Aortopathy in Turner syndrome is associated with aortic dilation, and the risk of dissection is increased when the aortic size index is ≥ 2–2.5 cm/m2. We evaluated the aortic biophysical properties in paediatric Turner syndrome using cardiac MRI to determine their relationship to aortic size index.

Turner syndrome patients underwent cardiac MRI to evaluate ventricular function, aortic dimensions, and biophysical properties (aortic stiffness index, compliance, distensibility, pulse wave velocity, and aortic and left ventricular elastance). Spearman correlation examined correlations between these properties and aortic size index. Data was compared to 10 controls.

Of 25 Turner syndrome patients, median age 14.7 years (interquartile range: 11.0–16.8), height z score −2.7 (interquartile range: −2.92 – −1.54), 24% had a bicuspid aortic valve. Turner syndrome had increased diastolic blood pressure (p < 0.001) and decreased left ventricular end-diastolic (p < 0.001) and end-systolic (p = 0.002) volumes compared to controls. Median aortic size index was 1.81 cm/m2 (interquartile range: 1.45–2.1) and 7 had an aortic size index > 2 cm/m2. Aortic and left ventricular elastance were greater in Turner syndrome compared to controls (both p < 0.001). Increased aortic size index correlated with increased aortic elastance (r = 0.5, p = 0.01) and left ventricular elastance (r = 0.59, p = 0.002) but not aortic compliance. Higher ascending aortic areas were associated with increased aortic compliance (r = 0.44, p = 0.03) and left ventricular elastance (r = 0.49, p = 0.01).

Paediatric Turner syndrome with similar aortic size index to controls showed MRI evidence of abnormal aortic biophysical properties. These findings point to an underlying aortopathy and provide additional parameters that may aid in determining risk factors for aortic dissection.

Prior to the recent release of appropriate use criteria for imaging valvulopathies in children, follow-up of valvular lesions, including isolated bicuspid aortic valve, was not standardised. We describe current follow up, treatment, and intervention strategies for isolated bicuspid aortic valve with varying degrees of stenosis, regurgitation, and dilation in children up to 18 years old and compare them with newly released appropriate use criteria.

Online survey was sent to members of the American Academy of Pediatrics Section on Cardiology and Cardiac Surgery and PediHeartNet.

Totally, 106 responses with interpretable data were received. For asymptomatic patients with isolated BAV without stenosis, regurgitation, or dilation follow-up-intervals increased from 7+/−4 months in the newborn period to 28 +/− 14 months at 18 years of age. Respondents recommended more frequent follow-up for younger patients and those with greater disease severity. More than 80% of respondents treat aortic regurgitation or aortic dilation in the setting of bicuspid aortic valve medically. In general, intervention was recommended once stenosis or regurgitation became severe (stenosis of >4 m/s; regurgitation with LV Z score 4) regardless of age, but was not routinely recommended for younger children (newborn – age 6 years) with severe dilation. Exercise was restricted at 38+/−11 mmHg echocardiographic mean gradient.

Current follow-up, treatment, and intervention strategies for isolated bicuspid aortic valve deviate from appropriate use criteria. Differences between the two highlight the need to better delineate the disease course, clarify recommendations for care, and encourage wider adoption of guidelines.

To determine whether racial/ethnic differences exist for the treatment of Marfan syndrome aortopathy. The 2014 Pediatric Heart Network randomised trial of losartan versus atenolol in Marfan syndrome paediatric and young adult patients showed no treatment differences in the rate of aortic root growth over 3 years; however, they did not examine racial/ethnic differences, and recent data suggest that angiotensin receptor blockers may have different pharmacologic effects in different racial/ethnic populations.

We performed a secondary analysis of public-use data from the Pediatric Heart Network randomised trial comparing the differences by race/ethnicity (non-Hispanic White, non-Hispanic Black, and Hispanic patients) amongst the treatment groups for the primary outcome of rate of aortic root enlargement by z score and secondary outcome of rate of change of absolute diameter of aortic root, z score and absolute diameter of ascending aorta, and blood pressure changes.

For aortic root enlargement by z score amongst non-Hispanic White patients, patients on losartan exhibited an annual z score change of –0.090 ± 0.016, compared to –0.146 ± 0.015 for those on atenolol (p = 0.01), favouring atenolol. For Hispanic and non-Hispanic Black patients, there was no difference in primary or secondary outcomes between treatment groups.

Non-Hispanic White patients had a small, but statistically significantly greater decrease in aortic root z score favouring atenolol over losartan. There were no significant differences amongst Hispanic or non-Hispanic Black patients, which may be due to relatively small size numbers. These findings may have important implications for medication selection by race/ethnicity in Marfan syndrome patients, which has not previously been evaluated in studies.

Although magnetic resonance imaging is a primary modality for following patients with connective tissue diseases, only a limited amount of the image data is utilised. The purpose of this study was to show the clinical applicability of an automated four-dimensional analysis method of magnetic resonance images of the aorta and develop normative data for the cross-sectional area of the entire thoracic aorta.

Magnetic resonance imaging was obtained serially over 3 years from 32 healthy individuals and 24 patients with aortopathy and a personal or family history of connective tissue disorder. Graph theory-based segmentation was used to determine the cross-sectional area for the thoracic aorta. Healthy individual data were used to construct a nomogram representing the maximum cross-sectional area 5th–95th percentile along the entire thoracic aorta. Aortic root diameters calculated from the cross-sectional area were compared to measured diameters from echocardiographic data. The cross-sectional area of the entire thoracic aorta in patients was compared to healthy individuals.

Calculated aortic root diameters correlated with measured diameters from echo data – correlation coefficient was 0.74–0.87. The cross-sectional area in patients was significantly greater in the aortic root, ascending aorta, and descending aorta compared to healthy individuals.

The presentation of the dimensional data for the entire thoracic aorta shows an important clinical tool for following patients with connective tissue disorders and aortopathy.