Heredity – ABC CARDIOL

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Editorial

How Can We Favorably Modulate Serum Uric Acid?

Luiza Antoniazzi et al. Laís Ferreira Dias

The study “Impact of Serum Uric Acid Concentration on the Risk of Cardiovascular Disease: A Cohort Study Conducted in Northern China”, carried out with a cohort of middle-aged Chinese, discusses the influence of uric acid on cardiovascular outcomes. The study showed that serum uric acid was a risk factor for cardiovascular disease in middle-aged and elderly people in northern China.

Findings about this association are controversial. It has been proven in previous studies.^–

[…]

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Original Article

Prevalence and Related Characteristics of Patients with Brugada Pattern Electrocardiogram in Santa Catarina, Brazil

Mariana Sarmento Militz et al. Andrei de Souza Inacio Harley Miguel Wagner Aldo von Wangenheim … Alexander Romeno Janner Dal Forno Daniel Medeiros Moreira

Abstract

Background:

Brugada Syndrome is an inherited arrhythmogenic disorder characterized by the presence of specific electrocardiographic features with or without clinical symptoms. The patients present increased risk of sudden death due to ventricular fibrillation. The prevalence of this electrocardiographic pattern differs according to the studied region. However, epidemiological information including the Brazilian population is scarce.

Objectives:

To assess the prevalence of the electrocardiographic pattern of Brugada syndrome and the epidemiological profile associated with it.

Methods:

Cross-sectional study that included 846,533 ECG records of 716,973 patients from the electrocardiogram (ECG) database from the Santa Catarina Telemedicine Network over a 4-year period. All tests were 12-lead conventional ECG (without V1 and V2 in high positions). The tests revealing “Brugada Syndrome” diagnosis (Types 1 and 2) were reviewed by a cardiac electrophysiologist. The level of significance was set at p<0.05.

Results:

In total, 83 patients had a pattern potentially consistent with Brugada-type pattern ECG. Of these, 33 were confirmed having Brugada-type 1, and 22 with type 2 ECG after reevaluation. The prevalence of Brugada-type 1 ECG was 4.6 per 100,000 patients. Brugada-type 1 ECG was associated with the male gender (81.8% vs. 41.5%, p<0.001) and a lower prevalence of obesity diagnosis (9.1% vs. 26.4%, p=0.028).

Conclusions:

This study showed low prevalence of Brugada-type ECG in Southern Brazil. The presence of Brugada-type 1 ECG was associated with the male gender and lower prevalence of obesity diagnosis comparing to the general population.

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Original Article

Exercise Testing, Family History, and Subclinical Atherosclerosis Markers for Cardiovascular Risk Reclassification in Middle-Aged Women

Ricardo Quental Coutinho et al. Ulisses Ramos Montarroyos Isly Maria Lucena de Barros Maria José Bezerra Guimarães … Ana Paula Dornelas Leão Laura Olinda Bregieiro Fernandes Costa Ana Kelley de Lima Medeiros Maria de Fátima Monteiro Moacir de Novaes Lima Ferreira William Azem Chalela Rodrigo Pinto Pedrosa

Abstract

Background

Cardiovascular diseases are the main cause of death in women and the accuracy of currently available risk scores is questionable.

Objective

To reclassify the risk estimated by the Framingham Risk Score (FRS) in asymptomatic middle-aged women by incorporating family history, exercise testing variables, and subclinical atherosclerosis markers.

Methods

This cross-sectional study included 509 women (age range, 46-65 years) without cardiovascular symptoms. Those at low or intermediate risk by the FRS were reclassified to a higher level considering premature family history of acute myocardial infarction and/or sudden death; four variables from exercise testing; and two variables related to subclinical atherosclerosis markers. The homogeneity of these variables according to the FRS was verified by Pearson chi-square test (p<0.05).

Results

According to the FRS, 80.2%, 6.2%, and 13.6% of the women were classified as low (10%) risks, respectively. The intermediate-risk stratum showed the highest increase (from 6.2% to 33.3%) with addition of family history; followed by addition of chronotropic index <80% (to 24.2%); functional capacity 0 (20.6%); decreased one-minute heart rate recovery ≤12 bpm (15.2%); carotid intima-media thickness >1 mm and/or carotid plaque (13.8%) and ST-segment depression (9.0%). The high-risk stratum increased to 14.4% with the addition of reduced heart rate recovery and to 17.1% with the coronary calcium score.

