Zespół Marfana u 7-letniej dziewczynki – opis przypadku

2018 ◽  
Vol 22 (2) ◽  
Author(s):  
Małgorzata Ludzia ◽  
Radosław Pietrzak ◽  
Bożena Werner
Keyword(s):  
Marfan Syndrome ◽  
Aortic Root ◽  
Body Height ◽  
Premature Death ◽  
Joint Hypermobility ◽  
Left Ventricular ◽  
Ventricular Enlargement ◽  
Angiotensin Ii Receptor ◽  
Aortic Root Dilatation ◽  
Left Ventricular Enlargement

Marfan syndrome is a systemic, autosomal dominant connective tissue disorder with variable expressivity. An early diagnosis is challenging but important, because Marfan syndrome is associated with premature death in untreated patients. The authors present a case of a 7-year-old girl with Marfan syndrome. The child’s father was diagnosed with Marfan syndrome confirmed by genetic tests. The first symptoms of Marfan syndrome in the presented patient occurred at the age of 2 years, when she presented with mitral and tricuspid valve prolapse, scoliosis, joint hypermobility and body height above 97 percentile. In regular check-ups, aortic root dilatation and the enlargement of the left ventricle were first described one year later. It was decided to introduce beta blocker therapy. Due to the further progression of left ventricular enlargement the girl was given additionally angiotensin II receptor antagonist. In echocardiography follow up no increasing of the aortic root dilatation and the left ventricular enlargement is observed.

Comparison of Magnetic Ressonance Imaging vs Echocardiogram as Gold Standard for Diagnosing Left Ventricular Enlargement in Atrial Fibrillation Patients

2018 ◽  
Vol 51 (6) ◽  
pp. 1178
Author(s):  
Nelson Samesima ◽  
Pedro Augusto Moraes ◽  
Tatyane Saito ◽  
Horacio Pereira Filho ◽  
Mirella Facin ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Gold Standard ◽  
Left Ventricular ◽  
Ventricular Enlargement ◽  
Left Ventricular Enlargement

scholarly journals Remodeling of the heart and main vessels in patients with marfanoid habitus

2020 ◽  
Vol 10 (5) ◽  
pp. 27-34
Author(s):  
Eugene V. Timofeev ◽  
Eduard G. Malev ◽  
Nina N. Parfenova ◽  
Eduard V. Zemtsovsky
Keyword(s):  
Marfan Syndrome ◽  
Aortic Root ◽  
Structural Changes ◽  
Systolic Function ◽  
Interventricular Septum ◽  
Age Groups ◽  
Ventricular Myocardium ◽  
Left Ventricular ◽  
Control Group ◽  
Left Ventricular Myocardium

For many hereditary connective tissue disorders (HCTD), especially Marfan syndrome, remodeling of the heart and main vessels is described, which is manifested by a decrease in the systolic function of the left ventricle and expansion of the thoracic aorta. Evaluation of morphometric characteristics of the heart and main vessels in patients with other HCTD, in particular marfanoid habitus (MH) has not been previously carried out. Materials and methods. Weexamined 90 young men and 74 young women between the ages of 18 to 25 years, 111 patients older age groups with stable over coronary heart disease (mean age 64.66.2 years) and 9 patients with verified Marfan syndrome (mean age 27.99.3years). All survey phenotypic and performed anthropometric survey identifying bone signs of dysembryogenesis as well as Echocardiography study on standard protocol. The results.Patients with MH as compared with control group revealed a relatively larger diameter of aortic root (30.44.7 vs 28.03.6 mm,p= 0.03) and the ascending aorta (26.64.9 vs 24.63.2 mm,p= 0.05). Also young with MH turned out to be significantly thicker myocardium of left ventricular posterior wall (8.30.8 vs 7.71.1 mm,p= 0.02) and interventricular septum (8.81.2vs 8.21.1mm,p= 0.04). When performing correlation analysis identified reliable positive correlation between such highly specialized bone signs as high palate (r= 0.31), infundibular deformation of the chest (r= 0.43), arachnodactyly (r= 0.45) andZ-test (p 0.05 for all). Expansion of the aorta (Z-criterion 2.0) have found 24% of older patients with MH. Conclusion.Inpatients with MH revealed significant structural changes of heart and main vessels which are progredient character thickening of the left ventricular myocardium and expansion of the aortic root.

