ЕС

Е. С. Васичкина

Federal Almazov North-West Medical Research Centre

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Anna Kostareva

Federal Almazov North-West Medical Research Centre

ТМ

Т. М. Первунина

Federal Almazov North-West Medical Research Centre

ТЛ

Т. Л. Вершинина

Federal Almazov North-West Medical Research Centre

ДС

Д. С. Лебедев

Federal Almazov North-West Medical Research Centre

D. Yu. Alekseeva

Federal Almazov North-West Medical Research Centre

ТК

Т. К. Кручина

Medical Technologies (Czechia)

ДФ

Д. Ф. Егоров

First Pavlov State Medical University of St. Petersburg

OА

O. А. Kofeynikova

Federal Almazov North-West Medical Research Centre

T. S. Kovalchuk

Federal Almazov North-West Medical Research Centre

S. G. Fetisova

Federal Almazov North-West Medical Research Centre

Cooperative Institutions

Federal Almazov North-West Medical Research Centre

196

Ministry of Health of the Russian Federation

114

Charles University

Inserm

Istituti di Ricovero e Cura a Carattere Scientifico

Scunthorpe General Hospital

National and Kapodistrian University of Athens

Leiden University Medical Center

Institute of Cardiology

Centro de Investigación en Red en Enfermedades Cardiovasculares

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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

npj Genomic Medicine (2021)

Mario Torrado Germán Fernández Christian A. Ganoza Emilia Maneiro Diego A. León García

Abstract Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed one known heterozygous pathogenic missense variant, KCNQ1 p.R259L, previously associated with LQTS but insufficient to explain the cardioauditory disorder. In a screening of proximal intronic regions, we found a heterozygous variant, KCNQ1 c.1686−9 T > C, absent from controls and previously undescribed. Several splicing prediction tools returned low scores for this intronic variant. Driven by the proband’s phenotype rather than the neutral predictions, we have characterized this rare intronic variant. Family analysis has shown that the proband inherited the missense and the intronic variants from his mother and father, respectively. A minigene splicing assay revealed that the intronic variant induced an additional transcript, arising from skipping of exon 14, which was translated into a truncated protein in transfected cells. The splice-out of exon 14 creates a frameshift in exon 15 and a stop codon in exon 16, which is the last exon of KCNQ1 . This mis-spliced transcript is expected to escape nonsense-mediated decay and predicted to encode a truncated loss-of-function protein, KCNQ1 p.L563Kfs*73. The analysis of endogenous KCNQ1 expression in the blood of the proband’s parents detected the aberrant transcript only in the patient’s father. Taken together, these analyses confirmed the proband’s diagnosis of JLNS1 and indicated that c.1686−9 T > C is a cryptic splice-altering variant, expanding the known genetic spectrum of biallelic KCNQ1 variant combinations leading to JLNS1.

Proband

Minigene

Exon skipping

splice

Nonsense-Mediated Decay

10.1038/s41525-021-00183-y

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Citations (7)

Additional file 1 of A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Figshare (2020)

Anna Zlotina Olesia Melnik Yulia Fomicheva Rostislav Skitchenko Alexey Sergushichev

Additional file 1. Rare protein-changing genetic variants identified in the proband by whole exome sequencing. The table provides information on missense, nonsense, frameshift and splicing genetic variants with gnomAD exome allele frequency < 0.001. The data on the rare variants include genomic coordinates, “rs” ID, homo-/heterozygosity state, allele frequencies based on gnomAD and Kaviar, gene description and tissue specificity including cardiac and muscle specific expression (GTEx), associated clinical conditions, CADD and other predictors of variant functional effect.

Coloboma

Polydactyly

10.6084/m9.figshare.13269807

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BARTH SYNDROME IN PRACTICE OF CARDIOLOGY

Russian Journal of Cardiology (2018)

Olga V. Melnik T. S. Loevets Т. Л. Вершинина A. Ya. Gudkova Yu. V. Fomicheva

Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric development. In the article, a clinical case provided of the Barth syndrome, confirmed by target sequencing of TAZ gene in a boy of 1st year of life, presented in 3 months age by an episode of infectious disease and dilation cardiomyopathy, with family anamnesis of sudden death at the moment of infectious disease in the grand uncle of proband. In dynamics, the patient showed delayed motoric development, as the delay in mass and height (<3 percentile), persistent absolute neutropenia, stable high levels of cardiospecific enzymes, NT-proBNP, symptomes of severe heart failure with following fatal outcome at age of 12 months from sudden death during an episode of infectious disease. The multidisciplinarity presented, as the necessity for clear understanding by practitioners of the specifics

Proband

Anamnesis

10.15829/1560-4071-2018-3-54-59

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Citations (1)