Conclusion

Incorporation of premature family history of cardiovascular events, exercise testing abnormal parameters, and subclinical atherosclerosis markers into the FRS led to risk reclassification in 3.0-29.7% of asymptomatic middle-aged women, mainly by an increase from low to intermediate risk.

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Original Article

Factors Associated with the Occurrence of Arterial Hypertension in Industry Workers of State of Rio Grande do Sul, Brazil

Paula Brustolin Xavier et al. Anderson Garcez Gabriela Herrmann Cibeira Antonino Germano Maria Teresa Anselmo Olinto

Abstract

Background

Hypertension is a serious and persistent public health problem and is one of the main causes of cardiovascular diseases and general mortality.

Objectives

This study aimed to verify the prevalence and factors associated with systemic arterial hypertension in workers from the state of Rio Grande do Sul, Brazil.

Methods

This is a cross-sectional study using the secondary data from 20,792 industry workers from 18 to 59 years of age. The presence of arterial hypertension was determined from systolic blood pressure ≥ 140mmHg and/or diastolic blood pressure ≥ 90mmHg or taking antihypertensive medication. Factors investigated included demographic, socioeconomic, behavioral, nutritional status, and family history characteristics. Poisson regression was used in multivariate analysis, adopting a significance level of p<0.05. All analyses were stratified by sex.

Results

The sample included 12,349 men and 8,443 women with a mean age of 32.8 years (Standard Deviation = 9.8). The prevalence of arterial hypertension was 10.3% (95% CI: 9.8-10.7), which was significantly higher in men than in women (10.9% vs 9.4%; p = 0.001). Arterial hypertension was associated with increased age, a low level of education, living with a partner, being overweight or obese, and having at least one relative with a history of hypertension for both sexes. Women with better socioeconomic conditions presented a lower prevalence of hypertension.

Conclusions

The main factors associated with hypertension included sociodemographic, nutritional, and family history characteristics. In addition, socioeconomic conditions showed an association with the occurrence of hypertension, especially among women.

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Original Article

Macroscopic Evaluation of Atherosclerosis in the Arteries: An Autopsy Assessment Tool

Mariana Silva Oliveira et al. Bianca Gonçalves Silva Torquato Maria Helena Soares Maria Luiza Gonçalves dos Reis Monteiro … Guilherme Ribeiro Juliano Laura Sanches Aguiar Vicente de Paula Antunes Teixeira Mara Lúcia da Fonseca Ferraz

Abstract

Background

Atherosclerosis, in some cases, is an asymptomatic condition, and it is important to know the degree of arterial impairment caused by plaques and its association with risk factors. Autopsy examination provides understanding of basic disease processes and assessment to data about macroscopic characteristic of atherosclerotic involvement.

Objective

To macroscopically assess and standardize atherosclerotic involvement of aorta, carotid and iliac arteries and compare with age, gender and causes of death.

Methods

We collected 53 aortic arteries, 53 right carotid arteries, 53 left carotid arteries, 53 right iliac arteries and 53 left iliac arteries. For this assessment, the extension of fatty streaks, atheromatous plaques, fibrosis and calcification were considered, being the reference to score the degree of atherosclerotic involvement. Many degrees of atherosclerosis and accurate values were observed for mild, moderate and severe classification. For statistical analysis, data were analyzed using the software GraphPad Prism® 7.0. Differences were considered statistically significant if p-value was less than 5% (p <0.05).

Results

Carotid arteries had greater atherosclerotic involvement compared to the other arteries (K = 15.73, p = 0.0004). Atherosclerosis was progressive and significant with increasing age (carotid arteries: t = 6.321; p <0.0001; aorta: U = 83.5; p <0.0001; iliac: U = 306; p <0.0001) and as cause of cardiovascular death (carotids: t = 5.047; p <0.0001; aorta: U = 98.5; p = 0.0068; iliac: U = 467.5; p = 0.0012).

Conclusion

Macroscopic assessment of atherosclerosis is an innovative and low-cost way of direct visualization of atherosclerotic plaques, enabling an association with risk factors such as increasing age and cardiovascular diseases, providing important data for clinical practice.

