Cardiovascular abnormalities were identified in 30.7% of a pediatric NF1 cohort, including congenital heart disease, vasculopathy, hypertension, and hypertrophic cardiomyopathy, with no significant association with NF1 diagnostic or demographic parameters, supporting universal cardiac surveillance from childhood.
Cardiac abnormalities were identified in 30.7% of pediatric NF1 cases on initial evaluation after excluding isolated patent foramen ovale.
Valvular abnormalities were the most common type of cardiac finding on initial evaluation, followed by septal, myocardial, vascular, and pulmonary abnormalities.
The proportion of cases with detected cardiac abnormalities increased substantially on repeat echocardiographic assessments.
Holter ECG and cardiac MRI identified additional abnormalities beyond standard echocardiography in selected cases.
Eleven cases required antihypertensive treatment and four required surgical or interventional cardiac management.
Final echocardiographic abnormalities showed no significant association with NF1 diagnostic or demographic parameters.
This research suggests that heart problems are much more common in children with neurofibromatosis type 1 (NF1) than might be expected. In a group of 114 children with NF1 seen at a single specialized center, nearly one in three (30.7%) had some type of cardiac abnormality detected on their first heart scan. The most common problems involved the heart valves, but researchers also found issues with the walls separating heart chambers, the heart muscle itself, and the major blood vessels. Importantly, the rate of detected abnormalities grew even higher when children had repeat heart scans over time — rising to 58% and 67% at second and third evaluations, respectively — suggesting that some heart problems develop or become detectable only later in childhood. The study also found that four children required significant cardiac interventions, including valve replacement surgery and procedures to address dangerously narrowed arteries causing high blood pressure. Eleven children needed medication to control their blood pressure. Notably, no specific NF1 features — such as the number of skin spots or other characteristic findings — could predict which children would develop heart problems. This means that doctors cannot use a child's other NF1 symptoms to decide whether cardiac monitoring is needed; all children with NF1 appear to be at risk. This research suggests that all children diagnosed with NF1 should receive regular heart screening starting in childhood, regardless of their other symptoms. Because cardiac abnormalities in NF1 can range from minor valve differences to serious conditions requiring surgery, and because problems may only become apparent over time, ongoing surveillance rather than one-time evaluation appears important for catching and managing these complications early.
Öz Yıldız S, İmanlı M, Aykan H, Ertuğrul &, Yalnızoğlu D, Haliloğlu G. (2026). Cardiac involvement in neurofibromatosis type 1: real-world baseline and follow-up findings from a tertiary single-center cohort.. European journal of pediatrics. https://doi.org/10.1007/s00431-026-07417-0