Echocardiographic findings and clinical spectrum of pediatric Marfan syndrome

INTRODUCTION: Marfan syndrome is more than a genetic diagnosis; it poses a significant cardiovascular risk, with critical structures such as the aortic root potentially affected before clinical symptoms appear. This study evaluated the echocardiographic profiles and characteristic clinical features of genetically confirmed pediatric Marfan syndrome patients in a tertiary center.
METHODS: Pediatric patients with confirmed Marfan syndrome who underwent transthoracic echocardiography between October 2018 and May 2025 were retrospectively reviewed. Aortic dimensions and valvular pathologies were assessed according to American Society of Echocardiography criteria. Clinical data, family history, and anthropometric features were also documented.
RESULTS: Ten patients (8 females, 2 males; mean age 12.4±5.6 years) were included. Aortic root dilatation was observed in two patients, mitral valve prolapse in nine patients, and mitral regurgitation in six patients based on their most recent outpatient follow-up evaluations. Four patients received medical therapy; however, treatment adherence was inconsistent and outcomes varied. Most patients exhibited tall stature and had a positive family history. No cardiovascular surgeries were performed during the follow-up period.
DISCUSSION AND CONCLUSION: In pediatric Marfan syndrome, severe cardiovascular complications may remain clinically silent until advanced stages. Our findings indicate that even in genetically confirmed cases, early echocardiographic evaluation frequently detects valvular abnormalities and aortic involvement before clinical deterioration. These results underscore the critical importance of early diagnosis and regular echocardiographic surveillance to optimize follow-up and prevent delayed recognition of potentially fatal complications.

Keywords: Aortic root dilatation, Marfan syndrome, pediatric cardiology.