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Original Article

The Role of Cardiovascular Risk Factors and Risk Scoring Systems in Predicting Coronary Atherosclerosis

Suat Gormel et al. Uygar Cagdas Yuksel Murat Celik Salim Yasar … Erkan Yildirim Baris Bugan Yalcin Gokoglan Hasan Kutsi Kabul Salim Yasar Mustafa Köklü Cem Barçın

Abstract

Background

Comparative data on the performance of cardiovascular risk scoring systems (CRSSs) in patients with severe coronary artery disease (CAD) are lacking.

Objectives

To compare different CRSSs regarding their ability to discriminate patients with severe CAD.

Method

A total of 414 patients (297 men; 61.3±12.3 years of age) undergoing coronary angiography were enrolled and evaluated for major risk factors. Cardiovascular risk and risk category were defined for each patient using the Framingham, Systemic Coronary Risk Evaluation (SCORE), and Pooled Cohort Risk Assessment Equation (PCRAE) tools. Severe CAD was defined as ≥ 50% stenosis in at least one major coronary artery and/or previous coronary stenting or coronary artery bypass grafting. A p < 0.05 was considered statistically significant.

Results

Severe CAD was identified in 271 (65.4%) patients. The ROC curves of the 3 CRSSs for predicting severe CAD were compared and showed no significant difference: the area under the ROC curve was 0.727, 0.694, and 0.717 for the Framingham, SCORE, and PCRAE tools, respectively (p > 0.05). However, when individual patients were classified as having low, intermediate, or high cardiovascular risk, the rate of patients in the high-risk group was significantly different between the PCRAE, Framingham, and SCORE tools (73.4%, 27.5%, and 37.9%, respectively; p < 0.001).

Discussion

PCRAE had higher positive and negative predictive values for detecting severe CAD in high-risk patients than the Framingham and SCORE tools.

Conclusion

We can speculate that currently used CRSSs are not sufficient, and new scoring systems are needed. In addition, other risk factors, such as serum creatinine, should be considered in future CRSSs. Int J Cardiovasc Sci. 2020; [online].ahead print, PP.0-0

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Review Article

Pharmacogenomics and Cardiovascular Disease: Where are We and Where do We go from Here?

Ricardo Stein et al. Thaís Beuren Luis Ramudo Cela Filipe Ferrari

Introduction, the DNA and the Genes

Pharmacogenomics (PGx) is the science of understanding the interaction between genes and drugs. The analysis of specific areas of the DNA provides information about a certain drug metabolism and about the expected response to a certain treatment. PGx also aims to reduce the incidence of adverse drug events (ADEs).^, Many studies in this area have focused on the identification of genes that predispose to diseases, modulate drug response, affect drug concentration and correlate with adverse effects of patients exposed to different types of drugs, so the desired therapeutic benefit is achieved.

The causes of individual responses to a same drug dosage include age, genetic and immunological factors, comorbidities and interaction between active principles. Genetic variability may influence not only pharmacodynamics, but also pharmacokinetics, which studies the relationship of the absorption, metabolism and excretion of the drug to its systemic concentration.

[…]

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Original Article

Discrepancy between International Guidelines on the Criteria for Primary Prevention of Sudden Cardiac Death in Hypertrophic Cardiomyopathy

Beatriz Piva e Mattos et al. Fernando Luís Scolari Henrique Iahnke Garbin

Abstract

Background

Risk stratification for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) is based on different algorithms proposed by the 2011 ACCF/AHA and 2014 ESC guidelines.

Objective

To analyze the 2014 ESC model for SCD risk stratification and primary prevention ICD (implantable cardioverter defibrillator) in HCM in comparison to the North American guideline.

Methods

An HCM cohort was evaluated and the ESC HCM-Risk SCD score was calculated. Agreement of ICD recommendations criteria between the two guidelines was analyzed with Kappa coefficient. P<0.05 was adopted for the statistical analysis.

