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Editorial

Cardiovascular Magnetic Resonance and Cardiovascular Computed Tomography in the Present and Future Cardiology

Modern non-invasive imaging techniques like cardiovascular computed tomography (CCT) and cardiovascular magnetic resonance (CMR) can diagnose and monitor a wide range of cardiovascular diseases with unprecedented accuracy and safety.^– With advances in the understanding of cardiovascular diseases and increasing availability of new and revolutionary therapies, detailed and quantitative information of disease stage have become crucial for the appropriate decision-making for each patient, which is one of the pillars of personalized medicine.

As an example, we can mention the high accuracy of CCT in the diagnosis and quantification of coronary atherosclerosis and stenosis ( ), and assessment of functional significance by the fractional flow reserve (FFR) technique. Considering recent knowledge of the role of characteristics of the plaque and the global burden of the atherosclerotic plaque involving the coronary tree on the prognosis of coronary artery disease (CAD), CCT has turned out to be a key tool in therapeutic decision making, be it for stenosis revascularization, be it for prevention of adverse cardiovascular events. Another example is the ability of CCT in monitoring the response of atherosclerotic plaques to advanced therapies, like those including PCSK9 inhibition by monoclonal antibodies or RNA interference.^{– , –}

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Editorial

Differences among Angiotensin Receptor Blockers (BRA) in the Treatment of Arterial Hypertension

José Geraldo Mill

Cardiovascular diseases (CVD) are the main cause of death and disability in Brazil, and arterial hypertension (AH) is the main risk factor for cardiovascular morbidity and mortality. Early diagnosis and correct treatment are priority actions to face the problem. The National Health Survey conducted by the Ministry of Health in 2013 (PNS-2013) determined the prevalence of AH by direct measurement of blood pressure (BP) and use of antihypertensive drugs in a representative sample of the Brazilian adult population. Prevalence of 32.3% (95%CI: 31.7 – 33.0) indicated nearly 50 million hypertensive patients. Around 70% depend on the Unified Health System (SUS) for both diagnosis and pharmaceutical care, an essential aspect of the Chronic Noncommunicable Diseases (NCD) plan.

According to the current guidelines, the initial treatment of AH should be carried out with general measures, including regular aerobic physical activity, reduction of salt intake, increased consumption of fruits and vegetables and weight reduction when obesity or overweight is present. These measures benefit everyone and not only hypertensive patients indeed. Even adopting these strategies, many patients still depend on the regular use of drugs to get high BP control. Thus, the use of these drugs shows great importance because, given the dimension of the problem, even small pressure reductions generate a positive impact for millions of individuals affecting the morbidity and mortality rates due to CVD. Thus, the search for effective treatments for BP control has paramount importance to adopt public policies in this area.

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Original Article

Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center

Marcília Sierro Grassi et al. Marília Montenegro Evelin Aline Zanardo Antonio Carlos Pastorino … Mayra Barros Dorna Chong Kim Marcelo Jatene Nana Miura Leslie Kulikowski Magda Carneiro-Sampaio

Abstract

Background

Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases.

Objective

The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations.

Methods

We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique.

Results

The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup.

Conclusion

This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.

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Editorial

What Does the Cardiologist Expect from the Echocardiogram in Amyloidosis?

Aristóteles Comte de Alencar Neto et al. Fabio Fernandes

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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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Editorial

The Unknown Risk of Familial Hypercholesterolemia in the Development of Atherosclerotic Cardiovascular Disease

Elizabeth do Nascimento et al. José Luiz de Brito Alves

Cardiovascular diseases (CVD) are recognized as the main causes of death in adulthood in the world.^, A number of factors, such as smoking, arterial hypertension, obesity, metabolic syndrome and hypercholesterolemia have been described as important risk factors in the development of CVD and premature death. Hypercholesterolemia can be classified as primary or secondary in origin. Primary hypercholesterolemia is due to genetically determined defects in lipid or lipoprotein metabolism; secondary hypercholesterolemia can be caused by inadequate lifestyle, diseases or medications.

Familial hypercholesterolemia (FH) is an autosomal-dominant disorder characterized by mutations in genes in the encoding of proteins involved in low-density lipoprotein (LDL) metabolism that occur in the presence of high plasma cholesterol and LDL levels associated with clinical signs of tendon xanthoma. FH is responsible for approximately 10% of cardiovascular events in people under 50 years of age.^– In FH, mutations may be present in the LDL receptor gene, in the gene-encoding Apoprotein B-100 or in autosomal recessive LDLRAP1 gene and in autosomal dominant familial hypercholesterolemia (HCHOLA3) variant of the PCSK9 gene. These mutations lead to an impairment in the apoprotein-receptor interaction and result in high plasma cholesterol, high LDL levels and risk of development of atherosclerotic disease.^,

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Artigo Original

Intima-media thickness in the origin of right subclavian artery as an early marker of cardiovascular risk

Carlos Alberto Engelhorn et al. Ana Luiza Engelhorn Maria Fernanda Cassou Cassiana Casagrande Zanoni … Carlos José Gosalan Emerson Ribas Adriana Pacholok Marcela de Fátima Koehler

OBJECTIVE: Common carotid artery intima-media thickness (IMT) is considered a factor of cardiovascular risk and an early marker of coronary artery disease. This study aimed to investigate the existence of a correlation between IMT in the carotid arteries and at the origin of the right subclavian artery, as well as to evaluate IMT in the subclavian artery as an earlier marker of cardiovascular risk. METHODS: One hundred and six consecutive patients, 52 males and 54 females, average age 51 years, underwent color Doppler ultrasonography to evaluate carotid and right subclavian arteries. The relationship between carotid IMT and right subclavian IMT was assessed using the Pearson’s correlation coefficient analysis and a 95% confidence interval. Reliability of right subclavian artery IMT measurement for the diagnosis of early thickening (considering a > 0.8 mm carotid thickness as reference) was described as to sensitivity, specificity, positive predictive value, negative predictive value, and accuracy. Cut-off values for the right subclavian IMT were indicated by the ROC curve, and p values 0.8 mm. The mean IMT value for the carotid artery was 0.87 mm (SD = 0.23) and for the subclavian artery, 1.17 mm (SD = 0.46), with a 0.31 correlation coefficient (95% CI: 0.12; 0.47). The ROC curve analysis indicated a cut-off value of 0.7 mm for the right subclavian artery IMT, using as reference a 0.8 mm cut-off value for the carotid artery (91% sensitivity, 27% specificity, 66% PPV, 65% NPV, and 66% accuracy). CONCLUSION: Our study showed that carotid artery IMT correlates well with right subclavian artery IMT. With a 0.7 mm cut-off value, it is possible to detect IMT in the right subclavian artery earlier than in the carotid arteries. The IMT at the origin of the right subclavian artery can be considered an earlier marker for the assessment of cardiovascular risk.

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