Severely Calcified Valvular Aortic Stenosis Firstly Diagnosed in Monozygotic Male Twins With Suspected Williams-Beuren Syndrome

Yetkin, Ufuk; Bal, Filiz; Bayata, Serdar; Gürbüz, Ali

doi:10.1536/jhj.45.877

Cited by 3 publications

(3 citation statements)

References 10 publications

(6 reference statements)

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“…Our patient was negative for both ENPP1 and ABCC6 loss-of-function mutations seen in idiopathic infantile arterial calcification. Severely calcified aortic valve stenosis has been noted in Williams–Beuren syndrome 10 . Our patient was negative for this as well.…”

Section: Discussionsupporting

confidence: 61%

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Intra-arterial calcifications in the recipient twin in twin-to-twin transfusion syndrome

2016

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Pulmonary artery, and rarely aortic, calcifications have been reported in sporadic case reports in the recipient twin of twin-to-twin transfusion syndrome. This presentation is more likely to be secondary to the haemodynamic alterations in the recipient twin, but must be differentiated from idiopathic infantile arterial calcification as the clinical implications, treatment, and prognosis may be drastically different.

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Section: Discussionsupporting

confidence: 61%

“…Severely calcified aortic valve stenosis has been noted in Williams-Beuren syndrome. 10 Our patient was negative for this as well. His clinical picture was more consistent with previously reported recipient twins in twin-to-twin transfusion syndrome with arterial calcifications.…”

Section: Discussionmentioning

confidence: 58%

Intra-arterial calcifications in the recipient twin in twin-to-twin transfusion syndrome

2016

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“…In fact, severe calcification at the aortic valves is often observed in patients with SVAS and Williams syndrome, both of which are characterized by a quantitative reduction of elastin synthesis (Yetkin et al . ; Ferlan et al . ).…”

Section: Discussionmentioning

confidence: 99%

MiR‐29‐mediated elastin down‐regulation contributes to inorganic phosphorus‐induced osteoblastic differentiation in vascular smooth muscle cells

et al. 2015

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Vascular calcification increases the risk of cardiovascular mortality. We previously reported that expression of elastin decreases with progression of inorganic phosphorus (Pi)-induced vascular smooth muscle cell (VSMC) calcification. However, the regulatory mechanisms of elastin mRNA expression during vascular calcification remain unclear. MicroRNA-29 family members (miR-29a, b and c) are reported to mediate elastin mRNA expression. Therefore, we aimed to determine the effect of miR-29 on elastin expression and Pi-induced vascular calcification. Calcification of human VSMCs was induced by Pi and evaluated measuring calcium deposition. Pi stimulation promoted Ca deposition and suppressed elastin expression in VSMCs. Knockdown of elastin expression by shRNA also promoted Pi-induced VSMC calcification. Elastin pre-mRNA measurements indicated that Pi stimulation suppressed elastin expression without changing transcriptional activity. Conversely, Pi stimulation increased miR-29a and miR-29b expression. Inhibition of miR-29 recovered elastin expression and suppressed calcification in Pi-treated VSMCs. Furthermore, over-expression of miR-29b promoted Pi-induced VSMC calcification. RT-qPCR analysis showed knockdown of elastin expression in VSMCs induced expression of osteoblast-related genes, similar to Pi stimulation, and recovery of elastin expression by miR-29 inhibition reduced their expression. Our study shows that miR-29-mediated suppression of elastin expression in VSMCs plays a pivotal role in osteoblastic differentiation leading to vascular calcification.

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Genpolymorphismus bei der verkalkten Aortenklappenstenose

Anger

Ekici

Daniel

et al. 2006

Herz

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In the Caucasian world calcified and stenosed aortic valves are a common disease. Due to increasing life expectancy prevalence of aortic valve disease will increase dramatically. In order to establish alternative therapeutic approaches to valve replacement, we have to get a better understanding of the pathophysiological process and genetic determinations leading to calcified and stenotic valve disease. Exploring these genetic determinations will open new specific fields of therapeutic modulations of the disease process. In the literature, different gene polymorphisms have been characterized to develop calcifications and further stenosis of the aortic valves.Here, congestive polyvalent aortic valve abnormalities without specific genetic determinations (i. e., DiGeorge syndrome or fragile x syndrome), autosomal inherited alterations leading to congestive aortic valve disease (i. e., Williams-Beuren syndrome, Gaucher's disease, tetralogy of Fallot, genetic aberrations of chromosomes 2 and 4 as well as trisomy 18), X- and Y-chromosomal specific alterations (i. e., Turner syndrome), congestive structure-based aortic valve disease (i. e., bicuspid aortic valve with regard to hand-heart syndromes, tetracuspid aortic valve associated with DiGeorge syndrome) and genetic mutations of specific target genes (i. e., epidermal growth factor receptor, NOTCH-1, elastin, angiotensin I conversion enzyme, beta-glucocerebrosidase, interleukin-10, chemokine receptor 5, connective tissue growth factor, transforming growth factor beta1, vitamin D receptor, estrogen receptor-alpha, apolipoproteins A1, B, and E) are summarized. The roles of gene polymorphism in the development of calcified and stenosed aortic valve appear slowly in the understanding of the process leading to the valve disease and are mainly based on studies of supravalvular and bicuspid aortic valve stenoses. New molecular biological methods enabling broad gene expression analyses demonstrate the similarity in the pathophysiology of atherosclerotic vessel inflammation, bone formation/fibrosis, with the processes leading to stenosed and calcified aortic valves. Based on to-date knowledge, further analyses have to be done and will improve understanding of the pathophysiological processes with regard to the development of new therapeutic drug targets.

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Severely Calcified Valvular Aortic Stenosis Firstly Diagnosed in Monozygotic Male Twins With Suspected Williams-Beuren Syndrome

Cited by 3 publications

References 10 publications

Intra-arterial calcifications in the recipient twin in twin-to-twin transfusion syndrome

Intra-arterial calcifications in the recipient twin in twin-to-twin transfusion syndrome

MiR‐29‐mediated elastin down‐regulation contributes to inorganic phosphorus‐induced osteoblastic differentiation in vascular smooth muscle cells

Genpolymorphismus bei der verkalkten Aortenklappenstenose

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