Results

In 90 consecutive patients followed for 6±3 years, the mean calculated ESC risk score was 3.2±2.5%. The risk predictors that have mainly contributed to the score calculation in the low (1.88% [1.42–2.67]), intermediate (5.17% [4.89–5.70]) and high-risk (7.82% [7.06–9.19]) categories were: maximal left ventricular wall thickness (1.60% [1.25–2.02]; 3.20% [3.18–3.36]; 4.46% [4.07–5.09]), left atrial diameter (0.97% [0.83–1.21]; 1.86% [1.67-2.40]; 2.48% [2.21–3.51]) and age (-0.91% [0.8–1.13]; -1.90% [1.12–2.03]; -2.34% [1.49–2.73]). The European model decreased the ICD recommendations in 32 (36%) patients. Among the 43 (48%) individuals with class IIa recommendation under the 2011 ACCF/AHA guideline, 8 (18%) were downgraded to class IIb and 24 (56%) to class III. Low agreement was found between the two systems: Kappa=0.355 and p=0.0001. In 8 (9%) patients with SCD or appropriate shock, 4 (50%) met class IIa indication with the 2011 ACCF/AHA guideline, but none achieved this class of recommendation with the 2014 ESC model.

Conclusion

Low agreement was found between the two strategies. The novel ESC model decreased the ICD recommendations, especially in those with class IIa recommendation, but left unprotected all patients with SCD or appropriate shock. (Arq Bras Cardiol. 2020; 115(2):197-204)

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Editorial

Not Everything that Shines is Calcium

Ilan Gottlieb et al. Fernanda Erthal

Coronary calcification is involved in the pathophysiological process of atherosclerosis, particularly at later stages of the disease, as part of its healing process. In fact, calcification is not required for plaque development or progression, or luminal obstruction, or even for the development of cardiovascular events – these processes, in addition to plaque instability is commonly seen. Our group showed, in a randomized clinical trial on symptomatic patients, that 20% of vessels with complete obstructions in invasive angiography had no calcification according to calcium scoree, corroborating histopathological studies that demonstrated the absence of calcification in a considerable number of the coronary plaques evaluated. Understanding or the pathophysiology of coronary disease is essential to contextualize calcium score in population studies.

These studies, however, have shown some controversial results on the rates of cardiovascular events and obstructive lesions. The reason for this apparent divergence of results is the study population. Asymptomatic patients with zero calcium score are different from symptomatic ones without calcification, who in turn, are different from patients with history of early coronary disease, diabetics or smokers with zero calcium score.

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Original Article

Peripheral Vascular Resistance Impairment during Isometric Physical Exercise in Normotensive Offspring of Hypertensive Parents

Natália Portela et al. Josária Ferraz Amaral Pedro Augusto de Carvalho Mira Livia Victorino de Souza … Daniel Godoy Martinez Mateus Camaroti Laterza

Abstract

Background:

A family history of hypertension is associated with vascular and autonomic abnormalities, as well as an impaired neurohemodynamic response to exercise.

Objective:

To test the hypothesis that normotensive individuals with a family history of hypertension present an impaired peripheral vascular resistance response to exercise.

Methods:

The study included 37 normotensive volunteers of both sexes who were sedentary, eutrophic, and nonsmokers, comprising 23 with (FH+; 24 ± 3 years) and 14 without (FH-; 27 ± 5 years) a family history of hypertension. Blood pressure, heart rate (DIXTAL®), forearm blood flow (Hokanson®), and peripheral vascular resistance were simultaneously measured for 3 minutes during rest and, subsequently, for 3 minutes during an isometric exercise at 30% of maximal voluntary contraction (Jamar^®).

Results:

At rest, the FH+ and FH- groups present similar mean blood pressure (83 ± 7 versus 83 ± 5 mmHg, p = 0.96), heart rate (69 ± 8 bpm versus 66 ± 7 bpm, p = 0.18), forearm blood flow (3 ± 1 mL/min/100 mL versus 2.7 ± 1 mL/min/100 mL, p = 0.16), and peripheral vascular resistance (30 ± 9 units versus 34±9 units, p = 0.21), respectively. Both groups showed a significant and similar increase in mean blood pressure (∆ = 15 ± 7 mmHg versus 14 ± 7 mmHg, p = 0.86), heart rate (∆ = 12 ± 8 bpm versus 13 ± 7 bpm, p = 0.86), and forearm blood flow (∆ = 0.8 ± 1.2 mL/min/100 mL versus 1.4 ± 1.1 mL/min/100 mL, p = 0.25), respectively, during exercise. However, individuals in the FH+ group showed no reduction in peripheral vascular resistance during exercise, which was observed in the FH- group (∆ = -0.4 ± 8.6 units versus -7.2 ± 6.3 units, p = 0.03).

