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

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

Left ventricular function in mitral valve prolapse and severe mitral regurgitation

Aim. To assess systolic left ventricular (LV) function in patients with mitral valve prolapse (MVP) and different morphological MV disorders. Material and methods. The study included 233 patients (mean age 53,8±12,9 years), who underwent MV surgery due to MPV and severe mitral regurgitation (MR) at the V. A. Almazov Federal Centre of Heart, Blood, and Endocrinology in 2009-2011. The resected MV segments underwent a pathomorphological examination; preoperative strain and strain rate were assessed with the speckle tracking method (EchoPAC’08). Results. Based on the pathomorphological data, Barlow’s disease was registered in 60 patients (25,8%), and fibroelastic deficiency in 173 patients (74,2%). The preintervention echocardiography did not demonstrate any significant difference between the two groups in terms of preoperative MR volume (70,5±9,6 ml vs. 71,6±8,5 ml, p=0,40), systolic LV function (ejection fraction 52,7±6,6% vs. 52,0±7,4%; p=0,53) and diastolicLV function (E/e’ 12,2±3,9 vs. 12,8±4,2; p=0,35). Despite no difference in ejection fraction, the Barlow’s disease group demonstrated a significant reduction inLV longitudinal systolic (-13,5±2,2% vs. -16,6±2,3%; p=0,008) and diastolic strain (1,14±0,20 s-1 vs. 1,34±0,18 s-1; p=0,04), as well as in strain rate (-0.89±0,15 s-1 vs. -1,14±0,15 s-1; p=0,002), compared to the fibroelastic deficiency group. Conclusion. Patients with Barlow’s disease, compared to patients with fibroelastic deficiency, have a lower preoperative LV systolic function, which might affect the postoperative long-term survival rates. The deteriorated LV function could be due to the damage of endocardial and intramyocardial extracellular matrix in Barlow’s disease

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

Flat footedness as a marker of systemic connective tissue and cardiac involvement in young patients with Marfanoid habitus

Aim. To assess the potential of plantography indices in the diagnostics of flatfootedness, as a manifestation of Marfanoid habitus, systemic connectivetissue involvement (SCTI), and cardiac involvement.Material and methods. In total, 50 young patients (mean age 22,5±2,1 years) were examined. In some participants, Marfanoid habitus and/or signs of SCTI were registered. All patients underwent phenotypic examination, polyposition echocardiography, and plantography (Scan complex). The predictive potential of the visual method and plantography indices (PI) for flat footedness diagnostics in individuals with Marfanoid habitus and SCTI was assessed. The correlation between minor cardiac abnormalities and PI was also examined.Results. The visual method was inadequately specific in the SCTI diagnostics, whilePI were highly specific in diagnosing SCTI and Marfanoid habitus. Moreover, therewas a strong correlation between the number of pathologic PI and the number ofminor cardiac abnormalities, as well as an inverse correlation between PI andejection fraction.Conclusion. The visual method is highly sensitive, but inadequately specific in thediagnostics of SCTI and Marfanoid habitus, while PI are highly specific. The strongcorrelation between PI and minor cardiac abnormalities suggests that flat footednesscould be regarded as an additional marker of cardiac extracellular matrix pathology inhereditary syndromes with Marfanoid phenotype