Biopsy – ABC CARDIOL

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Editorial

The Thickness That Deceives: The Role of Imaging, Biopsy, and Genetics in the Evaluation of Ventricular Hypertrophy

Increased ventricular wall thickness is a common finding in cardiovascular practice and is frequently attributed either to secondary myocardial hypertrophy or to sarcomeric hypertrophic cardiomyopathy (HCM). However, this phenotype may conceal a broad spectrum of genetic, infiltrative, and storage diseases, each associated with distinct prognostic implications and therapeutic strategies. Accurate differentiation between true myocardial hypertrophy and HCM phenocopies—or genocopies—remains a major diagnostic challenge and requires a multimodality approach integrating advanced cardiac imaging, endomyocardial biopsy (EMB), and genetic testing.^–

Cardiac imaging has evolved beyond morphological assessment. Cardiac magnetic resonance (CMR) with tissue characterization has become a cornerstone of noninvasive evaluation in patients with increased myocardial thickness. Parametric mapping techniques, including T1 and T2 mapping and extracellular volume (ECV) quantification, allow the detection of myocardial compositional changes such as edema, fibrosis, and infiltration, providing important diagnostic clues for conditions such as cardiac amyloidosis, Fabry disease, and glycogen storage cardiomyopathies (e.g., PRKAG2-related disease).^– In addition, specific late gadolinium enhancement patterns may further support the suspicion of non-sarcomeric etiologies.^,

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ABCHF

Viewpoint

Right Ventricular Pseudoaneurysm after Heart Transplantation: a rare complication associated with Endomyocardial Biopsy

Lucas Mollinari Veloso da Silveira et al. Joana Carolina Junqueira de Brum Luiz Claudio Danzmann Diego Costa Cardoso … Estevan Letti Marcela Cunha Sales Fernando Antônio Lucchese

Introduction

Cardiac pseudoaneurysms occur when a rupture in a blood vessel or myocardial wall is contained by surrounding structures such as the pericardium, thrombus, or adhesions. Unlike true aneurysms, pseudoaneurysms are more susceptible to late, potentially fatal ruptures.^, These lesions most commonly develop as complications of myocardial infarction, typically involving the left ventricle.

Less frequently, pseudoaneurysms can form in the right ventricle due to lipoma, postcardiac surgery, following device lead extraction, in the infectious setting, after remote myocardial infarction, as a complication of endomyocardial biopsy, and after penetrating chest wall trauma. The optimal management of right ventricular pseudoaneurysms is not well established, with current strategies focused on preventing rupture.

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ABCIC

Case Report

Turmoil of Symptoms: The Devastating Impact of Cardiac Lymphoma – Multiple Clinical Manifestations and the Lethal Causes of Cardiac Involvement

Gustavo Carvalho et al. Maria Fernanda Miranda Carvalho Tiago Magalhães Alexandre Manoel Varela … Kamila Fernanda Staszko Mariana Rie Hayashida

Abstract

Primary cardiac lymphoma (PCL) is a rare and highly lethal neoplasm, whose nonspecific clinical presentation makes early diagnosis difficult. This article reports the case of an elderly patient, previously healthy, who experienced dizziness and syncope for four months before the discovery of a large tumor mass in the heart. Imaging exams, such as echocardiography and magnetic resonance imaging, were crucial for tumor identification, and the biopsy confirmed it to be a B-cell lymphoma with high replication. However, given the severity of the condition and the family’s refusal to proceed with treatment, the patient progressed to sudden death two weeks after diagnosis. Primary cardiac tumors (PCTs) are underdiagnosed, with varied symptoms that may include vascular obstructions, arrhythmias, and heart failure. PCLs account for only 1% to 2% of primary cardiac masses and are more common in elderly men. The diagnosis is challenging due to the absence of specific signs, making imaging exams and biopsies essential for disease confirmation. This case illustrates the complexity of managing PCLs, whose rapid progression limits therapeutic options. The lack of specific symptoms and silent progression highlight the importance of early diagnosis. The high mortality rate reinforces the need for greater medical attention to this condition, which frequently leads to fatal outcomes before an effective intervention can be implemented.

