Systemic connective tissue involvement and cardiac involvement: the 2010 revised Gent nosology in the Marfan syndrome diagnostics

The author presents his view on the problem of Marfan syndrome-related hereditary connective tissue disorders, in particular, primary mitral valve prolapse and Marfanoid habitus, as the most prevalent manifestations. The changes in the assessment of external and visceral manifestations of Marfan syndrome, according to the originalGentnosology and its 2010 revision, are discussed. The importance of the evaluation of systemic connective tissue involvement, with the systemic score calculation and cardiac extracellular matrix assessment, is emphasised. The author presents the evidence justifying the need for a wider use of the cardiac involvement concept, in order to assess the severity of structural and functional disturbances of cardiac extracellular matrix in patients with primary mitral valve prolapse and Marfanoid habitus. The cardiac involvement assessment should be based on the systemic score, minor cardiac criteria, the number and type of minor cardiac abnormalities, the results of clinical examination, and the serum levels of transforming growth factors (TGF

Non-differentiated connective tissue dysplasia. "Carthage should be destroyed"?

In the last two decades, the interest in hereditary pathology of connective tissue structure and function has substantially increased in Russia. It is mostly explained by a new concept of "non-differentiated connective tissue dysplasia" (NDCTD). It has been proposed to diagnose NDCTD based on the simplified analysis of quantity and/or quality of external and visceral dysplasia symptoms. Such an approach resulted in manifold publications demonstrating NDCTD role in internal disease clinical status and clinical course. At the same time, due to the absence of clear definitions and diagnostic algorithms, this group includes some separate syndromes and phenotypes (MASS-like phenotype, mitral valve prolapse, joint hypermobility syndrome, etc.). The latter complicates literature data analysis and further development of CTD concept. Limitations of this concept are discussed in detail, and NDCTD is proposed to be diagnosed only in the absence of external and visceral symptoms of already known and described dysplastic syndromes and phenotypes

Mitral valve prolapse: «Much Ado About Nothing», or a real unsolved problem?

The paper discusses the modern state of the mitral valve prolapse (MVP) problem. Controversial and unresolved issues on terminology, diagnostics, and tactics for different MVP variants are considered on the basis of the “Heritable disorders of connective tissue” recommendations (2009) by Expert Committee, the Society of Cardiology of the Russian Federation (VNOK). The modern diagnostic criteria of MVP are discussed, as well as echocardiography-estimated MVP prevalence while using those diagnostic criteria, and the comparison of Framingham Heart Study results to the authors’ own data. The interrelation between autonomic dysfunction and MVP is assessed, and different approaches to the stratification of MVP complication risk are compared, based on the echocardiography results and clinical data. The modern methods of MVP treatment and management strategy are also described

SYSTEMIC INVOLVEMENT OF CONNECTIVE TISSUE AND THE HEART AS IMPORTANT CHARACTERISTICS OF PRIMARY MITRAL VALVE PROLAPSE

Aim. To evaluate systemic involvement of connective tissue (SICT) in young adultswith mitral valve prolapse (MVP) without significant mitral regurgitation (MR).Material and methods. We studied 78 asymptomatic young subjects (mean age19,7±1,6, 72% male) with MVP in comparison with 80 sex- and age-matchedhealthy subjects. We performed phenotypic examination of MVP patients andcontrol group subjects, and echocardiographic study to identify the minor heartanomalies. Longitudinal strain and strain rate (SR) were determined using spackletracking (Vivid 7 Dimension GE, EchoPAC’08).Results. We identified two clusters of patients with MVP. In the first cluster (17subjects, 28% of the MVP group) a significant reduction of longitudinal systolicstrain observed comparing to the control group and the second cluster (61 subjects,72%). Global strain in the second cluster did not differ significantly from the controlgroup. Echocardiographic study showed nonsignificant increase in the averagenumber of SICT points in the first cluster and highly significant increase of the minorheart anomalies’ number in this group of patients.Conclusion. Myocardial deformation assessment allowed to identify the signs ofcardiomyopathy in quarter of young asymptomatic patients with MVP. Increasingnumber of minor heart anomalies in the group with primary MVP and cardiomyopathyallows considering other valve prolapses, dilatation of major vessels, basal and thickLV chords as features of the SICT in primary MVP. A great number of minor heartanomalies in primary MVP may indicate a change in the heart extracellular matrixthat can cause the development of cardiomyopathy in primary MVP

