ReviewClinical Medicine Insights. Cardiology2017
The Genetics of Aortopathies in Clinical Cardiology.
Review in Clinical Medicine Insights. Cardiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Thoracic Aortic Aneurysm Growth Rates and Predicting Factors: A Systematic Review and Meta-Analysis.Journal of the American Heart Association · 2025Pooled it
- Article
- Incidence and Pathology of Aortic Regurgitation.Interventional cardiology (London, England) · 2025Review
- Ethnic Differences in Ascending Aorta Dimensions and Dilatation Rates: A Systematic Review.Cureus · 2024Review
- A Dual Challenge:Journal of clinical medicine · 2024Review
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
- Baseline Diameter Does Not Predict Growth Rate in a Presurgical Ascending Thoracic Aortic Aneurysm Population.Journal of the American Heart Association · 2024Article
- Multidisciplinary hybrid approach to management of a thoracoabdominal aneurysm in a patient with both Loeys-Dietz and vascular Ehlers-Danlos syndrome.Journal of vascular surgery cases and innovative techniques · 2024Article
- Current understanding of the genetics of thoracic aortic disease.Vessel plus · 2024Article
- Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.Frontiers in molecular biosciences · 2024Article
- Promising Novel Therapies in the Treatment of Aortic and Visceral Aneurysms.Journal of clinical medicine · 2023Review
- Patterns of genetic mutations explored by systematic screening of patients with aortopathy and their family members.JTCVS open · 2023Article
- Aortopathies: From Etiology to the Role of Arterial Stiffness.Journal of clinical medicine · 2023Review
- Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.Molecular genetics & genomic medicine · 2023Article
- Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis.Frontiers in pediatrics · 2023Article
- Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.Croatian medical journal · 2022Article
- Genetic screening in heritable thoracic aortic disease-rationale, potentials and pitfalls.Indian journal of thoracic and cardiovascular surgery · 2022Article
- Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.Frontiers in pediatrics · 2021Article
- Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.Orphanet journal of rare diseases · 2020Article
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets. This review will summarize the pathogenetic mechanisms and management of heritable genetic aortopathies with attention to specific forms of both syndromic and nonsyndromic disorders, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, and familial thoracic aortic aneurysm and dissection.
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.