Cardiomyopathy in patients with Marfan syndrome and marfanoid habitus

Abstract

MSis one of the most common heritable disorder of connective tissue. In the range of MS complications are aortic aneurism, mitral valve prolapses and myocardial dysfunction (1). MS manifestations caused by mutations of fibrillin-1, a structural component of extracellular matrix, and also violation of the regulation of transforming growth factor-β. A number of studies (2,3) showed that excessive activation of TGF-β signaling pathway is the main reason of the impairment of LV function and aorta pathology in MS. Deterioration of systolic and diastolic function and enlargement of LV dimensions was found in patients with MS regardless the absence of hemodynamic overload due to mitral or aortic regurgitation in presence of mitral valve prolapse or aortic dilatation. The term "Marfan cardiomyopathy" is used to indicate changes in left ventricular function in the absence of significant valvular pathology in MS (4,5). In spite the fact that cardiomyopathy in MS is well studied it is still unknown if there are changes in the cardiac function in patients with similar connective tissue abnormality such as marfanoid habitus. marfanoid habitus includes arachnodactyly, long hands and feet, increased skin stretch, joint hypermobility and changes in the physiology of the pectus (Table 1). METHODS:In the study were included 98 persons -8 patients with Marfan syndrome, 24 with marfanoid habitus and 66 healthy subjects. Echocardiography was performed to all patients. Speckle tracking echocardiography was used to assess the left ventricular deformation indices. Concentrations of transforming growth factor-β1 and -β2 in serum were determined by enzyme-linked immunosorbent assay. RESULTS:Systolic left ventricular function was significantly lower in the Marfan syndrome group; as well global longitudinal left ventricular strain worsening was detected in MS group comparing to control group. In marfanoid habitus subjects, we found significant decrease of the circumferential strain in the interventricular septum and inferior wall. transforming growth factor-β1 and -β2 serum levels were elevated in patients with Marfan syndrome. Elevation of transforming growth factor-β1 was statistically nonsignificant unlike to transforming growth factor-β2 in the marfanoid habitus group. Negative correlations between the serum level of transforming growth factor-β2 and systolic radial strain in the marfanoid habitus group also have been found. CONCLUSION:Worsening of regional myocardial deformation may be the first sign of deterioration of the left ventricular systolic function and the existence of primary cardiomyopathy in asymptomatic marfanoid habitus patients, which could affect their long-term prognosis and may be caused by increased transforming growth factor-β signaling. Key Words: Marfan syndrome; Marfanoid habitus; Cardiomyopathy; Left ventricular systolic function; Myocardial deformation; Transforming growth factor-βMarfanoid features are present in several heritable disorders of connective tissue, mimicking some of the changes of Marfan syndr...

Left ventricular systolic dysfunction in young subjects with marfanoid habitus

“…Аналогичные данные о более низких показателях систолической деформации на фоне концентрического ремоделирования, описанные для пациентов с синдромом Марфана и первичным ПМК [18,21], обычно объясняют дизрегуляцией сигнального пути TGF-β (трансформирующего ростового фактора) [24]. По ранее опубликованным нами данным, у пациентов с МВ также отмечается активация TGF-β, что подтверждается более высокими значения-ми концентрации этого цитокина в крови [25]. Это является доказательством того, что МВ, равно как и синдром Марфана и первичный ПМК, следует относить к группе фибриллинопатий.…”