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IJCS

Case Report

Fulminant Necrotizing Eosinophilic Myocarditis Successfully Treated With Veno-Arterial Extracorporeal Membrane Oxygenation and High-Dose Steroids

Tamara Pereira et al. Mariana Tinoco Bebiana Faria Olga Azevedo … Roberto Roncon Albuquerque António Lourenço

Abstract

Fulminant necrotizing eosinophilic myocarditis (FNEM) is a rare form of EM characterized by biventricular heart failure with hemodynamic deterioration, often requiring inotropes or mechanical circulatory support. Here, we report a case of a 43-year-old healthy woman with FNEM who was admitted with acute heart failure that rapidly progressed to cardiogenic shock and electrical storm, culminating in cardiac arrest. Early diagnosis and prompt administration of corticosteroids in combination with veno-arterial extracorporeal membrane oxygenation allowed complete recovery of biventricular systolic function.

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ABCIC

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The Role of Speckle Tracking in the Evaluation of Cardiac Amyloidosis

Fernando Pivatto Júnior et al. Vitória Homem Machado Ângela Barreto Santiago Santos

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ABC

Brief Communication

Cardiovascular Manifestations of Erdheim-Chester's Disease: A Case Series

Isabela Bispo Santos da Silva Costa et al. André Neder Ramires Abdo Cristina Salvadori Bittar Silvia Moulin Ribeiro Fonseca … Aline Sabrina Holanda Teixeira Moraes Roberto Kalil Filho Juliana Pereira Ludhmila Abrahão Hajjar

Abstract

Erdheim-Chester Disease is a rare entity, classified as an inflammatory myeloid neoplasm, with an unknown incidence, occurring preferentially in men after 50 years of age. Classically, it has a multisystemic presentation, with the skeletal system being the most frequently affected (90% of the patients), followed by genitourinary involvement in 60% of cases and central nervous system in the pituitary and diabetes insipidus in 25% of the cases. Cardiovascular manifestations are present in more than half of the patients, with aortic infiltration and atrial pseudotumor being the most common forms.

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Diagnosis and Treatment of Rare Complication after Endomyocardial Biopsy

Viviane Tiemi Hotta et al. Daniella Diniz do Nascimento Rangel Glaucia Maria Penha Tavares Sandrigo Mangini Pedro A. Lemos

Endomyocardial biopsy (EBM) is the gold standard method for the diagnosis of rejection after cardiac transplantation. Complications associated with the procedure are rare but can occur in about 8% of the cases. We describe a case of an uncommon complication probably associated with multiple EBMs in a transplanted patient. A 54-year-old male patient underwent orthotopic cardiac transplantation due to idiopathic dilated cardiomyopathy. Over the next ten months, the patient was submitted to eight EMBs and required pulse therapy on two occasions. In the routine outpatient evaluation, continuous systo diastolic murmur was observed in the left lower parasternal border and significant worsening of renal function. A transthoracic echocardiogram was performed, showing high velocity, right-sided apical flow on the color flow mapping and a significant dilation of the anterior descending coronary artery (ADA). The ADA presented significant dilatation with signs of communication with the right ventricle in the apical region, suggesting the diagnosis of coronary fistula ( and ). Coronary angiography revealed aneurysmal ADA and vascular remodeling due to hyperflow, confirming the diagnosis of coronary-cavitary fistula (). The patient was submitted to percutaneous closure of the coronary fistula with Coil Vortex-18 device and presented good clinical evolution and improvement of renal function. It is important to consider the risks associated with EBM. Echocardiography is a valuable method for the evaluation of patients with suspected complications after the procedure. This case describes a rare complication after EBM and the diagnosis of which was possible by echocardiographic evaluation.

