ESPE Abstracts

The Loeys-Dietz syndrome (LDS) is a genetic heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We present a 16.5-year-old girl with LDS2 caused by a mutation c.1582C>T (p.R5228C) in the TGFBR2 gene and treated with recombinant growth hormone (rGH) due to coexisting growth hormone deficiency (GHD). The case analysis (observational study) presents the efficacy of rGH therapy and the safety aspects of this treatment, including aortal imaging follow-up (echocardiography; ECHO). To our knowledge, this is the first investigation of the effects of a long-term rGH treatment on aortic dimensions in LDS. LDS was recognized in the presented patient in the 2^nd year of life due to typical dysmorphic features. Since 3^rd year of life, growth deceleration was observed. Based on parental height, the target height was 154 cm. At age 6, the partial GHD was recognized (max GH after clonidine and glucagon was respectively 7.2 and 3.6 ng/ml; IGF-1 - 35 ng/ml; IGFBP-3 - 2851 ng/ml). At the age of 6.5, rGH was initiated (htSDS -2.4) and continued up to 14 years and 3 months (htSDS -1.4). The present height at the age of 16.5 is 155 cm. The dose of rGH was adjusted during treatment according to the clinical response and laboratory data and was between 0.025-0.028 mg/kg/day. The IGF-1 and IGFBP-3 levels were kept within the normal range. Since the age of 16 months, the widening of the aortic root was observed on ECHO. With time the aortic root diameter increased. At 16, due to a markedly dilated aortic root (Z-score +5.95), the girl underwent a plastic operation of the aorta with a satisfactory outcome. The patient's current status is stable, but management in a patient with LDS requires multidisciplinary cooperation due to many coexisting comorbidities.