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1. Phenotypes of mutations related to voltage‐dependent sodium channels on children and adolescents.

Author

Ferreira, Andressa Coelho, Dias‐Filho, Carlos Alberto Alves, de Jesus Silva Soares Junior, Nivaldo, Dias, Carlos José, Monteiro, Sally Cristina Moutinho, Andrade, Rafael Martins, and Mostarda, Cristiano Teixeira

Subjects
SODIUM channels, SYNCOPE, ARRHYTHMIA, BRUGADA syndrome, TEENAGERS, CARDIAC arrest, VENTRICULAR arrhythmia
Abstract

Cardiac channelopathies are a heterogeneous group of inherited cardiac diseases that are associated with mutations in the genes that encode the expression of cardiac ion channels. In view of this, it can be mentioned that the main hereditary arrhythmias in children and adolescents, caused by dysfunction of the ion channels, are Brugada Syndrome (BrS) and Long QT Syndrome (LQTS). However, few studies address the physiological effects of these conditions on children and adolescents. Thus, the aim of this study is to describe the mutation phenotype related to voltage‐gated sodium channels in children and adolescents. A search was performed in the literature of PubMed, Scielo, and Google scholar. The search was limited to articles written in the last 5 years, so articles published between 2014 and 2019 were included. Among 2196 studies identified through a systematic literature review, 30 studies related to the theme were identified for a complete review and after applying exclusion criteria, 4 articles were included in the results of this study. As the most frequently observed channelopathy, BrS was also more identified in children and adolescents, characterized by episodes of syncope or sudden cardiac death. LQTS shows clinical manifestations with a mild phenotype and good prognosis, although it is necessary to monitor and correct serum electrolyte disturbances to prevent ventricular arrhythmias and, consequently, sudden death in patients with the pathology. The aim of this study is to find the general phenotypes related to genetic mutations of voltage‐gated sodium channels, in a population aged from 7‐ to 14‐year‐old. [ABSTRACT FROM AUTHOR]

Published
2022
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2. Influence of family history of hypertension and polymorphism of the angiotensin converting enzyme (RS1799752) in autonomic modulation heart disease in adolescents

Author

DIAS FILHO, Carlos Alberto Alves, MOSTARDA, Cristiano Teixeira, MONTEIRO, Sally Cristina Moutinho, VIDAL, Flavia Castello Branco, RIBEIRO, Rachel Melo, CASTOLDI, Robson Chacon, and NASCIMENTO, Maria do Desterro Soares Brandão

Subjects
Arterial hypertension, Polymorphism on SRAA and autonomic nervous system, Ciências da Saúde, Hipertensão arterial, Adolescents, Adolescente, Polimorfismo no SRAA e sistema nervoso autonômico
Abstract

