Trial reportPloS one2013
Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.
Trial report in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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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
23 citing papers in PubMed, 38 citations in OpenAlex.
- Trial
- ABCC6 Involvement in Cerebral Small Vessel Disease: Potential Mechanisms and Associations.Genes · 2025Review
- The Purinergic Nature of Pseudoxanthoma Elasticum.Biology · 2024Review
- Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency.Intractable & rare diseases research · 2023Article
- Biology of mitral valve prolapse: from general mechanisms to advanced molecular patterns-a narrative review.Frontiers in cardiovascular medicine · 2023Review
- Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective.PloS one · 2022Article
- Review
- Commentary: Navigating the pitfalls in the surgical management of pseudoxanthoma elasticum.JTCVS techniques · 2021Article
- Phenotypes of Cardiovascular Diseases: Current Status and Future Perspectives.Phenomics (Cham, Switzerland) · 2021Review
- Minimally invasive surgical aortic valve replacement in setting of pseudoxanthoma elasticum.JTCVS techniques · 2021Article
- ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.International journal of molecular sciences · 2021Review
- Disruption of Abcc6 Transporter in Zebrafish Causes Ocular Calcification and Cardiac Fibrosis.International journal of molecular sciences · 2020Article
- Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.International journal of molecular sciences · 2019Review
- Evidence of Cardiovascular Calcification and Fibrosis in Pseudoxanthoma Elasticum Mouse Models Subjected to DOCA-Salt Hypertension.Scientific reports · 2019Article
- Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum.The Journal of investigative dermatology · 2018Article
- Clinical utility gene card: for pseudoxanthoma elasticum.European journal of human genetics : EJHG · 2018Article
- Genetics of syndromic and non-syndromic mitral valve prolapse.Heart (British Cardiac Society) · 2018Review
- The ABCC6 Transporter: A New Player in Biomineralization.International journal of molecular sciences · 2017Review
- Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders.The Journal of investigative dermatology · 2016Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundPseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue. Cardiac complications reportedly associated with PXE are mainly based on case reports.
methodsA cohort of 67 PXE patients was prospectively assessed. Patients underwent physical examination, electrocardiogram, transthoracic echocardiography, cardiac magnetic resonance imaging (CMR), treadmill testing, and perfusion myocardial scintigraphy (SPECT). Additionally, the hearts of a PXE mouse models (Abcc6(-/-)) and wild-type controls (WT) were analyzed.
resultsThree patients had a history of proven coronary artery disease. In total, 40 patients underwent exercise treadmill tests, and 28 SPECT. The treadmill tests were all negative. SPECT showed mild perfusion abnormalities in two patients. Mean left ventricular (LV) dimension and function values were within the normal range. LV hypertrophy was found in 7 (10.4%) patients, though the hypertrophy etiology was unknown for 3 of those patients. Echocardiography revealed frequent but insignificant mitral and tricuspid valvulopathies. Mitral valve prolapse was present in 3 patients (4.5%). Two patients exhibited significant aortic stenosis (3.0%). While none of the functional and histological parameters diverged significantly between the Abcc6(-/-) and WT mice groups at age of 6 and 12 months, the 24-month-old Abcc6(-/-) mice developed cardiac hypertrophy without contractile dysfunction.
conclusionsDespite sporadic cases, PXE does not appear to be associated with frequent cardiac complications. However, the development of cardiac hypertrophy in the 24-month-old Abcc6(-/-) mice suggests that old PXE patients might be prone to developing late cardiopathy.
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