Phenotype – ABC CARDIOL

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Editorial

The Importance of Identifying Phenotypes in Arterial Hypertension

Assessing blood pressure (BP) levels involves understanding the relationship between BP and overall health. This requires accurate measurement, following the criteria recommended in the guidelines, to determine the true meaning of the measurement in the office and beyond. Within this hypertensive spectrum, with measurements at varying times, we can define various hypertensive phenotypes and their significance for cardiovascular risk. This knowledge has accumulated over time and has been increasingly refined with the advancement of medical and technological knowledge.

The first experimental measurement of BP was made in 1711 by Stephen Halles using a cannula in the crural artery of a horse and connecting it to a glass tube that raised the blood two and a half meters above the height of the animal. However, arterial hypertension was only clinically valued in 1896 with the invention of the first mercury column sphygmomanometer by the Italian Scipione Riva-Rocci, using a 4.4 cm wide cuff.

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Original Article

Identification of Hypertension Phenotypes by Sex: A Real-World Study of 7,852 Treated Patients

Eduardo Costa Duarte Barbosa et al. Sérgio Kakuta Kato Audes Feitosa Marco Antonio Mota-Gomes … Roberto Dischinger Miranda Andréa Araujo Brandão Weimar Kunz Sebba Barroso Bruna Eibel

Abstract

Background

Although blood pressure (BP) thresholds are well established, there is a lack of data on potential hypertension phenotypes across sexes.

Objectives

To identify hypertension phenotypes in men and women undergoing antihypertensive treatment.

Methods

Adults aged 18 to 80 years with diagnosed hypertension and undergoing pharmacological treatment were opportunistically recruited from various regions of Brazil. Assessments included office BP measurements and home blood pressure monitoring (HBPM). Four hypertension phenotypes were defined: (i) controlled hypertension: office BP < 140/90 mmHg and HBPM < 130/80 mmHg; (ii) white-coat uncontrolled hypertension: office BP ≥ 140/90 mmHg and HBPM < 130/80 mmHg; (iii) masked uncontrolled hypertension: office BP < 140/90 mmHg and HBPM ≥ 130/80 mmHg; (iv) sustained uncontrolled hypertension: office BP ≥ 140/90 mmHg and HBPM ≥ 130/80 mmHg. A significance level of 5% (p < 0.05) was adopted.

Results

Among the 7,852 patients on antihypertensive therapy, 3,162 (40.3%) had controlled hypertension, including 1,115 (37.6%) men and 2,047 (41.9%) women (p < 0.001); 675 (8.6%) had white-coat uncontrolled hypertension, with 217 (7.3%) men and 458 (9.4%) women (p < 0.001); 1,605 (20.4%) had masked uncontrolled hypertension, including 645 (21.7%) men and 960 (19.7%) women (p < 0.001); and 2,410 (30.7%) had sustained uncontrolled hypertension, including 992 (33.4%) men and 1,418 (29%) women (p < 0.001).

Conclusions

This is the first Brazilian population-based study to assess hypertension phenotypes by sex. Women demonstrated better BP control than men, both in clinical settings and at home.

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ABCHF

Review Article

Genetics of the Cardiomyopathies: A Review for the Cardiologist

Fernando Luis Scolari et al. Henrique Iahnke Garbin Thais Mariel Andara Beuren Felipe Cerqueira Matheus … Ricardo Mourilhe-Rocha Marcelo Imbroinise Bittencourt

Abstract

Cardiomyopathies, myocardial diseases without other causative factors like hypertension or coronary artery disease, were once considered rare but have seen increased diagnoses due to improved imaging and clinical awareness. Recent categorizations based on predominant phenotypes, such as hypertrophic cardiomyopathy, dilated cardiomyopathy, non-dilated left ventricular cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy highlight their complexity. Phenotype characterization is challenging due to overlapping features among different cardiomyopathies, making genetic testing indispensable, offering insights into etiology, risks, and guiding treatments. Advancements in testing accessibility and standardized classification guidelines have facilitated early detection, enabling interventions like lifestyle modifications and targeted medication regimens to mitigate risks. Current guidelines recommend genetic testing for all cardiomyopathy patients. This review elucidates genetic variants underlying the distinct cardiomyopathies phenotypes, enabling accurate diagnoses and treatment.