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ABC

Artigo Original

Vasculitides and eosinophils in emdomyocardial biopsies as rejection predictors in heart transplantation

Reginaldo Cipullo et al. Marco Aurélio Finger João Manoel Rossi Neto Carlos Mendes Contreras … Nádia Van Geen Poltronieri Mabel de Moura Barros Zamorano Lílian Mary da Silva Paulo Chaccur Jarbas Jackson Dinkhuysen Noedir Antônio Groppo Stolf

BACKGROUND: The clinical significance of vasculitides, ischemic lesions, Quilty effect and the presence of eosinophils in endomyocardial biopsies of heart transplantation recipients with mild rejection has yet to be established. OBJECTIVE: To verify whether these histological findings observed in endomyocardial biopsies (eosinophils, vasculitides, Quilty effect and ischemic lesions) are capable of predicting acute graft rejection. METHODS: A total of 1,012 consecutive endomyocardial biopsies were reevaluated; of these, 939 were classified as OR or 1R according to the Nomenclature of the International Society of Heart and Lung Transplantation of 2005 and divided in two groups: (1) Predictive biopsies: those that preceded acute rejection; and (2) Nonpredictive biopsies: those that did not precede acute rejection. We compared the occurrence of the following histological findings: vasculitides, ischemic lesions, Quilty effect and eosinophils between the groups by uni- and multivariate analyses. RESULTS: The statistical analysis showed that the presence of severe vasculitides and eosinophils were the best predictors for future acute rejection, with the following odds ratios: 10.60 (95%CI: 3.62 – 31.06. p < 0.001) and 6.26 (95%CI: 3.16 – 12.43, p < 0.001). CONCLUSION: Severe vasculitides and eosinophils in myocardial biopsies are the main predictive factors of acute graft rejection post-heart transplantation.

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Artigo Original

Prognostic value of the collagen volume fraction in hypertrophic cardiomyopathy

Edmundo Arteaga et al. Aloir Queiroz de Araújo Mauricio Bernstein Felix J. A. Ramires … Barbara Maria Ianni Fabio Fernandes Charles Mady

BACKGROUND: In hypertrophic cardiomyopathy (HCM), interstitial myocardial fibrosis is an important histological modification that has been associated with sudden death and evolution toward myocardial dilation. OBJECTIVE:To prospectively evaluate the prognostic value of the collagen volume fraction in HCM. METHODS: An endomyocardial biopsy of the right ventricle was successfully performed in 21 symptomatic patients with HCM. The myocardial collagen volume fraction (CVF) was determined by histology. The CVF was also determined in fragments of nine normal hearts from subjects deceased from non-cardiac causes. The patients were divided into above-median CVF and below-median CVF groups, and their clinical and echocardiographic characteristics and survival curves were compared. RESULTS: Among the patients, the CVF ranged from 1.86% to 29.9%, median 6.19%; in normal hearts, from 0.13% to 1.46%, median 0.61% (p <0.0001 between HCM and control). There were no significant correlations between CVF and baseline echocardiographic measures. Patients with CVF 6.19% were compared and no baseline differences were observed. However, after an average follow-up period of 110 months, four deaths occurred (two sudden, two due to heart failure) in the group with increased CVF, whereas the patients of the group with lower CVF were all alive at the end of the period (p = 0.02). CONCLUSION:For the first time, myocardial fibrosis was prospectively associated with a worse prognosis in patients with HCM. Efforts should be directed to the quantification of myocardial fibrosis in HCM, on the premise that its association with the prognosis can aid in the stratification of risk for defibrillator implantation, and in the prescription of drugs that potentially promote myocardial repair.