Abstract 2248: Prevalence and Long-term Clinical Significance of Aortic Root Dilatation in Competitive Athletes

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Fernando M Di Paolo ◽  
Elvira De Blasiis ◽  
Emanuele Guerra ◽  
Cataldo Pisicchio ◽  
Filippo M Quattrini ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Aortic Root ◽  
Large Population ◽  
Multivariate Regression Analysis ◽  
Left Ventricular ◽  
Normal Limits ◽  
Competitive Athletes ◽  
Clinical Surveillance ◽  
Aortic Root Dilatation

OBJECTIVES: Prevalence, clinical significance, and long-term consequences of aortic root (AoR) dilatation in competitive athletes are not yet investigated. Our aim was to assess the distribution and determinants of AoR size in a large population of competitive athletes. METHODS: AoR dimension were assessed by echocardiography in 2,361 athletes participating in 48 different sports. Of them, 43 were excluded because aortic structural abnormalities, such as bicuspid aortic valve, Marfan’s Syndrome, aortic prosthesis. The remaining 2,318, including 1,301 (56%) males and 1,017 (44%) females were the study population. Arbitrary cut-off of ≥ 40 mm, according to #36 th Bethesda Conference, was used as upper normal limits for AoR. RESULTS: AoR dimension was 32.2 ± 2.7 mm (23 to 44) in males, and 27.5 ± 2.6 mm (20 to 36) in females. AoR dimension exceeded accepted upper limits in only 18 male athletes (0.8%). Figure . Multivariate regression analysis showed left ventricular (LV) mass and body size explaining majority of AoR variability (R 2 = 0,59). Surprisingly, type of sport was not a determinant for AoR dimension. The 18 athletes with enlarged AoR were periodically followed for 7.0 ± 4.2 years. None developed cardiovascular events or symptoms. Two showed progression of AoR dilatation (from 40 to 48, and 43 to 46 mm, respectively), one had incident myocarditis and one developed moderate aortic regurgitation with enlarged LV cavity. CONCLUSIONS: Dilated aortic root is an uncommon finding in competitive athletes and do not represent expression of physiologic cardiac remodelling of the athlete’s heart. Therefore, athletes with dilated AoR deserves continued clinical surveillance.

Abstract 5769: Correlation of Bicuspid Valve Morphology and Pattern of Aortic Root Dilatation: A Substudy of the Aortic Stenosis Progression Observation Measuring Effects of Rosuvastatin (ASTRONOMER) Study

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Kapil M Bhagirath ◽  
Davinder S Jassal ◽  
James W Tam ◽  
Randy A Sochowski ◽  
Jean G Dumesnil ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Aortic Root ◽  
Type A ◽  
Left Ventricular ◽  
Doppler Imaging ◽  
Type B ◽  
Root Parameters ◽  
Standardized Protocol ◽  
Aortic Root Dilatation ◽  
Annular Calcification

Bicuspid aortic valve is the leading cause of aortic stenosis in patients younger than the age of 50. A classification scheme of bicuspid aortic valves (BAV) was recently proposed based upon leaflet orientation: Type A (fusion of right and left coronary cusps) and Type B (fusion of right and non-coronary cusps). The correlation between BAV leaflet orientation and aortic root pathology however remains ill defined. To describe a potential relationship between BAV leaflet morphology and aortic root measurements in the ASTRONOMER study, a multicentre study to assess the effect of Rosuvastatin on the progression of AS. Transthoracic echocardiography was performed with 2D and Doppler imaging following a standardized protocol. BAV morphology was classified as Type A or Type B orientation following review of the parasternal short-axis view. Echo measurements including left ventricular and aortic root dimensions were obtained according to the ASE recommendations. We identified 89 patients (56±11 years; 44 males). There were 63 patients with Type A and 26 with Type B BAV. Baseline demographic, hemodynamics, aortic root and left heart dimensions are listed in Table 1 . Patients with Type A BAV had larger aortic and ascending root dimensions than those patients with Type B BAV (p<0.05). Aortic valvular calcification and mitral annular calcification were similar between the two groups. All values are expressed as mean±SD. In patients with mild to moderate asymptomatic BAV, the presence of Type A valve orientation was associated with significantly greater aortic root parameters compared to Type B valve orientation. Whether the morphology of BAV may predict a subset of patients who will respond to statin therapy in preventing the progression of AS remains to be determined upon completion of the ASTRONOMER trial.

Left Ventricular Enlargement

2009 ◽  
pp. 1151-1151
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Left Ventricular ◽  
Ventricular Enlargement ◽  
Left Ventricular Enlargement
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