Strain do Átrio Esquerdo pela Técnica de Speckle-Tracking: Contribuição para a Avaliação da Função Diastólica em Pacientes Pediátricos com Doença Renal Crônica / Speckle-Tracking: Incremental Role in Diastolic Assessment of Pediatric Patients with Chronic Kidney Disease

Resumo Fundamento: As complicações cardiovasculares são a principal causa de morte em pacientes pediátricos com doença renal crônica (DRC). A avaliação ecocardiográfica da função diastólica na DRC tem se limitado à avaliação espectral por Doppler espectral e por Doppler tecidual, técnicas sabidamente menos confiáveis na pediatria. O strain do átrio esquerdo (AE) pela técnica do speckle tracking bidimensional (2DST) foi recentemente confirmada como uma medida robusta da função diastólica. Objetivos: Investigar o papel do strain do AE na avaliação da função diastólica de crianças em diferentes estágios da DRC. Métodos: De fevereiro de 2019 a julho de 2022, 55 pacientes com DRC sem sintomas cardiovasculares e 55 controles foram avaliados por ecocardiografia convencional e por ecocardiografia com 2DST. O nível de significância adotado foi de 5% (p < 0,05). Resultados: Pacientes e controles tinham idade similares [9,78 (0,89 - 17,54) vs. 10,72 (1,03 -18,44) anos; p = 0,41] e sexo (36M:19F vs. 34M:21F; p = 0,84) similares. Havia 25 pacientes não dialíticos e 30 pacientes dialíticos. A fração de ejeção do ventrículo esquerdo foi ≥ 55% em todos. Em comparação aos controles, os pacientes com DRC apresentaram strain de reservatório mais baixo (48,22±10,62% vs. 58,52±10,70%) e índice de rigidez do AE mais alto [0,14 (0,08-0,48)%-1 vs. 0,11 (0,06-0,23) %-1]; p<0,0001. A hipertrofia ventricular esquerda associou-se com um strain de reservatório mais baixo (42,05±8,74% vs. 52,99±9,52%), e valores mais altos de índice de rigidez [0,23 (0,11 - 0,48)%-1 vs. 0,13 (0,08-0,23) %-1 e de índice de enchimento do AE (2,39±0,63 cm/s x %-1 vs. 1,74±0,47 cm/s x %-1; p<0,0001). Hipertensão não controlada associou-se com strain de reservatório do AE mais baixo (41,9±10,6% vs. 50,6±9,7; p=0,005). Conclusão: O strain do AE mostrou-se uma ferramenta útil na avaliação de pacientes pediátricos com DRC e associado com fatores de risco cardiovasculares conhecidos.

Abstract Background: Cardiovascular complications are the leading cause of mortality in pediatric patients with chronic kidney disease (CKD). Echocardiographic assessment of diastolic function in CKD has been limited to spectral and tissue Doppler imaging, known to be less reliable techniques in pediatrics. Two-dimensional Speckle tracking echocardiography (2DST) derived left atrial (LA) strain has recently been confirmed as a robust measure of diastolic function. Objectives: To investigate LA strain role in diastolic assessment of children at different stages of CKD. Methods: From February 2019 to July 2022, 55 CKD patients without cardiovascular symptoms and 55 controls were evaluated by standard and 2DST echocardiograms. The level of significance was set at 5% (p<0.05). Results: Patients and controls had similar age [9.78 (0.89 - 17.54) vs. 10.72 (1.03 -18,44) years; p = 0.41] and gender (36M:19F vs. 34M:21F; p=0.84). There were 25 non-dialysis patients and 30 dialysis patients. Left ventricular ejection fraction was ≥ 55% in all of them. Comparing CKD and controls, LA reservoir strain was lower (48.22±10.62% vs. 58.52±10.70%) and LA stiffness index was higher [0.14 (0.08-0.48)%-1 vs. 0.11 (0.06-0.23) %-1]; p<0.0001. LV hypertrophy was associated with lower LA reservoir strain (42.05±8.74% vs. 52.99±9.52%), higher LA stiffness [0.23(0.11 - 0.48)%-1 vs. 0.13 (0.08-0.23) %-1 and filling indexes (2.39±0.63 cm/s x %-1 vs. 1.74±0.47 cm/s x %-1; p<0.0001. Uncontrolled hypertension was associated with lower LA reservoir strain (41.9±10.6% vs. 50.6±9.7; p=0.005). Conclusions: LA strain proved to be a feasible tool in the assessment of pediatric CKD patients and was associated with known cardiovascular risk factors.

