scholarly journals Role of heritable connective tissue diseases phenotypes in assessing the risk for internal diseases

2014 ◽  
Vol 95 (4) ◽  
pp. 501-505
Author(s):  
A V Tyurin ◽  
R A Davletshin ◽  
R M Muratova
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Mitral Valve Prolapse ◽  
Musculoskeletal Diseases ◽  
Connective Tissue Diseases ◽  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Systemic Manifestations

Aim. To identify the prevalence of main phenotypes of polygenic heritable connective tissue diseases in patients with internal diseases and to assess the prevalence of different internal diseases in such patients. Methods. The study involved 600 patients (254 males, 346 females) aged 18 to 64 years. Average age of males was 52±3.8 years, females - 47±2.2 years. Patients were examined to reveal the signs of different phenotypes of heritable connective tissue diseases in patients with internal diseases, as well as the severity of connective tissue diseases, and possibilities for it screening using the wrist and thumb hypermobility tests. Results. Signs of heritable connective tissue diseases were revealed in 147 (24.5%) patients with internal diseases. In females, those signs were observed in 104 (30.0%) cases, of which 44 (42.3%) were graded as mild, 35 (33.7%) - moderate, 25 (24.0%) - severe. In males, signs of heritable connective tissue diseases were revealed in 43 cases (16.9%), including mild - 17 (39.5%), moderate - 14 (32.5%) and severe - 12 (28.0%). Ehlers-like phenotype was the most common (52.0%), Marfan-like phenotype was observed in 14.0% of cases, primary mitral valve prolapse was diagnosed in 7.0% of patients, unclassifiable phenotype was observed in 11.0% of cases. Joint hypermobility syndrome was revealed in 31.0% of patients, presenting both as specific phenotypes (Marfan-like, Ehlers-like) and as a self-phenotype (31.9% of all the patients with heritable connective tissue diseases phenotype). Benign joint hypermobility was observed in 6.1% of cases. Symptoms of heritable connective tissue diseases were more frequent in patients with gastrointestinal and musculoskeletal diseases. Conclusion. The most common phenotype of heritable connective tissue diseases is Ehlers-like with skin, bone and systemic manifestations. Presence of heritable connective tissue diseases was most commonly associated with gastrointestinal and musculoskeletal diseases.

P.3.034 Joint hypermobility syndrome in panic disorder patients with and without mitral valve prolapse

2003 ◽  
Vol 13 ◽  
pp. S367-S368
Author(s):  
D. Gulpek ◽  
E. Bayraktar ◽  
S. Pyryldar ◽  
K. Capacy ◽  
M. Kayykcyoglu ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Panic Disorder ◽  
Mitral Valve Prolapse ◽  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome

scholarly journals Mitral Valve Prolapse In Patients With Benign Joint Hypermobility Syndrome (BJHS)

2019 ◽  
Vol 13 (1) ◽  
pp. 8-10
Author(s):  
Tariq Jassim Mohammed ◽  
Tariq Jassim Mohammed
Keyword(s):  
Mitral Valve ◽  
Mitral Valve Prolapse ◽  
Cross Sectional Study ◽  
Joint Hypermobility ◽  
Control Group ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome ◽  
Chi Square ◽  
Cross Sectional ◽  
Cardiac Assessment

Background: Joint hypermobility  was first mentioned by Hippocrates as an isolated feature, when he described the Celts' Incapacity to Pull a Bowstring or Throw a Dart, Due to The Slackness of Their Limbs Objective: to determine the prevalence of mitral valve prolapse(MVP)in patients with benign hypermobility syndrome (BJHS). Type of the study: Cross –sectional study. Methods: Ninety patients with BJHS were included in this study. Full cardiological assessment was done for all of them,  which  include clinical examination, electrocardiography and echocardiography. Cardiac assessment was done for another sixty age and sex matched (normal mobile) Individuals served as a control group. Statistical analysis was done by using T test or chi square as indicated. Results: Among 90 patients with BJHS, MVP was reported in 26 patients (28.9%) compared to four individuals (6.7%)of the control group on modern echocardiography studies (P=0.013). Conclusions: the prevalence of MVP was significantly higher among patients with BJHS compared to normal mobile individuals.    

Joint hypermobility syndrome and mitral valve prolapse in panic disorder

2004 ◽  
Vol 28 (6) ◽  
pp. 969-973 ◽  
Author(s):  
Demet Gulpek ◽  
Erhan Bayraktar ◽  
Sebnem Pirildar Akbay ◽  
Kazým Capaci ◽  
Meral Kayikcioglu ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Panic Disorder ◽  
Mitral Valve Prolapse ◽  
Joint Hypermobility ◽  
Hypermobility Syndrome ◽  
Joint Hypermobility Syndrome

scholarly journals P290 Differences in cardiac dimensions in mitral valve prolapse with or without Barlow phenotype

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
V Kamoen ◽  
S Calle ◽  
T De Backer ◽  
F Timmermans
Keyword(s):  
Mitral Valve ◽  
Connective Tissue ◽  
Mitral Valve Prolapse ◽  
Systolic Pressure ◽  
Connective Tissue Diseases ◽  
Left Atrial Volume ◽  
Left Ventricular ◽  
Volume Index ◽  
Left Atrial Volume Index ◽  
Ventricular Systolic Pressure

Abstract Background Mitral valve prolapse (MVP) is a common cause of chronic mitral regurgitation (MR). Barlow’s disease (BD) and fibro-elastic deficiency (FED) are two major entities of MVP affecting the connective tissue of the mitral valve, but both have a different underlying pathophysiology and phenotype. In some connective tissue diseases (CTD), it has been suggested that ventricular dysfunction occurs despite absence of MR, suggesting that CTD directly involve the myocardium. We therefore investigated whether patients with BD have different cardiac dimensions compared to FED, after correcting for MR severity grade. Methods 134 patients with MVP and chronic MR were prospectively included. MR was graded carefully by echocardiography using a multi-parametric approach. The morphology of the mitral valve prolapse was specified as definite Barlow (n = 45) or non-Barlow (n = 89; FED, flail leaflet or unspecified etiology) by two experienced echocardiographers. Results In our cohort, MR was significantly more severe in the non-Barlow group compared to typical BD group (regurgitant volume (RV) 51 vs 33 ml, p = 0.021; right ventricular systolic pressure, 40 vs 34 mmHg, p= 0.05, left atrial volume index, 51 vs 42 ml/m², p = 0.07, respectively). However, there was a trend towards higher left ventricular end-diastolic diameter index (LVEDDi, 27.7 vs 29 mm, p = 0.07) and a significantly higher end-diastolic volume index (LVEDVi, 62 vs 71 ml/m², p= 0.02) in the Barlow group, despite similar ejection fractions and much less MR in the Barlow group. This resulted in a significantly higher RV/LVEDV ratio in the non-Barlow group compared to the Barlow group (42% vs 23%, p = 0.001). Similarly, the LA volume/LVEDV ratio was significantly lower in the Barlow cohort (63 vs 79%, p= 0.026). There were no significant differences in aortic dimensions between groups. Conclusions We describe for the first time that compared to non-Barlow (mostly FED), patients with MVP due to typical Barlow disease have larger ventricular dimensions and volumes, which are disproportionate to the degree of MR. We therefore hypothesize that the connective tissue alterations in these patients may also involve the myocardium resulting in LV dilation independent of MR. Further investigation and clinical implications of these findings is mandatory.

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