Редкий вариант первичной цилиарной дискинезии в сочетании с наследственной геморрагической телеангиэктазией 1-го типа: клиническое наблюдение

Primary ciliary dyskinesia (PCD) is a rare genetic disease belonging to the group of ciliopathies. The disease develops because a defect in the ultrastructure of the epithelial cilia in the respiratory tract and similar structures (sperm flagella, villi of the fallopian tubes, ventricular ependyma, etc.) disturbs their motor function. Currently, various clinical and genetic variants of the disease are distinguished, increasing the effectiveness of dynamic examination and treatment.Aim. In this article, we describe a patient with a rare variant of PCD that we identified in combination with a mutation in the ENG gene responsible for the development of hereditary hemorrhagic telangiectasia type 1 (HHT-1). HHT-1 is a rare hereditary disease that manifests as various vascular dysplasias, including arteriovenous malformations (AVM) in the lungs, which can significantly worsen the course of the disease and be a predictor of an unfavorable outcome.Conclusion. The presented case demonstrates a combination of two rare genetic diseases in a child. The uniqueness of the case also lies in the fact that the identified rare mutation in the DRC1 gene responsible for the development of PCD is not associated with a loss of motility of the cilia of the ciliated epithelium, which makes the testing and the correct diagnosis even more difficult.Первичная цилиарная дискинезия (ПЦД) — редкое генетически детерминированное заболевание из группы цилиопатий, основу которого составляет дефект ультраструктуры ресничек эпителия респираторного тракта и аналогичных им структур (жгутики сперматозоидов, ворсины фаллопиевых труб, эпендимы желудочков и др.), в результате которого нарушаются их двигательные функции. В настоящий момент выделяются различные клинико-генетические варианты заболевания, что позволяет повысить эффективность проводимого динамического обследования и лечения.Целью работы явилось описание собственного клинического наблюдения за пациенткой с выявленным редким вариантом ПЦД в сочетании с мутацией в гене ENG, ответственном за формирование наследственной геморрагической телеангиэктазии (НГТ) 1-го типа, которая также является редким наследственным заболеванием, проявляющимся различными сосудистыми дисплазиями, в т. ч. артериовенозными мальформациями в легких, что может существенно ухудшать течение заболевания и быть предиктором неблагоприятного исхода.Заключение. По данным клинического наблюдения продемонстрировано сочетание двух редких генетических заболеваний у ребенка. Уникальность случая состоит также в том, что выявленная редкая мутация в гене DRC1, отвечающая за формирование ПЦД, не сопровождается потерей подвижности ресничек мерцательного эпителия, что является фактором, еще более затрудняющим диагностику

Sildenafil in the treatment of pulmonary hypertension

The paper describes the clinical use of a phosphodiesterase 5 inhibitor (sildenafll) in a patient with primary pulmonary hypertension during a long-term controlled follow-up. The 6-year use of sildenafll as monotherapy for pulmonary hypertension had a significant positive effect as a decrease in the functional class of pulmonary hypertension from 3 to 1, an increase in exercise tolerance, improvements in echocardiographic parameters and biochemical markers (brain natriuretic peptide), and a rise in oxygen uptake during cardiorespiratory testing

Current examination methods in patients with hypertrophic cardiomyopathy

The high incidence of myocardial hypertrophy poses practitioners a problem in the differential diagnosis and early detection of patients with hypertrophic cardiomyopathy among those with myocardial hypertrophy in order to define treatment policy, to prevent life-threating conditions, and to improve prognosis. The paper presents current approaches to diagnosing hypertrophic cardiomyopathies and molecular genetic studies; 3D echocardiography that allows the accurate measurement of the volume parameters of cardiac chambers; speckle tracking and assessment of left atrial and left ventricular strain as diagnostic and prognostic criteria for the course of hypertrophic cardiomyopathy; cardiac MRI and determination of the volume parameters, myocardial mass, and trabecular pattern of the left ventricle; biochemical parameters of atrial overload (B-type or brain natriuretic peptides) and myocardial ischemia (troponin T), as well as electrocardiographic studies

Investigation of myocardial kinetics in clinical practice: Reference values of deformity, rotation, and torsion

Most cardiologists are familiar with current echocardiographic techniques — the latter study myocardial deformity, rotation, torsion, etc. However, not all practitioners realize the possibility of introducing the results of these current examinations into clinical practice. The introduction is hampered by a lack of platform-independent technologies and reference values in different age ranges and an investigator’s high subjectivism during data extraction. The paper presents the specific features of an echocardiographic procedure for analyzing the values and lower normal limit for myocardial (longitudinal, lateral, and circular) deformity, rotation, torsion with consideration for differences in gender, age, etc., as well as the specific features of changes in the study indicators in the main groups of myocardial diseases

2D speckle-tracking assessment of left ventricular myocardial strain in healthy children and adolescents