Submitted by Daniella Santos (daniella.santos@ufma.br) on 2019-02-08T17:35:59Z No. of bitstreams: 1 CarlosDiasFilho.pdf: 1848381 bytes, checksum: 50cac3dc68235440b18cba4d3c1f0fb2 (MD5) Made available in DSpace on 2019-02-08T17:35:59Z (GMT). No. of bitstreams: 1 CarlosDiasFilho.pdf: 1848381 bytes, checksum: 50cac3dc68235440b18cba4d3c1f0fb2 (MD5) Previous issue date: 2018-10-16 CAPES Introduction: Systemic arterial hypertension is a chronic-degenerative disease with multifactorial origin and characterized by elevated and sustained levels of blood pressure (BP), increasing risk for cardiovascular diseases. Some environmental and genetic factors have a strong impact on the prevalence of this morbidity. Besides these factors, exist the autonomic imbalance. The autonomic imbalance is recognized as one of the main causes of systemic arterial hypertension. However, few studies have explored the impact of the presence of angiotensin converting enzyme gene polymorphism and family history of hypertension on autonomic dysfunction in adolescents. Aim: To analyze the autonomic modulation of adolescents with family history of hypertension and the participation of the angiotensin converting enzyme gene polymorphism. Materials and Methods: The sample consisted of 141 adolescents with mean ages of 14.89 ± 1,64 years, students of a public schools of São Luís, Maranhão. The students were divided in offspring of hypertensive parents group (OHP) and offspring normotensive parents group (ONP). Then, an electrocardiogram for posterior analysis of heart rate variability was performed, blood pressure collects, anthropometric measures, oral mucosal cells collect, and posteriorly genotyping and statistical analysis. Results: The main finding of this study was the reduction of vagal action in the OHP group in relation to the ONP group, both presenting the DD genotype. The results showed changes in the variables: Weight (kg): 52.07 ± 9.38 vs. 58.35 ± 10 , 53; BMI (kg / m²): 20.01 ± 2.76 vs. 22.34 ± 4.30; WC (cm): 67.44 ± 6.94 vs. 72.01 ± 8.18; HR (bpm): 78.90 ± 12.73 vs. 84.84 ± 9.99; Var RR (ms²): 2408 ± 212 vs. 1182 ± 819; | LF (ms²): 1463 ± 1448 Vs. 802 ± 851; LF (%): 43 ± 16 vs. 54 ± 16; HF (%): 57 ± 16 vs. 46 ± 16; RMSSD (ms): 51 ± 26 Vs. 40 ± 20 and SD1 (ms): 39 ± 21 vs. 29 ± 14. Differences were also found when compared only the groups FPH vs. FPN on the variables %fat (%): 23.60 ± 8.33 vs. 26.33 ± 7.08; SBP (mmHg): 109.22 ± 11.32 vs. 114.62 ± 11.49; HR (bpm): 78.92 ± 12.85 vs. 83.53 ± 12.30; LF (%): 43.63 ± 15.25 vs. 48.60 ± 17.14; HF (%): 57.36 ± 15.25. Significant differences were also found when divided FPH DD + DI vs. FPN DD + DI in BMI (kg / cm²): 20.30 ± 3.35 vs. 22.05 ± 4.23; SBP (mmHg): 109.52 ± 11.49 vs. 114.54 ± 11.35; LF (%): 43.66 ± 15.90 vs. 50.49 ± 17.38 and HF (%): 56.33 ± 15.90 vs. 49.47 ± 17.37. Conclusion: Adolescents with DD genotype and family history of arterial hypertension present minor cardiac autonomic modulation as a predictive factor of pathophysiological changes of the disease. Introdução: A hipertensão arterial sistêmica é uma doença crônico-degenerativa com origem multifatorial e características de níveis elevados e sustentados de pressão arterial (PA), aumentando risco para doenças cardiovasculares. Alguns fatores ambientais e genéticos exercem forte impacto sobre a prevalência desta doença. Além destes fatores, existe o desequilíbrio autonômico, reconhecido como um dos principais causadores da hipertensão arterial sistêmica. Entretanto poucos trabalhos têm estudado o impacto da presença do polimorfismo do gene da enzima conversora de angiotensina e história familiar de hipertensão na disfunção autonômica em adolescentes. Objetivo: Analisar a modulação autonômica de adolescentes com histórico familiar de hipertensão e a participação do polimorfismo do gene da enzima conversora da angiotensina. Materiais e Métodos: A amostra consistiu-se de 141 adolescentes entre 14,89 ± 1,64 anos de idade, estudantes de escolas públicas de São Luís, Maranhão. Que foram divididos em filhos de pais hipertensos (FPH) e filhos de pais normotensos (FPN). Em seguida foi feito o eletrocardiograma para posterior analise da variabilidade da frequência cardíaca, aferição da pressão arterial, medidas antropométricas, coleta das células orais, posteriormente a genotipagem da enzima conversora da angiotensina e análise estatística. Resultados: O principal achado deste estudo foi a diminuição da ação vagal no grupo FPH com o genótipo DD em relação ao grupo FPN com o genótipo DD, apresentando alterações nas variáveis Peso (Kg): 52,07 ± 9,38 vs. 58,35 ± 10,53; IMC (Kg/m²): 20,01 ± 2,76 vs. 22,34 ± 4,30; CC (cm): 67,44 ± 6,94 vs. 72,01 ± 8,18; FC (bpm): 78,90 ± 12,73 vs. 84,84 ± 9,99; Var RR(ms²): 2408±212 vs. 1182±819; |BF(ms²):1463±1448 vs. 802±851; BF(%):43±16 vs. 54±16; AF(%): 57±16 vs. 46±16; RMSSD (ms): 51±26 vs. 40±20; SD1(ms): 39±21 vs. 29±14. Também foi encontrado diferenças quando relacionados somente FPH vs. FPN, nas variáveis de % gordura (%): 23,60 ± 8,33 vs. 26,33 ± 7,08; PAS (mmHg): 109,22 ± 11,32 vs. 114,62 ± 11,49; FC (bpm): 78,92 ± 12,85 vs. 83,53 ± 12,30; BF (%): 43.63 ± 15.25 vs. 48.60 ± 17.14; AF(%): 57.36 ± 15.25. valores diferentes também foram encontrados quando divididos FPH DD+DI vs. FPN DD+DI em IMC (kg/cm²): 20,30 ± 3,35 vs. 22,05 ± 4,23; PAS (mmHg): 109,52 ± 11,49 vs. 114,54 ± 11,35; BF (%): 43,66 ± 15,90 vs. 50,49 ± 17,38; AF (%): 56,33 ± 15,90 vs. 49,47 ± 17,37. Conclusão: Os resultados mostram que os adolescentes com genótipo DD e histórico familiar de hipertensão arterial apresentam modulação autonômica menor como fator preditivo de alterações fisiopatológicas da hipertensão arterial.