Conclusion:

Normotensive individuals with a family history of hypertension present an impaired peripheral vascular resistance response to exercise.

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Review Article

Genetic Evaluation, Familial Screening and Exercise

Ricardo Stein et al. Juan Pablo Trujillo Anderson Donelli da Silveira Arsonval Lamounier Júnior Lorenzo Monserrat Iglesias

Introduction

Regular physical activity practice benefits individuals of all ages, sexes and ethnicities. If on one hand the practice of moderate exercise is considered a healthy activity that favors the cardiovascular system, on the other, high-intensity exercise for a long period can increase the risk for sudden death (SD). Even considering the huge number of individuals exercising daily, SD in that context is rare. However, the prevention of SD can be difficult and it has significant repercussion, mainly among young practitioners of leisure exercise or athletes. From the epidemiological viewpoint, cardiac SD affects 200,000 to 400,000 individuals in the United States of America (USA) annually. In the sports scenario, around 200 athletes per year are estimated to have a fatal event. In Spain, the national registry of SD in athletes reported 180 cases from 1995 to 2007, suggesting an incidence of 15 to 20 cases per year.

For athletes, preparticipation evaluation (PPE) is indicated, and can be effective in preventing cardiac SD in that context. However, that type of screening has great variability between different countries and entities that perform it. In the sports context, genetic evaluation is performed only in specific cases.

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Brief Communication

Compound Heterozygous SCN5A Mutations in a Toddler – Are they Associated with a More Severe Phenotype?

Luciana Sacilotto et al. Hindalis Ballesteros Epifanio Francisco Carlos da Costa Darrieux Fanny Wulkan … Theo Gremen Mimary Oliveira Denise Tessariol Hachul Alexandre da Costa Pereira Mauricio Ibrahim Scanavacca

Abstract

Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death.

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Original Article

Genetic and Environmental Effects on the Abdominal Aortic Diameter Development

Adam Domonkos Tarnoki et al. David Laszlo Tarnoki Levente Littvay Zsolt Garami … Kinga Karlinger Viktor Berczi

Abstract

Background:

Configuration of the abdominal aorta is related to healthy aging and a variety of disorders.

Objectives:

We aimed to assess heritable and environmental effects on the abdominal aortic diameter.

Methods:

114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation.

Results:

Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively.

Conclusions:

Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.

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Artigo Original

Genetic factors in familial aggregation of blood pressure of portuguese nuclear families

Rogério César Fermino et al. André Seabra Rui Garganta José António Ribeiro Maia

BACKGROUND: Despite of the increase in the prevalence of hypertension in Portugal, the importance of genetic factors in blood pressure (BP) has not been studied extensively in our country. OBJECTIVES: To verify the indirect presence of vertical transmission of genetic factors between parents and children in BP values, and to estimate the magnitude of genetic factors contributing for variation in BP values in the population. METHODS: Sample size comprises 367 individuals (164 parents and 203 children) pertaining the 107 nuclear families participating in “Familias Activas” project, proceeding from different regions of North Portugal. The BP was measured with Omron® model M6 (HEM-7001-E) digital device. SPSS 15.0 was used for data analysis; PEDSTATS was used to verify the structure of each family data. Familial correlations and heritability estimates were computed in FCOR and ASSOC modules of S.A.G.E. version 5.3. RESULTS: For systolic BP (SBP), correlation values were low to moderate (0,21< r <0,35); for diastolic BP (DBP) values were found to be moderate (0,24< r <0,50). Genetic factors explain 43 and 49% of the total variation in SBP and DBP, respectively. CONCLUSION: A moderate amount of the SBP and the DBP is accounted for by genetic factors.

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Case Report

Arrythmogenic right ventricular dysplasia

Rogério Ferreira da Silva et al. Karina Morgarbel Christian Moreno Luize Carla Gonçalves Rosa … Marcelo Romano Ieda Maria Liguori

Arritmogenic right ventricular dysplasia (ARVD) is characterized by the gradual replacement of myocytes by adipose and fibrous tissue. Described in 1977, is considered a potentially lethal cause of cardiac disease poorly understood. This disorder usually involves the right ventricle and has been associated with arrthymia, heart failure, and sudden death. In this paper, we report a case of a 25-years-old patient with syncope associated with ventricular extrasystoles. A magnetic resonance imaging was performed and showed findings that support ARVD diagnose.

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