ABSTRACTS

EP Europace (2009)

Amir AbdelWahab Martin J. Gardner R. Parkash Magdy N. Basta Jeff Sapp

10.1093/europace/eup171

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Citations (1)

Premature Ventricular Contraction in Children

Педиатрическая фармакология (2019)

Baranov Aa Е. С. Васичкина Roza A. Ildarova Д. С. Лебедев Leyla S. Namazova-Baranova

The article presents updated data on the problem of premature ventricular contractions in children based on the clinical guidelines of the Russian Society of Cardiology and the Union of Pediatricians of Russia for the diagnosis, treatment and management of pediatric patients with premature ventricular contraction. The issues of diagnosis and treatment based on the principles of evidence-based medicine as well as important aspects of prevention of exacerbations and follow-up have been clarified in detail. The criteria for assessing the quality of care for patients with premature ventricular contractions have been presented. CONFLICT OF INTEREST. Not declared.

Clinical Practice

10.15690/pf.v15i6.1981

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Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood

Orphanet Journal of Rare Diseases (2022)

Aleksey Muravyev Т. Л. Вершинина Pavel Tesner Gunnar Sjöberg Yu. V. Fomicheva

Abstract Background FLNC is one of the few genes associated with all types of cardiomyopathies, but it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular and cardiac involvement is not often observed in filaminopathies and the impact of this on the disease prognosis has hitherto not been analyzed. Results Here we provide a detailed clinical, genetic, and structural prediction analysis of distinct FLNC -associated phenotypes based on twelve pediatric cases. They include early-onset restrictive cardiomyopathy (RCM) in association with congenital myopathy. In all patients the initial diagnosis was established during the first year of life and in five out of twelve (41.7%) patients the first symptoms were observed at birth. RCM was present in all patients, often in combination with septal defects. No ventricular arrhythmias were noted in any of the patients presented here. Myopathy was confirmed by neurological examination, electromyography, and morphological studies. Arthrogryposes was diagnosed in six patients and remained clinically meaningful with increasing age in three of them. One patient underwent successful heart transplantation at the age of 18 years and two patients are currently included in the waiting list for heart transplantation. Two died due to congestive heart failure. One patient had ICD instally as primary prevention of SCD. In ten out of twelve patients the disease was associated with missense variants and only in two cases loss of function variants were detected. In half of the described cases, an amino acid substitution A1186V, altering the structure of IgFLNc10, was found. Conclusions The present description of twelve cases of early-onset restrictive cardiomyopathy with congenital myopathy and FLNC mutation, underlines a distinct unique phenotype that can be suggested as a separate clinical form of filaminopathies. Amino acid substitution A1186V, which was observed in half of the cases, defines a mutational hotspot for the reported combination of myopathy and cardiomyopathy. Several independent molecular mechanisms of FLNC mutations linked to filamin structure and function can explain the broad spectrum of FLNC -associated phenotypes. Early disease presentation and unfavorable prognosis of heart failure demanding heart transplantation make awareness of this clinical form of filaminopathy of great clinical importance.

Congenital myopathy

Neuromuscular disease

Restrictive cardiomyopathy

10.1186/s13023-022-02477-5

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СИНДРОМ ВОЛЬФА–ПАРКИНСОНА–УАЙТА У ДЕТЕЙ: КЛИНИКА, ДИАГНОСТИКА, ЛЕЧЕНИЕ

Педиатрическая фармакология (2015)

Т. К. Кручина Е. С. Васичкина Г. А. Новик Д. Ф. Егоров

Wolff–Parkinson–White (WPW) syndrome — is the most common cause of tachycardia in children. The clinical significance of WPW udden cardiac death. Data are presented on the principles of diagnosis of various types of WPW syndrome and characteristics of various types of tachycardia occurring in this disease. At present there is a radical method of treatment of the WPW syndrome — radiofrequency ablation of atrioventricular additional connections. Antiarhythmic therapy remains relevant in arresting attacks of tachycardia, as well as in the treatment of young children who have the age limits for radiofrequency ablation. The principles of choice of treatment and relief of the attack algorithm tachycardia syndrome WPW are described. Key words: Wolff–Parkinson–White syndrome, paroxysmal atrioventricular reciprocal tachycardia, children. ( Pediatric Pharmacology. — 2011; 8 (5): 49–53.)