Published
2018

3. The effect of family history of hypertension and polymorphism of the ACE gene (rs1799752) on cardiac autonomic modulation in adolescents.

Author

Dias‐Filho, Carlos Alberto Alves, Soares, Nivaldo de Jesus Silva, Bomfim, Maria Rosa Quaresma, José Dias, Carlos, Vidal, Flavia Castello Branco, Magalhães, Bruna Cruz, Ferreira, Andressa Coelho, Monteiro, Sally Cristina Moutinho, Salvador, Emanuel Péricles, Barros, Carlos Castilho, Correia, Poliana Espíndola, Rodrigues, Bruno, and Mostarda, Cristiano Teixeira

Subjects
*HYPERTENSION, *FAMILY history (Medicine), *GENETIC polymorphisms, *TEENAGERS, *HEART beat, *AUTONOMIC nervous system, *PARASYMPATHETIC nervous system, *VAGAL tone
Abstract

This study aims to analyze the behaviour of cardiac autonomic modulation in adolescents with a family history of hypertension along with polymorphism of the ACE gene (rs1799752). The study involved 141 adolescents, with a mean age of 14.89, divided into the following six groups: offspring of normotensive parents (ONP): DD, DI and II; and offspring of hypertensive parents (OHP): DD, DI and II. Blood pressure, body composition, family history of hypertension, sleep disorder, and sexual maturation were assessed for the groups' characterization. Afterwards, an electrocardiogram was performed, and oral mucosal cells were collected to analyze heart rate variability and genotypic research of angiotensin‐converting enzyme. The main finding of this study was the decrease of vagal action in group OHP (genotype DD) relative to group ONP (genotype II): LF (%), 54.25 ± 3.14 vs 39.33 ± 3.80; HF (%), 45.74 ± 3.14 vs 60.66 ± 3.80; LF/HF, 1.48 ± 0.23 vs 0.68 ± 0.19. The results also showed changes in the variable diastolic blood pressure (DBP) in OHP (genotype DI) to ONP (genotype II) groups: 72.99 ± 2.33 vs 63.27 ± 1.72; and OHP (genotype DI) to ONP (genotype DD) groups. Adolescents with genotype DD and a family history of arterial hypertension present chances in cardiac autonomic modulation, the cardiac parasympathetic modulation is lower in these adolescents in comparison to participants of ONP + II group. [ABSTRACT FROM AUTHOR]

Published
2021
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