Autonomous dysfunction in young patients with mitral valve prolapse and Marfanoid habitus

Aim. To assess autonomous regulation status in young patients with mitral valve prolapse (MVP), Marfanoid habitus (MH), and signs of systemic connective tissue involvement (SCTP). Material and methods. The study included 59 young men with MVP, MH, and SCTP. All participants underwent phenotypical and clinical examination, anthropometry, electrocardiography (ECG), echocardiography (EchoCG), Holter monitoring (HM) of ECG and blood pressure (BP), treadmill test, heart rate variability (HRV) assessment, and additional cardiovascular tests. Results. In patients with MVP, MH, and particularly SCTI, a significant decrease in daytime parameters of sinus arrhythmia was observed. These individuals were also characterized by significantly reduced spectral HRV parameters. A pathologic reaction to active orthostatic test was registered in 50% of the participants with MVP and MH. The overall assessment of autonomous regulation tests demonstrated the presence of abnormalreactions in more than 50% of MH individuals and in 80% of MVP patients. Conclusion. Autonomous dysfunction is common among young patients with MVP, MH, and SCTI

TACTICS OF THE PATIENT MANAGEMENT IN THORACIC AORTA DILATION: SELECTION THE ASSESSMENT METHOD, RESULTS EVALUATION

The article focuses on the review of the main methods of aorta visualization. The methods are described, as the algorithm of investigation method selection, strategy of patient’s management with aorta dilation. Special attention is paid for the patients with genetic disorders that may cause aorta dilation

Hereditary mechanisms in the development of sclerotic degenerative disorders of aortic valve

Aim. To investigate the role of hereditary mechanisms in the development of sclerotic degenerative disorders of aortic valve. Material and methods. Clinical, phenotypical, and echocardiographic examination was performed in 180 middle-aged and elderly people (mean age 63,8±9 years; 102 men, 78 women), including 86 patients with calcific aortic stenosis (55 after aortic valve surgery) and 61 controls. The diagnostic criteria of the National Guidelines on hereditary connective tissue disorders (2009) were used. The valve biopsy samples were examined using histological, morphological, and immunohistochemical (TGF

Causal factors in the development of thoracic aortic aneurysm

Aim. To assess the causal factors in the development of thoracic aortic aneurysm. Despite the existing screening programmes, widely used visualisation methods, and improved intervention techniques, aortic aneurysm remains one of the leading causes of sudden cardiac death. The existing evidence on the causal factors in the development of thoracic aortic aneurysm is contradictory. Material and methods. We analysed medical histories of the patients hospitalized for thoracic aortic stenting from early 2011 to May 1 2012. The age and gender composition of the sample and the main causal factors resulting in the development of thoracic aortic aneurysm were assessed. Results. In total, 90 patients underwent thoracic aortic stenting. The main causes for the development of thoracic aortic aneurysm were: bicuspid aortic valve (n=30, 34%), atherosclerosis (n=30, 34%), and Marfan syndrome (n=10, 95). In 45 intraintervention biopsy samples, cystic medial necrosis was found in 55%, atherosclerosis in 27%, and normal tissue in 15% (n=12). Conclusion. The most common concomitant pathology in patients with thoracic aortic aneurysm was bicuspid aortic valve, aortic atherosclerosis, and hereditary connective tissue disorders. The main causal factor in the development of thoracic aortic aneurysm was cystic medial necrosis