WPW SYNDROME

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Case Report: COVID-19-Associated ROHHAD-Like Syndrome

Frontiers in Pediatrics (2022)

I. N. Artamonova Н. А. Петрова Natalia A. Lyubimova N. Yu. Kolbina Alexander V. Bryzzhin

It is known that the SARS-CoV-2 virus may cause neurologic damage. Rapid-onset obesity, hypoventilation, hypothalamus dysfunction, and autonomic dysregulation (ROHHAD) syndrome is a disease of unknown etiology with a progressive course and unclear outcomes. The etiology of ROHHAD syndrome includes genetic, epigenetic, paraneoplastic, and immune-mediated theories, but to our knowledge, viral-associated cases of the disease have not been described yet. Here we present the case of a 4-year-old girl who developed a ROHHAD syndrome-like phenotype after a COVID-19 infection and the results of 5 months of therapy. She had COVID-19 pneumonia, followed by electrolyte disturbances (hypernatremia and hyperchloremia), hypocorticism and hypothyroidism, central hypoventilation-requiring prolonged assisted lung ventilation-bulimia, and progressive obesity with hypertriglyceridemia, dyslipidemia, hyperuricemia, and hyperinsulinemia. The repeated MRI of the brain and hypothalamic-pituitary region with contrast enhancement showed mild post-hypoxic changes. Prader-Willi/Angelman syndrome as well as PHOX2B-associated variants was ruled out. Treatment with non-steroidal anti-inflammatory drugs and monthly courses of intravenous immunoglobulin led to a dramatic improvement. Herein the first description of ROHHAD-like syndrome is timely associated with a previous COVID-19 infection with possible primarily viral or immune-mediated hypothalamic involvement.

Etiology

Obesity hypoventilation syndrome

10.3389/fped.2022.854367

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Citations (7)

P1597Two novel mutations in SCN5A gene cause enhanced inactivation and lead to Brugada syndrome

European Heart Journal (2019)

Anastasia K. Zaytseva A V Karpushev A V Karpushev Y Fomicheva Y Fomicheva

Abstract Background Mutations in gene SCN5A, encoding cardiac potential-dependent sodium channel Nav1.5, are associated with various arrhythmogenic disorders among which the Brugada syndrome (BrS) and the Long QT syndrome (LQT) are the best characterized. BrS1 is associated with sodium channel dysfunction, which can be reflected by decreased current, impaired activation and enhanced inactivation. We found two novel mutations in our patients with BrS and explored their effect on fast and slow inactivation of cardiac sodium channel. Purpose The aim of this study was to investigate the effect of BrS (Y739D, L1582P) mutations on different inactivation processes in in vitro model. Methods Y739D and L1582P substitutions were introduced in SCN5A cDNA using site-directed mutagenesis. Sodium currents were recorded at room temperature in transfected HEK293-T cells using patch-clamp technique with holding potential −100 mV. In order to access the fast steady-state inactivation curve we used double-pulse protocol with 10 ms prepulses. To analyze voltage-dependence of slow inactivation we used two-pulse protocol with 10s prepulse, 20ms test pulse and 25ms interpulse at −100mV to allow recovery from fast inactivation. Electrophysiological measurements are presented as mean ±SEM. Results Y739D mutation affects highly conserved tyrosine 739 among voltage-gated sodium and calcium channels in the segment IIS2. Mutation L1582P located in the loop IVS4-S5, and leucine in this position is not conserved among voltage-gated channels superfamily. We have shown that Y739D leads to significant changes in both fast and slow inactivation, whereas L1582P enhanced slow inactivation only. Steady-state fast inactivation for Y739D was shifted on 8.9 mV towards more negative potentials compare with that for WT, while L1582P did not enhanced fast inactivation (V1/2 WT: −62.8±1.7 mV; Y739D: −71.7±2.3 mV; L1582P: −58.7±1.4 mV). Slow inactivation was increased for both substitutions (INa (+20mV)/INa (−100mV) WT: 0.45±0.03; Y739D: 0,34±0.09: L1582P: 0.38±0.04). Steady-state fast inactivation Conclusions Both mutations, observed in patients with Brugada syndrome, influence on the slow inactivation process. Enhanced fast inactivation was shown only for Y739D mutant. The more dramatic alterations in sodium channel biophysical characteristics are likely linked with mutated residue conservativity. Acknowledgement/Funding RSF #17-15-01292

HEK 293 cells

10.1093/eurheartj/ehz748.0356

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Arrhythmogenic Cardiomyopathy in 8-Year-Old Girl: Clinical Case. Difficult Path to Diagnosis

Педиатрическая фармакология (2024)

O. А. Kofeynikova Darya Yu. Alexeeva Evgeniya V. Characterova Anna Kostareva Е. С. Васичкина

This article describes the onset of arrhythmogenic cardiomyopathy, left-dominant form, in a pediatric patient that was initially regarded as dilated cardiomyopathy. This clinical case shows issues of the disease differential diagnosis and the need of complex approach to the patient’s examination including heart magnetic resonance imaging and molecular and genetic testing.

Dilated Cardiomyopathy

Girl

10.15690/pf.v20i6.2664

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