Pediatric hypermobile EDS patients not at higher risk of aorta damage
Researchers decline to recommend echocardiographic screening
Children and adolescents with hypermobile Ehlers-Danlos syndrome (hEDS) may not have a higher risk of developing aortic dilation, a condition wherein a portion of the artery that carries blood from the heart to the body is enlarged.
That’s according to a study in the U.S. that compared the rates of aortic dilation between pediatric hEDS patients and the people in the general population of the same age. The condition was assessed with echocardiography, an ultrasound that evaluates the heart’s structure and function. The exam is commonly performed in hEDS patients after initial studies indicated they could be at higher risk for aortic dilation, but the study didn’t confirm this.
“We propose that in the absence of other [heart] findings or suspicion for another disorder, echocardiography is not required in hEDS,” the researchers wrote.
The study, “Longitudinal echocardiography in pediatric patients with hypermobile Ehlers-Danlos syndrome,” was published in the American Journal of Medical Genetics.
hEDS is the most common type of Ehlers-Danlos syndrome, a group of genetic diseases that affect connective tissue, which provide structure to several tissues and organs. Disease symptoms include joint hypermobility, where joints can move in a wider range of motion than what’s typically normal, and soft and fragile skin.
Some studies suggested hEDS patients may have a higher risk of aortic dilation, resulting in routine screening being recommended with echocardiography, which is an expensive test. Subsequent studies haven’t confirmed an increased risk, however.
“Although progressive aortic root dilation has been demonstrated in other connective tissue disorders, this has yet to be elucidated for hEDS,” the researchers wrote. Aortic root dilation refers to an enlargement of the aortic root, the first section of the aorta.
Assessing risk of aorta damage in hEDS
To clarify the prevalence of aortic dilation in hEDS patients, researchers retrospectively analyzed the medical records of 227 pediatric hEDS patients screened by echocardiogram at the Nationwide Children’s Hospital in Columbus, Ohio between 2010 and 2021. Most were female (62.1%) and white (95.5%), and their average age was 12.9 at the first echocardiogram and 14.6 at the most recent exam. A total of 68 patients had data from more than one echocardiogram.
The researchers looked at the aortic root size z-score, which represents the distance between a size value and the mean aortic root size of healthy people, adjusted for age. A z-score higher than 2 indicates mild aortic root dilation. It’s predicted that 2.3% of the population will have a z-score over 2.
Sixteen of 225 children and adolescents (7.1%) in whom the aortic root size was measured had a z-score above 2 at the first evaluation, suggesting mild aortic root dilation. Repeated exams in 10 of those with signs of aortic dilation showed a significant reduction in aortic root size z-scores, which reached reference levels (below 2) in seven.
At the final exams, nine of the 225 patients (4%) had a dilated aortic root, which isn’t statistically different from the expected 2.3% rate in the general population, the researchers noted.
The findings suggest that as children and adolescents with hEDS grow older, their aortic size tends to normalize.
“There is no evidence that even in the presence of an enlarged aorta that the dilation progresses over time or leads to a higher risk for aortic dissection [formation of a tear in the aorta wall],” the researchers wrote. “Moreover, the aortic dilation observed in this [group of patients] was mild … which supports the notion that any aortic dilation in this population is clinically insignificant.”
Evaluation of family history for the 100 patients with available data identified risk factors for aortic root dilation in one child, who had a history of a heart valve problem in the family. None of the other children with an aortic root z-score higher than 2 “had relatives with known aortic root disease,” the researchers wrote.
The data also don’t support an increased risk for aortic dilation in hEDS patients, leading the researchers to recommend that in the absence of other signs of heart disease, hEDS patients don’t need echocardiographic screening.
“A decrease in unnecessary screening would reduce the burden on clinicians, the healthcare system, and most importantly, would alleviate the anxiety felt in patients … with a chronic health condition,” they wrote.
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