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ABCHF

Review Article

Pediatric Cardiomyopathies: Establishing Genotype-Phenotype Relationship as a Determinant in Prognosis and Therapy: A Review of the Literature

Ana Flavia Malheiros Torbey et al. Aurea Lucia Alves de Azevedo Grippa de Souza Estela Azeka Maraisa Fachini Spada

Abstract

Cardiomyopathies constitute a heterogeneous group of diseases with varying etiologies and clinical presentation. Advances in genetic testing have made it possible to establish genotype-phenotype relationships, determine prognosis, and choose specific treatments in the pediatric population. Therefore, the objective of this review is to assist clinical reasoning and underscore the importance of etiological diagnosis in different disease phenotypes.

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Research Letter

[PARTIAL-RETRACTION] MINOCA Phenotypes – A Challenge for Patient-Specific Management

Sofiya Lypovetska

Abstract

Myocardial infarction with non-obstructive coronary arteries (MINOCA) is a puzzling clinical phenomenon with an unclear prognosis, characterized by evidence of myocardial infarction (MI) with normal or near-normal coronary arteries on angiography¹. Currently, there are no guidelines for management, and many patients are discharged without a determined etiology, often meaning that optimal treatment gets postponed.We report three MINOCA case studies with main pathophysiological cardiac causes, particularly epicardial, microvascular, and non-ischemic, prompting differential management. The patients presented with acute chest pain, troponin raise, and no angiographically significant coronary disease.In this study, we analyzed the etiology, clinical diagnosis, and treatment of MINOCA concerning the relevant literature.MINOCA is considered to be a dynamic working diagnosis, including coronary, myocardial, and non-coronary disorders. Prospective studies and registries are needed to improve patient care and outcome.

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IJCS

Case Report

Danon Disease in an Asymptomatic Woman: A Five-Year Follow Up

Ricardo Cardoso de Matos et al. Amanda Cunha Soares Raquel Tavares Boy da Silva Evandro Tinoco Mesquita

Introdução

Danon disease (DD) is a rare, dominant X-linked disease caused by mutation of the LAMP2 gene, which encodes a lysosome-associated membrane glycoprotein, thereby affecting lysosomal deposition. DD is characterized by a classic triad of cardiomyopathy (featured by hypertrophic cardiomyopathy [HC]), skeletal myopathy, and cognitive changes. While female patients tend to have milder phenotypic manifestations, an isolated cardiac involvement, in addition to a later onset of symptoms, without the need for heart transplantation before the fourth decade of life, male patients commonly have the presentation of the classic triad of disease.

The clues of the involvement of HC with pre-excitation and persistent increased troponin I in these individuals are related to the process of autophagy that contributes to cardiac remodeling. However, there is still no specific treatment for DD. The approach to cardiac manifestations includes implantable cardioverter defibrillator (ICD) and ablation to improve symptoms and decrease the risk of sudden death. In cases of advanced heart failure (HF), heart transplantation is an effective and safe measure. Studies for gene therapy are currently in progress.^,

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IJCS

Review Article

Kawasaki-Like Disease, a New Phenotype in Sars-CoV-2?

Beatriz Sordi Chara et al. Júlia Machado Rickli Caroline Figueiredo da Silva Gabriela Pomaleski … Rafael de March Ronsoni Marcus Vinícius Magno Gonçalves

Abstract

The coronavirus disease (COVID-19), that assumed pandemic proportions in March 2020, mainly affects the respiratory tract, causing severe interstitial pneumonia in adults. Worldwide data indicate that COVID-19 tends to be more benign in children, which is evidenced by a high incidence of asymptomatic or mild upper airways’ infection cases in this population. However, recent studies have been associating Kawasaki-like symptoms as a nonclassical presentation of coronavirus disease in pediatrics. It is suggested that the intense cytokine cascade, promoted by the SARS-CoV-2 infection, can trigger a multisystem inflammatory response as an atypical Kawasaki form in genetically predisposed individuals. In this context, patients may develop more severe clinical features with a greater predisposition to myocardial involvement, Macrophage Activation Syndrome, and Kawasaki Disease Shock Syndrome. Despite critical conditions, patients usually respond to conventional treatment of Kawasaki Disease with intravenous immunoglobulin. This article intends to provide an approach to the association between Kawasaki-Like Syndrome and COVID-19.

