ReviewGenetics in medicine : official journal of the American College of Medical Genetics2008
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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
31 citing papers in PubMed, 150 citations in OpenAlex.
- Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.Neurology international · 2025Review
- The Complex Puzzle of Hypertrophic Phenotype: A Practical Approach for the Clinician.Arquivos brasileiros de cardiologia · 2025Review
- Endoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.Journal of clinical medicine · 2025Article
- Review
- Multimodality Imaging in Noonan Syndrome: Case Series of Young Children.Radiology. Cardiothoracic imaging · 2023Article
- Article
- Noonan syndrome: improving recognition and diagnosis.Archives of disease in childhood · 2022Review
- Mutational Assessment inInternational journal of environmental research and public health · 2022Article
- 22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.Children (Basel, Switzerland) · 2022Review
- Management of Coarctation of The Aorta in Adult Patients: State of The Art.Korean circulation journal · 2019Review
- Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.American journal of medical genetics. Part A · 2018Review
- Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report.BMC cardiovascular disorders · 2018Article
- Echocardiographic manifestations and chemical composition of stenotic bicuspid aortic valves.Journal of materials science. Materials in medicine · 2018Article
- Circulating mRNA in Maternal Plasma at the Second Trimester of Pregnancy: A Possible Screening Tool for Cardiac Conotruncal and Left Ventricular Outflow Tract Abnormalities.Molecular diagnosis & therapy · 2017Article
- Pulmonic Valve Disease: Review of Pathology and Current Treatment Options.Current cardiology reports · 2017Review
- Noonan syndrome - a new survey.Archives of medical science : AMS · 2017Article
- Low-dose dasatinib rescues cardiac function in Noonan syndrome.JCI insight · 2016Article
- Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.Pediatric cardiology · 2016Article
- Cytogenomic Aberrations in Congenital Cardiovascular Malformations.Molecular syndromology · 2016Review
- CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Cardiology in the young · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 12 institutions in 1 country.
Funding
Abstract
Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome.
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.