Introduction.To determine the relevant indicators of strain and strain rate of the left ventricular myocardium in children and adolescents.Materials and methods. Have been examined 67 patients form aged from 7 up to 17 years old. 1-st group – 30 children from 7 to 11 years old; 2-nd group – 37 adolescents from 12 to 17 years old. Аt an echocardiographic examination the systolic function of the left ventricle was determined: ejection and shortening fractions, in 2D-speckle-tracking mode – global and segmental longitudinal, circular and radial strain and strain rates.Results. Have been studied the relevant indicators of global and segmental longitudinal, radial, circular deformities of the left ventricular myocardium and their rates in healthy children and adolescents. A statistically significant increase in global and segmental longitudinal strain, radial and circular strain rates in the 2-nd group compared with the 1-st group had revealed. Had found that the uniform distribution of indicators in the ranges of confidence intervals, noted in the assessment of global radial strain and circular strain rate, as well as a statistically significant predominance of strain indicators in the subendocardial layers compared with the subepicardial layers of the myocardium left ventricle.Conclusions. 1. In adolescents 12–17 years old, compared with children 7–11 years old, there is a statistically  significant predominance of global and segmental longitudinal strain, radial and circular strain rates of the left  ventricular myocardium. Radial strain and circular strain rate of the left ventricular myocardium are the most uniform in contrast to other indicators of strain.2. In healthy children and adolescents, had observed statistically significant higher strain and strain rate in the subendocardial layer compared to the subepicardial layer of the myocardium.3. The obtained indicators of global and segmental myocardial strain can serve as normative for children and  adolescents in assessing the systolic function of the left ventricle

Mitochondrial disorders in progressive muscular dystrophies

The literature review gives data on the role of mitochondrial disorders in the pathogenesis of different progressive muscular dystrophies. It describes changes in Duchenne, limb-girdle, facial scapulohumeral (Landuzi—Degerina) muscular dystrophies. The review is based on both clinical and experimental animal studies. Along with the implication of mitochondria in the pathogenesis of the diseases, it describes muscular dystrophy treatment options compensating for energy disorders and overcoming oxidative stress and mitochondrial dysfunction. Mitochondrial studies in different muscle diseases hand physicians treatment modalities that fail to lead to recovery, but compensate for disorders caused by mutations in the genetic apparatus

Diagnosis of systolic myocardial dysfunction: analysis of myocardial deformity

A modern highly informative method for the functional diagnosis of the myocardium is the study of the myocardial strain, i.e. changes in the geometry of the myocardium, evaluated in different directions. In the strain, the deformation (change of the starting, or initial geometry) and the transformation (restoration of the original geometry) are distinguished. The stages of development of systolic myocardial dysfunction (early, deployed and decompensation stages), as well as the processes in the myocardium at each stage were studied. The earliest manifestations of systolic myocardial dysfunction are a decline in the longitudinal strain and compensatory increase in performance of the circular(and radial)strain. The reduction of the global ejection fraction isrevealed only at the stage of decompensation. The standard data on the magnitude of the longitudinal, radial and circular strain in adults are given, as well as own data on the magnitude of the radial and longitudinal strain in children. In 37 children without myocardial diseases at the age from 7 to 17 years, segmental radialstrain on the average was 34±9% (the lowerlimit of the norm is 20%). No significant differencesin the magnitude of radialsegmental strain in groups of children aged 7–11 and 12–17, as well as in the groups of children with body surface area from 0.65 to 1.3 m2 and from 1.31 to 1.73 m2 were revealed. The lowerlimit of the norm for the longitudinalstrain in the study group was –20%

Aortic root dilatation in patients with Alport’s syndrome

A total of 50 patients from 45 unrelated families diagnosed with Alport’s syndrome were examined. The diagnosis was based on molecular genetic testing or kidney biopsy. To assess changes in the aortic root, its volume was examined (calculation methods were given). Most patients with Alport’s syndrome were found to have cardiovascular disorders, such as hypertension; dilatation of the ring of the aortic valve; dilatation of the sinuses of Valsalva; some patients had dilatation of the sinotubular junction; dilatation of the ascending aorta; enlargement of the left ventricle; mitral and aortic insufficiency. In the patients with Alport’s syndrome, the median value of aortic root volume is 9.9 Z3, which substantially exceeds the permissible upper normal limit according to the general population data, which is 2.82 Z3. The rate of aortic root dilatation (volume increase) in the patients with Alport’s syndrome rises with an increase in the surface area of the body. In Alport’s syndrome, aortic root dilatation is unrelated to the presence of hypertension that occurs with a relative frequency of 0.52. Dilatation of the ascending aorta in Alport’s syndrome is diagnosed with a relative frequency of 0.37 and significantly more frequently diagnosed in male subjects (the statistical significance of a two-sided test is p=0.056; Fisher’s test is p=0.097; risk posed for men is OR = 7.2; 95% CI, 1.63-31.72. Changes in the cardiovascular system are also detected in female carriers of X-linked Alport’s syndrome; therefore they should be followed up by a cardiologist

Cardiac lesion in children with inherited neuromuscular diseases

The paper presents the current views regarding the concept of unity of pathological changes in the skeletal and cardiac muscles in children with inherited neuromuscular diseases: myodystrophies, spinal amyotrophies, congenital myopathies, myonbrillar myopa-thies, metabolic myopathies, myotonia, polyneuropathies, and etc

Differential approach to treating life-threatening arrhythmogenic conditions in patients with X-linked Emery—Dreifuss myopathy

The paper gives 2 clinical examples of patients with the same diagnosis of progressive X-linked Emery-Dreifuss muscular dystrophy and the different course of rhythm and conduction disorders, which have determined various approaches to management tactics. There is evidence for a differential approach to pacemaker implantation, by confirming the correctness of management tactics in a long-term follow-up. A 27-year-old patient had no indications for pacemaker implantation. The other patient aged 13 years was found to have indications and underwent implantation; however, thrombi formed on the electrodes and the atrial electrode needed to be further disconnected