Marfan syndrome and cardiovascular findings in children

This study aimed to retrospectively analyze the demographic data, presenting complaints, physical examination, echocardiographic and radiologic findings, treatments, and clinical course of 12 patients who were admitted to the Department of Pediatric Cardiology and diagnosed with Marfan syndrome (MS) according to the Ghent criteria between January 2017 and July 2023, in order to determine the importance of structural heart disease, accompanying findings, and duration of illness from diagnosis. In total, 9 of the 12 patients were male, 3 were female, and their ages ranged between 18 months and 17 years (10.6 ± 5.1 years). The median duration of illness from diagnosis was 36 months (12-120 months) in all patients. When cardiovascular findings were analyzed, 6 (50%) of the patients had aortic root dilatation. All of these patients had aortic root dilation accompanied by mitral valve prolapse and mitral regurgitation (MR). Three of them also had tricuspid valve prolapse and moderate tricuspid regurgitation. Three other patients had mitral valve prolapse and mild MR, and 1 patient had only aortic regurgitation. This is due to aortic valve leaflet prolapse or elongation resulting from intrinsic connective tissue weakness, which disrupts diastolic coaptation. Echocardiographic examination was normal in 2 patients. Among the patients with severe aortic root dilation and severe MR, 2 patients underwent valve-sparing aortic root replacement surgery, and surgery was decided for the other patient. A total of 4 patients with severe aortic root dilation, including these 3, were clinically monitored with angiotensin receptor blockers, beta-blockers, and angiotensin-converting enzyme inhibitors. Patients with MS have significant structural heart disease. Since the incidence of skeletal system and ocular findings increases, especially in patients with aortic root dilatation, regular multidisciplinary follow-up of the patients in related specialties is extremely important.