[Personalized Risk Assessment of Adverse Cardiovascular Events in Young Patients With Connective Tissue Dysplasia].

Adverse cardiovascular manifestations (ACVM) were registered during 7-year follow-up of young patients with undifferentiated connective tissue dysplasia (CTD). ACVM developed in 28.42% of patients. Most frequent ACVMs were extension/aneurysm of the thoracic aorta (10.75%), cerebral vascular syndrome (10.56%), and arrhythmias (9.11%). Most significant risk factors for extension/aneurysm of the aorta were pathology of vertebral arteries, common risk factors (arterial hypertension, alcohol/drugs, smoking, heavy physical work, sports activities), bicuspid aortic valve); for pathology of cerebral vessels--completely open Willis' Circle, pathology of vertebral arteries, CTD related changes of skin and spine, diagnostic CTD coefficient > 23, chronic diseases of veins; clinically significant cardiac rhythm disturbances--combined valve manifestations of CTD, myxomatous degeneration of heart valves, pathology of the aorta, male sex, metabolic changes of the myocardium, deviations of circadian index, predominance of sympathetic tone, and diastolic dysfunction. Analysis of clinical characteristics (age, symptoms and severity of CTD, QTc dispersion ≥ 50 ms) and presence of unfavorable genetic polymorphisms in β1-adrenergic receptor gene (Ser49Gly, rs1801252), transcription factor Sp4 gene (A80807T, rs1011168), genes of matrix metalloproteinases type 3 (5A/6A) and type 9 (8202 A/G) allowed to evaluate overall risk of ACVM.