TOPLINE

Children with genetically confirmed steroid sulfatase-related syndromic epidermal differentiation disorder (STS-sEDD), also known as X-linked ichthyosis, did not have clinically significant arrhythmias or new structural heart disease. The extent of the genetic deletion was not associated with cardiac findings.

METHODOLOGY

• Researchers conducted a prospective observational study at a Spanish hospital to describe findings related to cardiac structure and rhythm in children with STS-sEDD. 
• They included 14 patients with confirmed STS-sEDD (all boys; mean age, 9 years; range, 2-16 years) evaluated between January 2023 and July 2025.
• Assessments included clinical history review, physical examination, echocardiography, and 12-lead ECG; some patients underwent 5-day ambulatory single-lead ECG monitoring and symptom-limited exercise testing.
• Genetic testing was used to identify deletions or variants affecting STS and neighboring genes.

TAKEAWAY

• Nine patients (64%) were asymptomatic, while five (36%) reported having mild, nonspecific symptoms such as postural dizziness, occasional dizziness, or exercise-related chest pain; no symptoms were associated with a clinically relevant cardiac abnormality.
• Minor ECG variations in 11 patients (79%) were classified as age-related physiologic variants. No clinically significant arrhythmia was detected during 5-day monitoring, and exercise testing recorded one isolated premature ventricular contraction that was not clinically significant.
• Echocardiography showed structurally normal hearts, with the exception of one boy with previously diagnosed, hemodynamically compensated partial anomalous pulmonary venous return.
• The researchers observed no apparent association between the extent of gene deletion or involvement of neighboring genes and structural heart disease, clinically significant arrhythmias, or other abnormal cardiac findings.

IN PRACTICE

"The data do not support intensive universal cardiac surveillance solely because of STS-sEDD in asymptomatic children; however, the study is too small to exclude uncommon events," the authors wrote.

SOURCE

The study was led by Katia Henostroza Inga, Hospital Sant Joan de Déu Barcelona, and Andrea Greco, Institut de Recerca Sant Joan de Déu, both in Barcelona, Spain. It was published online on October 9, 2026, in the European Journal of Pediatrics.

LIMITATIONS

A small sample size limited the ability to detect rare findings or links between genetic changes and heart findings. Some eligible children were not evaluated, possibly introducing selection bias. The absence of arrhythmias at the time of assessment may not rule out the development of arrhythmias later in life.

DISCLOSURES

The study was supported by Fundació Bosch i Aymerich and Fundació Privada Daniel Bravo Andreu. One author reported receiving support from the Department de Salut de la Generalitat de Catalunya. The authors reported having no competing interests.

This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.