Cardiomyopathy, Restrictive

ABC

Editorial

Unraveling the Challenges in Diagnosing Cardiac Amyloidosis

Transthyretin amyloidosis (ATTR) is a rare genetically caused pathology leading to potentially fatal infiltrative cardiomyopathy, representing the most common form of hereditary restrictive cardiomyopathy. The transthyretin (TTR) gene is located on chromosome 18q12.1 with autosomal dominant inheritance and variable penetrance. ATTR exhibits heterogeneous clinical manifestations, with cardiac involvement being the primary marker of poor prognosis. Cardiac amyloidosis (CA), a rare and often overlooked condition, has emerged as a significant challenge in the field of cardiology. This disorder poses a series of difficulties regarding early and accurate diagnosis.^–

Currently, the availability of genetic testing has identified a population carrying the genetic variant without the phenotype of CA.^– However, due to the progressive and slow evolution of the disease, the exact identification of cardiac involvement remains unknown.^–

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ABCIC

Case Report

Cardiac Amyloidosis: Restrictive Cardiomyopathy Prototype and Diastolic Dysfunction — Case Report

Thiago Augusto Vieira et al. Sandra de Barros Cobra Negreiros Diogo Wagner da Silva de Sousa Rodrigo de Freitas Garbero Carla de Oliveira Capanema

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ABCHF

Case Report

Recurrent Syncope: Initial Presentation of Transthyretin Amyloidosis. Benefits of Disease-Modifying Treatment

Edileide de Barros Correia et al. Larissa Ventura Ribeiro Bruscky Berenice Cataldo Oliveira Valério Ana Cristina de Souza Murta … Fabiano Castro Albrecht Ibraim Masciarelli Francisco Pinto Paola Emanuela Poggio Smanio

Introduction

Syncope is a symptom that can occur in normal hearts, but it may also have multiple causes, both cardiological and neurological. It is not frequently reported as an initial manifestation of cardiac amyloidosis, but, when it occurs, it can be determined by severe atrioventricular block, ventricular tachyarrhythmia, or, as we will describe in the following case report, autonomic dysfunction and postural arterial hypotension. The objective of this study is to describe the case of a patient with transthyretin (TTR) cardiac amyloidosis, with the Val50met mutation, historically known as Val30met,, whose initial clinical presentation was syncope.

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ABCHF

Viewpoint

A Practical Approach to Differential Diagnosis of Cardiomyopathies with Infiltrative Phenotypes

Ligia Lopes Balsalobre Trevizan et al. Sandrigo Mangini

Introduction

Heart failure (HF) affects approximately 2% of the world population; heart failure with preserved ejection fraction (HFpEF) is responsible for approximately 50% of cases, and it has shown a progressive increase in prevalence with the aging of the population.

HFpEF is associated with high morbidity and mortality, and it is responsible for frequent hospitalizations, especially in the most elderly population. It has a complex pathophysiology and a diversified group of risk factors and etiologies. To date, few therapies have been shown to be effective in reducing cardiovascular outcomes in HFpEF; however, for specific etiologies, the possibility of disease-modifying therapeutic strategies exists.^–

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ABC

Editorial

Galectin-3 in Chronic Constrictive Pericarditis: Accurate Information for the Good Doctor

Wolney de Andrade Martins

Galectin-3 (Gal-3), which is now known as a new biomarker, has traveled the rigorous scientific pathway from discovery to validation. Experimental and clinical studies described its elevation in several situations, such as tumors, renal failure and heart failure. Its administration caused myocardial fibrosis and heart failure (HF). Its genetic suppression or inhibition prevented fibrosis and remodeling, that is, the cause-and-effect relationship had been proven. Elevated levels of Gal-3 show a worse prognosis, as they predict sudden death. Galectin-3 was an independent predictor in the short and medium term of hospitalizations and of mortality in patients with HF, especially those with heart failure with preserved ejection fraction (HFpEF).

The biomarker can assist the clinician in their diagnostic dilemmas, in assessing the prognosis and even guiding the therapy. The HFpEF is an example of condition where all help is welcome. Multiple comorbidities, less typical conditions, especially in the elderly and obese, can be confusing. HFpEF is one of the situations where Gal-3 can greatly assist in diagnostic confirmation.

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ABC

Clinicoradiological Session

Case 1/2018 – Preponderant Left Ventricular Restrictive Syndrome in a 28-Year-Old Woman

Edmar Atik et al. Danielle Haddad Syllos Dezen

Additional tests

Chest X-ray: normal cardiac area with a clear increase of the left atrium in a double atrial contour and a more prominent pulmonary vascular weave in the upper fields ().