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IJCS

Review Article

Phenotype mapping of heart failure with preserved ejection fraction

Evandro Tinoco Mesquita et al. Debora Carvalho Grion Miguel Camargo Kubrusly Bernardo Barcelos Fernandes Fumagalli Silva Érico Araújo Reis Santos

Abstract

Heart failure with preserved ejection fraction (HFPEF) has become the main phenotypic model of heart failure (HF) in community and referral patients in Brazil and in the world. Despite advances in the development of new drugs for HF treatment, there has been no significant improvement in mortality of this condition.

According to many studies, this can be explained by the heterogeneous nature of HF physiopathology, whose basic mechanisms may result in different clinical presentations, culminating in the emerging of different phenogroups in this syndrome. In this context, phenotype mapping of HFPEF has emerged as a possible solution, since it enables the development of clinical trials that establish specific therapeutic strategies for each phenotypic profile.

New technologies in the field of artificial intelligence have enabled the assessment of a large volume of data and infer intrinsic patterns and different outcomes. Thereby, it is possible to obtain mutually exclusive categories of HFPEF, with a phenotype mapping of the syndrome and grouping of patients according to their phenotypic features. Besides, other diseases can have the same clinical phenotype but different pathophysiological basis, the so called “phenocopies”.

These tools enable the analysis and categorization of the wide spectrum of heart failure, contributing to solve the dilemmas of the treatment of this syndrome.

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Review Article

Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease?

Júlia Daher Carneiro Marsiglia et al. Alexandre Costa Pereira

Hypertrophic cardiomyopathy (HCM) is the most common monogenic genetic cardiac disease, with an estimated prevalence of 1:500 in the general population. Clinically, HCM is characterized by hypertrophy of the left ventricle (LV) walls, especially the septum, usually asymmetric, in the absence of any cardiac or systemic disease that leads to a secondary hypertrophy. The clinical course of the disease has a large inter- and intrafamilial heterogeneity, ranging from mild symptoms of heart failure late in life to the onset of sudden cardiac death at a young age and is caused by a mutation in one of the genes that encode a protein from the sarcomere, Z-disc or intracellular calcium modulators. Although many genes and mutations are already known to cause HCM, the molecular pathways that lead to the phenotype are still unclear. This review focus on the molecular mechanisms of HCM, the pathways from mutation to clinical phenotype and how the disease’s genotype correlates with phenotype.

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Artigo Original

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype

Sintia Iole Nogueira Belangero et al. Fernanda T.S. Bellucco Leslie Domenici Kulikowski Denise M. Christofolini … Mirlene C. S. P. Cernach Maria Isabel Melaragno

BACKGROUND: The 22q11.2 deletion syndrome is the most frequent human microdeletion syndrome. The phenotype is highly variable, being characterized by conotruncal heart defect, facial dysmorphisms, velopharyngeal insufficiency, learning difficulties and mental retardation. OBJECTIVE: The objective of this study was to investigate the frequency of deletion 22q11.2 in a Brazilian sample of individuals with isolated conotruncal heart defect and 22q11.2 deletion syndrome phenotype. METHODS: Twenty-nine patients were studied by classical cytogenetics, by fluorescence in situ hybridization (FISH), and by molecular techniques. RESULTS: Cytogenetic analysis by G-banding revealed a normal karyotype in all patients except one who presented a 47,XX,+idic(22)(q11.2) karyotype. Using molecular techniques, a deletion was observed in 25% of the patients, all exhibiting a 22q11.2 deletion syndrome phenotype. In none of the cases the deletion was inherited from the parents. The frequency of 22q11.2 deletion was higher in patients with the clinical spectrum of the 22q11.2 deletion syndrome than in patients with isolated conotruncal heart defect. CONCLUSION: Investigating the presence of the deletion and its correlation with the patients’ clinical data can help the patients and their families to have a better genetic counseling and more adequate clinical follow-up.

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