ESPE Abstracts (2022) 95 P1-419

ESPE2022 Poster Category 1 Bone, Growth Plate and Mineral Metabolism (46 abstracts)

Early-Stage Radiological Markers of Endothelial Dysfunction and Cardiovascular Findings in Patients with Osteogenesis Imperfecta and Their Genotype-Phenotype Correlations: A Case-Control Study

Ferda Evin 1 , Derya Aydin 1 , Samim Özen 1 , Şükran Darcan 1 , Hüseyin Onay 2 , Damla Gökşen 1 & Ertürk Levent 1


1Ege University, Izmir, Turkey; 2Multigen Genetic Diseases Diagnosis Center, Izmir, Turkey

Introduction: Osteogenesis imperfecta (OI) is a disease related to collagen synthesis or fuctions. Collagen is found in many areas of the cardiovascular system. Endotelial dysfunction can be detected at an early stage before the symptoms become evident by non-invasive radiologic methods such as flow-mediated dilatation (FMD), carotid intima-media thickness (CIMT), and ventricular functions measurements, which may serve as indicators of endothelial dysfunction. This study aimed to compare early-stage radiological markers of endothelial dysfunction and cardiovascular diseases and to assess the correlations of these parameters with genotype.

Results: Thirty(14girls/16boys) OI cases from 24 different families were evaluated. In the molecular analyzes; There were pathogenic variants in the COL1A1 gene in 18(60%) cases, in the COL1A2 gene in 3(10%) cases, in both COL1A1 and COL1A2 genes in 1(3.3%) case, in the FKBP10 gene in 4(13.3%) cases, in the SERPINF1 gene in 2(6.7%) cases and in the P3H1 gene in 2 (6.7%) cases. Ventricular dysfunction indicators (right and left ventricular myocardial performance indices[RVMPI&LVMPI]) were statistically significantly higher in the OI group than in the control group. The cases were analyzed according to molecular variants, there was no difference between gene variants in terms of RVMPI and LVMPI. In terms of right ventricular diastolic function indicators (tricuspid A&E waves), there was no significant difference between the OI group and the control group, while the E/A ratio was statistically significantly lower in the OI group. There was no difference between the groups in terms of mitral E wave, however, a statistically significant decrease was in the A wave OI group. CIMT was low and FMD was high in the OI group, these differences were statistically significant. According to molecular variants; There was no difference in terms of FMD and CIMT.

Table1. Endothelial dysfunction indicators in cases
  OI(n:30) Healty control(n:30)  
Mitral E(cm/s) 90,53±17,44 96,67±12,58 P>0.05
Mitral A(cm/s) 50,43±10,28 57,7±13,1 P<0.05
E/A 1,86±0,52 1,73±0,31 P>0.05
Tricuspid A 52,13±12,56 47,07±10,1 P>0.05
trE/A 1,31±0,26 1,51±0,33 P<0.05
LVMPI 0,41±0,10 0,22±0,08 P<0.05
RVMPI 0,38±0,13 0,24±0,84 P<0.001
CIMT 0,42±0,06 0,34±0,46 P<0.001
FMD% 7,00±3,06 12,14±1,99 P<0.001

Conclusions: This study propounded that patients with OI without clinical signs of the cardiovascular system may have ventricular and endothelial dysfunction in the early period.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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