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Artigo Original

B-type natriuretic peptide assessment in the diagnosis of rejection after pediatric heart transplant

Cristina de Sylos et al. Estela Azeka Luis Kajita Luis Benvenutti … Célia Cassaro Strunz Klébia Castello Branco Arlindo Almeida Riso Carla Tanamati Marcelo Jatene Miguel Barbero-Marcial

BACKGROUND: Rejection is one of the major causes of mortality following pediatric heart transplant. B-type natriuretic peptide (BNP) has been studied as a method for the diagnosis of acute rejection, especially in adult patients undergoing heart transplant. OBJECTIVE: To correlate serum BNP levels with acute rejection as diagnosed by endomyocardial biopsy in patients of the pediatric heart transplant group. METHODS: A total of 50 BNP samples were collected from 33 children in the postoperative period of heart transplant, and data on age, gender, skin color, blood group, immune panel, follow-up time after transplant, functional class, immunosuppressive regimen used and number of rejections were analyzed. RESULTS: Thirty three children with median age of 10.13 years were analyzed; of these, 54% were females and 78% were Caucasians. BNP levels were determined at a mean time from transplant of 4.25 years. Nine episodes of rejection were diagnosed in eight patients (27%) by means of endomyocardial biopsy; of these, three were grade 3A, five were grade 2, and one had humoral rejection. At the moment of biopsy, most patients were asymptomatic. The mean serum BNP level was 77.18 pg/ml, with 144.22 pg/ml in the group with rejection and 62.46 pg/ml in the group without rejection, with p = 0.02. CONCLUSION: Asymptomatic children can present acute rejection in the postoperative period of heart transplant. Serum BNP levels show a statistically significant difference in the group with rejection and thus can be an additional method in the diagnosis of cardiac rejection.

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Original Article

Video-assisted pericardioscopy. How to improve diagnostic efficacy in pericardial effusions

Paulo M. Pêgo-Fernandes et al. Fabio Fernandes Barbara M. Ianni Sandra Serson Rohr … Isabela Miranda Bernardelli Fabio B. Jatene Sérgio A. Oliveira

OBJECTIVE: To assess, in a prospective way, the experience with video-assisted pericardioscopy obtained in patients with pericardial effusion of unclear etiology in the preoperative period. METHODS: From January 1998 to June 2000, 20 patients were operated upon with the aid of video-assisted pericardioscopy. On echocardiography, 17 of these patients had significant pericardial effusion, and 3 had moderate pericardial effusion. Video-assisted pericardioscopy was performed through a small incision of the Marfan type. RESULTS: The diagnosis of pericardial effusion was established as follows: idiopathic in 9 (45%) patients, neoplastic in 4 (20%), resulting from hypothyroidism in 3 (15%), tuberculous in 2 (10%), due to cholesterol in 1 (5%), and chylopericardial in 1 (5%). The biopsy was positive in 30% of the patients, and the etiology could not be defined in 45% of the patients. CONCLUSION: Video-assisted pericardioscopy proved to be a method with low morbidity and a high index of diagnostic positivity. A high percentage of pericardial effusions are caused by viral infections, which are not diagnosed through current methods, being, therefore, classified as idiopathic.

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Artigo Original

Value of pericardial biopsy in the etiologic diagnosis of pericarditis

Fábio Fernandes et al. Barbara Maria Ianni Edmundo Arteaga Luis Benvenutti Charles Mady

PURPOSE: To determine the value of pericardial biopsy as a complementary exam in the etiology of pericardial effusion. METHODS: We analyzed retrospectively (from 1990 to 1997) 38 patients with pericardial effusion. The age ranged between 3 months and 79 years (mean 41.15± 21.78 years). Pericardial biopsy was perfomed in all cases through a subxiphoid incision. RESULTS: In 4 patients (10.5%) the biopsy was able to define etiology, 2 had tuberculosis and 2 neoplasias (1 undetermined adenocarcinoma, 1 mesotelioma). In 34 patients the biopsy showed inespecific chronic pericarditis. CONCLUSION: Pericardial biopsy was not an effective method to determine the etiological diagnosis in pericardial effusion patients. We believe that we have to individualise the indication of pericardial biopsy especially if tuberculosis or neoplasia are suspected.

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