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ABC

Anatomopathological Session

Case 6/2017 – A 28-Year-Old Man with Anasarca And Restrictive Heart Disease

Desiderio Favarato et al. Luis Alberto Benvenuti

Clinical aspects

The patient was a 28-year-old male with anasarca. There were moderate left systolic dysfunction and marked enlargement of the atria and right ventricle, with mild increase in pulmonary arterial pressure and moderate regurgitation of the atrioventricular valves.

Apparently diastolic dysfunction and dilatation of the ventricles and systolic dysfunction of the right ventricle predominated, indicating a restrictive heart disease.

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ABC

Original Article

Characterization of Cardiopulmonary Exercise Testing Variables in Patients with Endomyocardial Fibrosis after Endocardial Resection

Ana Luiza C. Sayegh et al. Marcelo R. dos Santos Patricia de Oliveira Fábio Fernandes … Eduardo Rondon Francis R. de Souza Vera M. C. Salemi Maria Janieire de N. N. Alves Charles Mady

Abstract

Background:

Endomyocardial fibrosis (EMF) is a rare disease, characterized by diastolic dysfunction which leads to reduced peak oxygen consumption (VO₂). Cardiopulmonary exercise testing (CPET) has been proved to be a fundamental tool to identify central and peripheral alterations. However, most studies prioritize peak VO₂ as the main variable, leaving aside other important CPET variables that can specify the severity of the disease and guide the clinical treatment.

Objective:

The aim of this study was to evaluate central and peripheral limitations in symptomatic patients with EMF by different CPET variables.

Methods:

Twenty-six EMF patients (functional class III, NYHA) were compared with 15 healthy subjects (HS). Functional capacity was evaluated using CPET and diastolic and systolic functions were evaluated by echocardiography.

Results:

Age and gender were similar between EMF patients and HS. Left ventricular ejection fraction was normal in EMF patients, but decreased compared to HS. Peak heart rate, peak workload, peak VO₂, peak oxygen (O₂) pulse and peak pulmonary ventilation (V_E) were decreased in EMF compared to HS. Also, EMF patients showed increased Δ heart rate /Δ oxygen uptake and Δ oxygen uptake /Δ work rate compared to HS.

Conclusion:

Determination of the aerobic capacity by noninvasive respiratory gas exchange during incremental exercise provides additional information about the exercise tolerance in patients with EMF. The analysis of different CPET variables is necessary to help us understand more about the central and peripheral alterations cause by both diastolic dysfunction and restrictive pattern.

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ABC

Review Article

Cardiac Amyloidosis and its New Clinical Phenotype: Heart Failure with Preserved Ejection Fraction

Evandro Tinoco Mesquita et al. Antonio José Lagoeiro Jorge Celso Vale Souza Junior Thais Ribeiro de Andrade

Abstract

Heart failure with preserved ejection fraction (HFpEF) is now an emerging cardiovascular epidemic, being identified as the main phenotype observed in clinical practice. It is more associated with female gender, advanced age and comorbidities such as hypertension, diabetes, obesity and chronic kidney disease. Amyloidosis is a clinical disorder characterized by the deposition of aggregates of insoluble fibrils originating from proteins that exhibit anomalous folding. Recently, pictures of senile amyloidosis have been described in patients with HFpEF, demonstrating the need for clinical cardiologists to investigate this etiology in suspect cases. The clinical suspicion of amyloidosis should be increased in cases of HFPS where the cardio imaging methods are compatible with infiltrative cardiomyopathy. Advances in cardio imaging methods combined with the possibility of performing genetic tests and identification of the type of amyloid material allow the diagnosis to be made. The management of the diagnosed patients can be done in partnership with centers specialized in the study of amyloidosis, which, together with the new technologies, investigate the possibility of organ or bone marrow transplantation and also the involvement of patients in clinical studies that evaluate the action of the new emerging drugs.

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Anatomopathological Session

Case 4 – A 79-Year-Old Man with Congestive Heart Failure Due to Restrictive Cardiomyopathy

Sumaia Mustafa et al. Alice Tatsuko Yamada Fabio Mitsuo Lima Valdemir Melechco Carvalho … Vera Demarchi Aiello Jussara Bianchi Castelli

Clinical Aspects

The patient JAB, a 79-year-old previous smoker and alcoholic man residing in São Paulo, attended an outpatient clinic at InCor due to heart failure which worsened progressively since 2012, requiring hospitalization for treatment.

Heart failure is a systemic and complex clinical syndrome, defined as a cardiac dysfunction that causes the blood supply to be insufficient to meet tissular metabolic demands, in the presence of a normal venous return, or which only meets the demands with high filling pressure.

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