Review of Clinical Recommendations for Kawasaki Disease/Syndrome

The article presents the detailed key provisions of the clinical recommendations on providing medical care to children with Kawasaki syndrome/illness, developed by the professional association of pediatric specialists — the Union of Pediatricians of Russia. The current data on the prevalence of pathology is presented, the characteristic diagnostic signs of the disease are given that allow to make a diagnosis as soon as possible and immediately appoint a specific treatment. Therapeutic measures carried out in the required volume determine the further prognosis. The comprehensive approach to the management of pediatric patients with this nosology presented in the article will ensure a high level of medical care quality provided to children with Kawasaki syndrome

Genetic landscape in Russian patients with familial left ventricular noncompaction

BackgroundLeft ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study is to clarify the genetic landscape of LVNC in a large cohort of well-phenotyped Russian patients with LVNC, including 48 families (n=214).MethodsAll index patients underwent clinical examination and genetic analysis, as well as family members who agreed to participate in the clinical study and/or in the genetic testing. The genetic testing included next generation sequencing and genetic classification according to ACMG guidelines.ResultsA total of 55 alleles of 54 pathogenic and likely pathogenic variants in 24 genes were identified, with the largest number in the MYH7 and TTN genes. A significant proportion of variants −8 of 54 (14.8%) −have not been described earlier in other populations and may be specific to LVNC patients in Russia. In LVNC patients, the presence of each subsequent variant is associated with increased odds of having more severe LVNC subtypes than isolated LVNC with preserved ejection fraction. The corresponding odds ratio is 2.77 (1.37 −7.37; p <0.001) per variant after adjustment for sex, age, and family.ConclusionOverall, the genetic analysis of LVNC patients, accompanied by cardiomyopathy-related family history analysis, resulted in a high diagnostic yield of 89.6%. These results suggest that genetic screening should be applied to the diagnosis and prognosis of LVNC patients

Обзор клинических рекомендаций по болезни/синдрому Кавасаки

The article presents the detailed key provisions of the clinical recommendations on providing medical care to children with Kawasaki syndrome/illness, developed by the professional association of pediatric specialists — the Union of Pediatricians of Russia. The current data on the prevalence of pathology is presented, the characteristic diagnostic signs of the disease are given that allow to make a diagnosis as soon as possible and immediately appoint a specific treatment. Therapeutic measures carried out in the required volume determine the further prognosis. The comprehensive approach to the management of pediatric patients with this nosology presented in the article will ensure a high level of medical care quality provided to children with Kawasaki syndrome.В статье подробно представлены ключевые положения клинических рекомендаций по оказанию медицинской помощи детям с синдромом/болезнью Кавасаки, разработанных профессиональной ассоциацией детских специалистов — Союзом педиатров России. Изложены современные данные о распространенности патологии, приведены характерные диагностические признаки болезни, позволяющие максимально своевременно установить диагноз и незамедлительно назначить специфическое лечение. Терапевтические мероприятия, проведенные в необходимом объеме, определяют дальнейший прогноз. Представленный в статье комплексный подход к ведению пациентов детского возраста с данной нозологией позволит обеспечить высокий уровень качества оказываемой медицинской помощи детям с синдромом Кавасаки

THE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASES

Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart failure, arrhythmias, and thromboembolic complications). Considering the variety of genetic disorders associated with the development of noncompaction cardiomyopathy, genetic verification of the diagnosis is important for determining the prognosis and conducting genetic counselling of families with cases of the disease.Description of the Clinical Case. The article presents two clinical observations of a severe course of non-compaction cardiomyopathy with remodeling of the heart cavities according to the dilated phenotype. In order to clarify the disease etiology, a molecular genetic study was conducted using the method of direct automatic sequencing with the analysis of targeted regions of 404 genes which mutations are described in hereditary diseases of the heart and blood vessels. After verifying the mutation (in the ACTC1 and MYBPC3 genes), we performed a search for the detected nucleotide substitution in the venous blood samples of parents and in one case — in the fetal DNA sample. The mode of inheritance has been determined; the probability of recurrence of the disease in siblings in subsequent pregnancies has been estimated.Conclusion. The description of clinical cases shows the importance of genetic verification of the diagnosis in patients with non-compaction cardiomyopathy for determining the disease prognosis and developing an algorithm for monitoring relatives of a proband