-deficient EC to trigger lesions. Single-cell transcriptomics suggests microvessel pruning and regression contribute to VM, while loss of PDGFB implicates mural cell recruitment. Finally, pharmacological VEGF/VEGFR inhibition blocks lesion formation. In summary, we have developed an HHT-on-a-chip model that faithfully reproduces HHT patient lesions and that can be used to better understand HHT disease biology and identify potential new HHT drugs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42722664 · DOI · PMC13562586
Pharmacokinetics in the Fontan circulation: a multi-organ puzzle [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Patients with Fontan circulation represent a pharmacologically distinct population in whom the haemodynamic consequences of single-ventricle physiology alter every phase of drug disposition in ways that current prescribing practice systematically fails to account for.
- Closing excerpt
- This review examines the mechanistic basis of pharmacokinetic alterations across drug disposition, evaluate available drug-class evidence, and outlines a research agenda including physiologically based pharmacokinetic modelling, registry-embedded studies, and dedicated inclusion of Fontan patients in future trials.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (200 words)
Patients with Fontan circulation represent a pharmacologically distinct population in whom the haemodynamic consequences of single-ventricle physiology alter every phase of drug disposition in ways that current prescribing practice systematically fails to account for. Fontan-associated liver disease suppresses hepatic CYP enzyme activity and reduces first-pass metabolism, increasing bioavailability and systemic exposure of drugs. Hypoalbuminaemia from protein-losing enteropathy elevates the free fraction of highly protein-bound agents, rendering standard total drug concentration targets unreliable. Reduced cardiac output contracts the volume of distribution of hydrophilic drugs and diminishes renal perfusion, while creatinine-based glomerular filtration rate equations systematically overestimate true renal function due to reduced skeletal muscle mass, leading to inadequate dose reduction for renally cleared agents. These disturbances are predicted to affect the pharmacokinetics of every major cardiovascular drug class prescribed in this population, including anticoagulants, antiarrhythmics, neurohormonal antagonists, and pulmonary vasodilators, although direct Fontan-specific pharmacokinetic data remain scarce and confirm these effects for only a minority of agents, with dosing largely extrapolated from non-congenital populations. This review examines the mechanistic basis of pharmacokinetic alterations across drug disposition, evaluate available drug-class evidence, and outlines a research agenda including physiologically based pharmacokinetic modelling, registry-embedded studies, and dedicated inclusion of Fontan patients in future trials.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42573180 · DOI · PMC13593209
Targeting KIT prevents brain arteriovenous malformations driven by ALK1-deficient angiogenic endothelial cells [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Hereditary hemorrhagic telangiectasia type 2 (HHT2), caused by mutations in ACVRL1 (also known as ALK1), is characterized by brain arteriovenous malformations (bAVMs), abnormal artery-vein connections for which treatment options remain limited.
- Closing excerpt
- These findings identify a pathogenic angiogenic EC state and position KIT signaling as a therapeutically actionable pathway in bAVMs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (179 words)
Hereditary hemorrhagic telangiectasia type 2 (HHT2), caused by mutations in ACVRL1 (also known as ALK1), is characterized by brain arteriovenous malformations (bAVMs), abnormal artery-vein connections for which treatment options remain limited. Despite evidence of endothelial cell (EC) heterogeneity, its role in bAVM pathogenesis remains poorly defined. Using EC-specific inducible Alk1-knockout mice (Alk1iECKO) and regionally resolved single-cell RNA sequencing, we showed that loss of ALK1 signaling induces bAVMs predominantly in the perineural vascular plexus. This process is driven by the emergence of a KIT+ angiogenic EC population with human AVM-like transcriptional features, including tip cell markers and activation of PI3K and KRAS signaling pathways. Cross-species analyses and validation in human samples demonstrated that KIT expression is conserved in ECs from both sporadic and HHT2 bAVMs. Drug-repurposing analysis identified KIT as a top actionable target, and we showed that Kit is directly repressed by BMP9/ALK1/SMAD4 signaling. Pharmacological inhibition of KIT reduced angiogenic reprogramming and vascular malformations in vivo without affecting normal vasculature. These findings identify a pathogenic angiogenic EC state and position KIT signaling as a therapeutically actionable pathway in bAVMs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42579368 · DOI · PMC13626853
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials [4]
- Research article Assisted Reproductive Techniques and Risk of Congenital Heart Diseases in Children: a Systematic Review and Meta-analysis [5]
- Research article Association Between Maternal Factors and Risk of Congenital Heart Disease in Offspring: A Systematic Review and Meta-Analysis [6]
- Research article Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review [7]
- Research article Patent Ductus Arteriosus and Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension: A Bayesian Meta-Analysis [8]
- Research article Active Treatment vs Expectant Management of Patent Ductus Arteriosus in Preterm Infants: A Meta-Analysis [9]
References
- Fang JS, Hatch CJ, Andrejecsk J, Van Trigt W, Gonzales JR, Juat DJ, et al.. A microphysiological system HHT-on-a-chip platform recapitulates patient vascular lesions. . 2026. PMID 42722664 · DOI · PMC13562586
- Vlachakis PK, Drakopoulou M, Theofilis P, Karakasis P, Leontsinis I, Tsioufis K, et al.. Pharmacokinetics in the Fontan circulation: a multi-organ puzzle. . 2026. PMID 42573180 · DOI · PMC13593209
- Drapé E, Carrier L, Cagnone G, Fuad ARM, Bizou M, Sanchez D, et al.. Targeting KIT prevents brain arteriovenous malformations driven by ALK1-deficient angiogenic endothelial cells. . 2026. PMID 42579368 · DOI · PMC13626853
- Pitcher A, Spata E, Emberson J, Davies K, Halls H, Holland L, et al.. Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Lancet. 2022. PMID 36049495 · DOI · PMC7613630
- Gullo G, Scaglione M, Laganà AS, Perino A, Andrisani A, Chiantera V, et al.. Assisted Reproductive Techniques and Risk of Congenital Heart Diseases in Children: a Systematic Review and Meta-analysis. Reprod Sci. 2023. PMID 37145300 · DOI · PMC10556115
- Wu L, Li N, Liu Y. Association Between Maternal Factors and Risk of Congenital Heart Disease in Offspring: A Systematic Review and Meta-Analysis. Matern Child Health J. 2023. PMID 36344649 · DOI · PMC9867685
- Liu Y, Chen S, Zühlke L, Babu-Narayan SV, Black GC, Choy MK, et al.. Global prevalence of congenital heart disease in school-age children: a meta-analysis and systematic review. BMC Cardiovasc Disord. 2020. PMID 33213369 · DOI · PMC7678306
- Villamor E, van Westering-Kroon E, Gonzalez-Luis GE, Bartoš F, Abman SH, Huizing MJ. Patent Ductus Arteriosus and Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension: A Bayesian Meta-Analysis. JAMA Netw Open. 2023. PMID 38015504 · DOI · PMC10685885
- Buvaneswarran S, Wong YL, Liang S, Quek SC, Lee J. Active Treatment vs Expectant Management of Patent Ductus Arteriosus in Preterm Infants: A Meta-Analysis. JAMA Pediatr. 2025. PMID 40423988 · DOI · PMC12117495
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.