Mitral Annular Disjunction and Its Progression during Childhood in Marfan Syndrome.

BACKGROUND: Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse. OBJECTIVES: To investigate the diagnostic yield of MAD by echocardiography and cardiac magnetic resonance imaging (CMR), its prevalence and progression during childhood. METHODS: We included patients <21 years old with MFS, defined by 2010 Ghent criteria and a pathogenic FBN1 variant or ectopia lentis. Two readers measured systolic separation between the mitral valve (MV) posterior hinge point and left ventricular (LV) myocardium on initial and subsequent imaging. MAD was defined as MV-LV separation ≥2 mm, MV prolapse (MVP) as atrial displacement ≥2 mm. Kappa coefficients evaluated echocardiogram-CMR agreement. Bland-Altman and intraclass correlation coefficients (ICC) assessed interrater and intermodality reliability. Univariable mixed-effects linear regression was used to evaluate longitudinal changes of MAD. RESULTS: MAD was detected in 60% (110/185) eligible patients. MVP was present in 48% (53/110) of MAD and MAD in 90% (53/59) of MVP. MAD detection by CMR and echocardiography had 96% overall agreement (Kappa = 0.89, p < 0.001) and a 0.32-mm estimate bias (95%CI 0.00, 0.65). ICC by echocardiography, CMR, and between modalities were 0.97 (95%CI 0.93, 0.98), 0.92 (95%CI 0.79, 0.97), and 0.91 (95%CI 0.85, 0.94), respectively. MAD was associated with aortic root dilation (p < 0.001). MAD was found in children of all ages, increased +0.18 mm/year (95%CI +0.14, + 0.22) during a median duration of 5.5 years (IQR 3.1, 7.5 years). MAD indexed by height yielded a constant value +0.0002 mm/m/year (95%CI -0.0002, + 0.0005 mm/m/year). CONCLUSIONS: MAD was common in pediatric MFS and was associated with aortic root dilation. MAD detection by echocardiography and CMR was highly reliable, suggesting that routine assessment in MFS is feasible. MAD was present in neonates and progressed over time but remained constant when indexing by height. Further studies are needed to evaluate MAD as a biomarker for clinical outcomes in pediatric MFS.

C-reactive protein (CRP) polymorphisms and haplotypes are associated with SLE susceptibility and activity but not with serum CRP levels in Mexican population.

To evaluate the association of C-reactive protein (CRP) polymorphisms with risk of development SLE in a group of Mexican individuals. Five CRP polymorphisms (rs3093059, rs3093062, rs1800947, rs1130864, and rs1205) were determined by PCR-restriction fragment length polymorphism and SNP rs3093061 by refractory mutation system PCR assay in 126 SLE patients and 131 controls. Four of the polymorphisms showed differences between patients and controls. rs3093061 polymorphism was associated with a lower risk of developing lupus principally in the codominant 2 (OR = 0.219, 95% CI 0.108-0.785, P = 0.015) model. rs1130864 was associated with decreased risk mainly under codominant 1 (OR = 0.288, 95% CI 0.143-0.581, P = 0.001) model. rs1205 was associated under the over-dominant model (OR = 0.504, 95% CI 0.270-0.942, P = 0.032). The rs3091244 polymorphism was associated with decreased risk of SLE mostly under additive (OR = 0.605, 95% CI 0.393-0.931. P = 0.022) model. Our study establishes that rs3093061, rs1130864, rs1205, and rs3091244 polymorphisms are associated with decreased risk of developing SLE.

Coexistance of Amyloidosis and Primary Sjögren's Syndrome: An Overview.

BACKGROUND: The association of primary Sjogren´s Syndrome (SS) and amyloidosis has been recognized but scarcely assessed. OBJECTIVE: Herein we analyzed the literature regarding this association in order to describe a SS phenotype prone to both conditions. METHODS: PubMed and CINAHL databases were searched from inception until April 2016 for the keywords: Amyloidosis, amyloid, Sjögren's syndrome and their combinations. RESULTS: Most of the cases corresponded to localized amyloidosis mainly at skin and lung, whereas only three cases were systemic. Other places of localized amyloidosis were the kidney, tracheobronchial, tongue, breast, salivary gland and vocal cord. Most of the localized forms corresponded to AL type, whereas AA amyloidosis was uncommon. The diagnosis of amyloidosis followed the SS onset (1-25 years) and in the majority of patients the presence of B cell hyperactivity traduced by hypergammaglobulinemia, positive rheumatoid factor and/or anti-Ro/SSA and anti-La/SSB antibodies were observed. In seven patients, an associated lymphoma was also documented. CONCLUSION: The spectrum of lymphoid proliferation associated with SS extends beyond the classical B cell lymphoma. Localized or systemic amyloidosis might coexist with primary SS. Localized amyloidosis should be suspected in patients with consistently high serologic activity and suggestive lesions.