Objectives The diagnosis of cardiovascular involvement in ankylosing spondylitis (AS) is usually delayed since conventional echocardiography relies mainly on the morphological alterations. The aim of this study was to evaluate the role of echocardiographic methods such as tissue Doppler and strain imaging of left ventricle (LV) and proximal aorta; and concentrations of biomarkers of cardiac fibrosis such as galectin-3 (Gal-3) and soluble suppression-of-tumorogenicity-2 (sST2) in determining early cardiovascular impairment in AS. Design In this prospective study of 75 AS and 30 healthy subjects (mean age 41.7 ±10.1 years; 37.3% female), we determined layer-specific strain and strain rates in longitudinal, circumferential and radial axes for LV as well as transverse and longitudinal strains of proximal aorta; central pulse wave velocity(cPWV); plasma high sensitivity C-reactive protein(hsCRP), Gal-3 and sST2 levels. Results Patients with AS had increased levels of hsCRP and sST2 when compared to healthy controls. cPWV, E and e' velocities; longitudinal strain and strain rates at all myocardial layers; and transverse strains of both anterior and posterior aortic walls were reduced in AS patients. Gal-3 levels with strain and strain rates at circumferential and radial axes were similar between the groups. Among all echocardiographic and clinical parameters, AS was independently associated with LV dysfunction (expressed by longitudinal strain of LV) and aortic impairment (expressed by transverse strain of anterior wall). Conclusions This study demonstrates that functional impairment in AS occurs early in the disease course and strain imaging is an effective tool in discriminating involvement. sST2 may represent the link between inflammation and fibrosis in AS.

Novel imaging modalities in detection of cardiovascular involvement in ankylosing spondylitis

Background: Pseudoxanthoma elasticum (PXE) is a rare hereditary disease caused by mutations in the ABCC6 gene, characterized by ectopic calcification of connective tissue throughout the body. Vascular conditions associated with PXE have been well-documented in the literature, but to our knowledge, analysis of the myriad of PXE case reports with associated vascular diseases in addition to larger cohort studies, has not been undertaken. 
Objective: To review existing literature reporting peripheral vascular disease (PVD), cardiovascular disease (CVD), cerebrovascular disease (CeVD), hypertension, and carotid rete mirabile (CRM) in PXE patients as of June 2021. 
Methods: A search of the PubMed database using the key words “pseudoxanthoma elasticum” and “vascular” was performed. 
Results: A total of 345 cases of PVD, 97 cases of CVD, and 123 case of CeVD were reported.  Additionally, 88 cases of hypertension and 5 cases of CRM were reported. 
Conclusions: PXE patients are at risk of developing serious vascular conditions, particularly peripheral vascular disease.  This condition also appears to have some connection to carotid rete mirabile, which is extremely rare in humans.  Further research should be conducted to analyze the connection between PXE and CRM in order to better understand and treat both conditions.

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Vascular Effects of Pseudoxanthoma Elasticum

Effect of the internal carotid artery degree of stenosis on wall and plaque distensibility

Pseudoxanthoma elasticum

Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). All participants underwent an angiological examination including ankle-brachial index (ABI) and were examined with speckle-tracking based vascular strain analysis of common carotid arteries, measuring radial displacement (r.Dis), radial velocity (r.Vel), radial strain (r.Str), circumferential strain (c.Str), radial strainrate (r.SR) and circumferential strainrate (c.SR). We found significant lower ABI in patients with PXE compared to all other groups (each p < 0.01). The vascular strain analysis resulted in significantly decreased values in the PAD group compared to PXE with PAD (each p ≤ 0.01) and controls without PAD (each p ≤ 0.05), whereas no significant difference could be found between PXE+PAD and controls without PAD. We found significant negative correlations between low strain values and a higher prevalence of PAD in non-PXE patients (r.Str r = -0.34; c.Str r = -0.35; r.SR: r = -0.51; c.SR: r = -0.53). In conclusion, PXE patients had similar values for arterial stiffness compared to controls without PAD in vascular strain analysis. In this group, arterial stiffness parameters were significantly higher compared to non-PXE PAD patients. It is worth to discuss whether PAD-like manifestations in PXE are a different kind of disease and might need another strategy in diagnostics and therapy.

Viviane Küllmar

Papers

Carotid strain measurement in patients with pseudoxanthoma elasticum - Hint for a different pathomechanism?