Adolescents with bicuspid aortic valve: Which criteria should we use for aortic dilatation?

BACKGROUND: Criteria to define aortic dilatation in bicuspid aortic valve (BAV) patients are different for children and adults. The objective of this study was to find the best reference tool to define dilation of the aortic root (AR) and the ascending aorta (AA) in BAV adolescents with an adult body surface area (BSA). METHODS: Patients recruited were ≥10-years-old with a BSA ≥1.5 m2. Three measurements of the AR and AA were compared: z-score, the BSA-indexed value (BSA-IV) and the absolute value (AV), with thresholds in +2/+3, 21 mm/m2 and 40 mm, respectively. RESULTS: 231 subjects were collected from the Pediatric REVAB database, with a median age and BSA of 14-year-old and 1.67 m2. Significant differences were reported in the AA: 109 (47%) patients had a z-score ≥2 and 67 (29%) a Z ≥ 3, but only 9 (3%) a BSA-IV ≥21 mm/m2 (p < 0.01 and p < 0.01) and 2 (0.9%) an AV ≥40 mm (p = 0.22 and p = 0.08). CONCLUSION: Our results indicate that in the AA there are a significant number of patients in which it would be recommendable changing to BSA-IV when children are older than 10-year-old and BSA ≥1.5 m2. Regarding the AR, criteria for dilatation seems not to be influenced by the reference chosen.

Influence of MUC5B gene on antisynthetase syndrome.

MUC5B rs35705950 (G/T) is strongly associated with idiopathic pulmonary fibrosis (IPF) and also contributes to the risk of interstitial lung disease (ILD) in rheumatoid arthritis (RA-ILD) and chronic hypersensitivity pneumonitis (CHP). Due to this, we evaluated the implication of MUC5B rs35705950 in antisynthetase syndrome (ASSD), a pathology characterised by a high ILD incidence. 160 patients with ASSD (142 with ILD associated with ASSD [ASSD-ILD+]), 232 with ILD unrelated to ASSD (comprising 161 IPF, 27 RA-ILD and 44 CHP) and 534 healthy controls were genotyped. MUC5B rs35705950 frequency did not significantly differ between ASSD-ILD+ patients and healthy controls nor when ASSD patients were stratified according to the presence/absence of anti Jo-1 antibodies or ILD. No significant differences in MUC5B rs35705950 were also observed in ASSD-ILD+ patients with a usual interstitial pneumonia (UIP) pattern when compared to those with a non-UIP pattern. However, a statistically significant decrease of MUC5B rs35705950 GT, TT and T frequencies in ASSD-ILD+ patients compared to patients with ILD unrelated to ASSD was observed. In summary, our study does not support a role of MUC5B rs35705950 in ASSD. It also indicates that there are genetic differences between ILD associated with and that unrelated to ASSD.