Abstract
Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). However, the long-term implications of isolated ARD in 22q11.2DS remain undefined. In this study, we measured aortic root size and estimated the probability of changing between normal aortic root size and ARD during follow up to understand the prevalence, longitudinal course, and clinical risk factors for ARD in patients with 22q11.2DS without intracardiac CHDs. Aortic root size was measured in 251 patients with 432 studies. Forty-one patients (16.3%) had ARD on at least one echocardiogram and the cohort sinus Z-score was increased on the last echocardiogram [mean (1.09, SD 1.24) and median (1.20, min − 1.90 and max 5.40)]. Transition probability analysis showed that 8.1% of patients developed ARD and 45.4% of patients with ARD reverted to normal at the next echocardiogram. The risk of ARD over time was significantly associated with male sex (OR 3.06, 95% CI 1.41–6.65; p = 0.004), but not with age or presence of an aortic arch anomaly. Compared to a sinus Z-score ≥ 2, initial Z-score < 2 was associated with 14.3 times lower risk of developing sinus Z-score ≥ 3 at follow up. Sinus Z-score overall decreased by age, and males had a higher Z-score than females (ß = 0.72, SE = 0.14, p < 0.001). Though only a few patients had a Z-score > 4, and patients with initial Z-scores < 2 seem unlikely to develop clinically significant disease, screening practices remain incompletely defined such that periodic evaluation appears warranted.
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246_2021_2645_MOESM2_ESM.pdf
Supplementary file2 Distribution of Sinus Z-Score at last echocardiogram among subjects with 2+ echocardiograms. Red represents Z-scores ≥ 2.5 (PDF 45 kb)
246_2021_2645_MOESM3_ESM.pdf
Supplementary file3 The change in Z-score by age at the level of the annulus, sinus and sinotubular junction among subjects with 2+ echocardiograms (a) The change in annulus Z-score by age. Predicted Annulus Z-score= 0.24 - 0.08*log(age) - 0.07*age(-0.5)+ 0.52*male - 0.04*AAA (b) The change in sinus Z-score by age. Predicted Sinus Z-score= -0.05 - 0.17*sqrt(age) - 0.05*age(-0.5)+ 1.06*male + 0.71*AAA (c) The change in sinotubular junction Z-score by age. Predicted STJ Z-score= 0.08 - 0.16*sqrt(age) - 0.04*age(-0.5)+ 0.60*male - 0.001*AAA. The graph describes aortic size between 2-18 years old given the 5-95 percentile of BSA from the nationally representative height and weight data in 2000 CDC growth chart. Mixed-effects model with fractional polynomial was used after adjusting for sex and AAA (PDF 113 kb)
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de Rinaldis, C.P., Butensky, A., Patel, S. et al. Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies. Pediatr Cardiol 42, 1594–1600 (2021). https://doi.org/10.1007/s00246-021-02645-7
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DOI: https://doi.org/10.1007/s00246-021-02645-7