New Screening Tool for Aortic Root Dilation in Children with Marfan Syndrome and Marfan-Like Disorders

Abstract

One of the roles of a pediatric cardiologist who suspects or diagnoses a genetically determined connective tissue disease (e.g., Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes) is to assess whether the aortic root is dilated. The aortic root diameter is affected by the patient's age, sex, and body surface area. Therefore, the aortic root diameter needs to be determined and expressed as a z-score. Calculation of the z-score is time-consuming and problematic if used infrequently. This study aimed to introduce a simple screening method for identifying aortic root dilation in children. The study population consisted of 190 children who were diagnosed with Marfan syndrome or Marfan-like disorders. The aortic root ratio (ARr) was formulated. The value of the ARr was compared in each patient with the results in z-scores, which were obtained using on-line calculators based on the most widespread nomograms. The optimal cut-off value of the ARr was ≥ 18.7. At this cutoff point, the sensitivity of the ARr ranged from 88.3% to 100% and the specificity ranged from 94% to 97.8%. All of the patients in whom the ARr failed to identify aortic root dilation were also divergently classified by different nomograms. At the ARr cut-off point of ≥ 18.0, a sensitivity of 100% was achieved for all nomograms with minimal reduction in specificity. The ARr allows for rapid and precise screening for aortic root dilation in children. Unlike classic analysis, the ARr does not require nomograms or on-line calculations. Abbreviations ARrAortic root ratio EDS Ehlers-Danlos syndrome MFS Marfan syndrome NPV Negative predictive value PPV Positive predictive value ROC curve Receiver operating characteristic curve

Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations

“…Recently, a new screening tool was reported, but only for relatively tall patients with connective tissue disease (e.g. Marfan) (Wozniak‐Mielczarek et al, 2020 ). A tool for patients with TS and short stature has not yet been reported.…”

Is there a new method for determining aortic root dilatation in children?

“…Especially, this is why thin or obese patients may be mistakenly classified if z-score formulas including body surface area are applied. A recent study showed that the aortic root ratio, which is a simple ratio of the aortic root diameter to a patient's height, does not require access to any nomograms or online zscore calculators [3]. This tool allows for rapid and precise assessment of whether the aortic root is dilated.…”