Accidente vascular encefálico isquémico como manifestación de mixoma auricular. Presentación de un caso

La enfermedad cerebrovascular constituye una de las principales causas de muerte a nivel mundial. Múltiples factores desencadenan los accidentes vasculares encefálicos isquémicos, entre ellas los tumores cardiacos, como el mixoma auricular. Se presenta el caso de una paciente femenina de 32 años, que al examen físico mostró afasia motora, hemiplejia fascio-braquio-crural derecha y discreta paresia de la mirada vertical con nistagmos. Se realizaron estudios de imagen (tomografía de cráneo, ecocardiograma transtorácico y angiotomografía de vasos de cuello) sugerentes de embolización sistémica en el territorio de la carótida izquierda, secundarios a la fragmentación de un tumor cardiaco. Se decide derivar a la paciente a cirugía cardiovascular para endarectomía carotídea con exéresis del tumor cardiaco, el cual evolucionó satisfactoriamente. Persistió el daño neurológico debido al tiempo transcurrido entre el diagnóstico y el tratamiento. Teniendo en cuenta la baja frecuencia del mixoma cardiaco y la posibilidad de asociarse con ictus isquémico se decide presentar este caso.

Cerebrovascular disease is one of the main causes of death worldwide. Multiple factors trigger ischemic strokes, including cardiac tumors such as atrial myxoma. A 32-years-old female patient, who on physical examination showed motor aphasia, right fascio-brachio-crural hemiplegia and discrete vertical gaze paresis with nystagmus is presented. Imaging studies were performed (skull tomography, transthoracic echocardiogram and angiotomography of neck vessels) suggestive of systemic embolization in the left carotid territory, secondary to the fragmentation of a cardiac tumor. It was decided to refer the patient to cardiovascular surgery for carotid endarectomy with excision of the cardiac tumor, which progressed satisfactorily. Neurological damage persisted due to the time elapsed between diagnosis and treatment. Taking into account the low frequency of cardiac myxoma and the possibility of being associated with ischemic stroke, it was decided to present this case.

Management of primary cardiac leiomyosarcoma.

Background: Primary cardiac cancer is a rare event with various clinical presentations and often causes unexpected symptoms or sudden death. Case reports with this diagnosis are scarce. Case presentation: We present an unusual manifestation of leiomyosarcoma of the left atrium in a female patient, 33 years old. Presenting difficulty to walk, dyspnoea at rest, skin pallor, cough with hemoptoics and syncope. A transthoracic echocardiogram showed cavitary enlargement of the left atrium, moderate to significant mitral stenosis with an adherent mass in the anterior leaflet, left ventricular systolic function preserved at rest, and mild aortic and tricuspid insufficiency. The procedure was complete resection of the tumour or negative microscopic margins (R0 resection), 25 sessions of radiotherapy, 5 cycles of adjuvant chemotherapy using gemcitabine (900 mg/m2 on days 1 and 8) and docetaxel (75 mg/m2 on day 8), with a resolution of the clinical picture. After 5 years of follow-up, the patient had no metastases or recurrence of the initial tumour. Conclusion: The nonspecific symptoms presented in the reported case demonstrate that the cardiac tumour can mimic other cardiac disorders, such as coronary artery disease or pericarditis, rarely representing the first manifestation of a previously unknown malignancy.

Quadricuspid Aortic Valve with Ruptured Sinus of Valsalva Aneurysm: a Case Report

Abstract Quadricuspid aortic valve (QAV) and sinus of Valsalva aneurysm (SVA) are rare congenital anomalies. We report an elderly patient with QAV associated with a ruptured SVA to the right atrium. Transthoracic echocardiographic and computed tomographic images are presented. We emphasize the important role of computed tomography angiography in establishing and confirming the diagnosis and facilitating treatment planning. The patient was successfully operated by a minimally invasive approach.

In Vivo Dissection of Chamber-Selective Enhancers Reveals Estrogen-Related Receptor as a Regulator of Ventricular Cardiomyocyte Identity.

BACKGROUND: Cardiac chamber-selective transcriptional programs underpin the structural and functional differences between atrial and ventricular cardiomyocytes (aCMs and vCMs). The mechanisms responsible for these chamber-selective transcriptional programs remain largely undefined. METHODS: We nominated candidate chamber-selective enhancers (CSEs) by determining the genome-wide occupancy of 7 key cardiac transcription factors (GATA4, MEF2A, MEF2C, NKX2-5, SRF, TBX5, TEAD1) and transcriptional coactivator P300 in atria and ventricles. Candidate enhancers were tested using an adeno-associated virus-mediated massively parallel reporter assay. Chromatin features of CSEs were evaluated by performing assay of transposase accessible chromatin sequencing and acetylation of histone H3 at lysine 27-HiChIP on aCMs and vCMs. CSE sequence requirements were determined by systematic tiling mutagenesis of 29 CSEs at 5 bp resolution. Estrogen-related receptor (ERR) function in cardiomyocytes was evaluated by Cre-loxP-mediated inactivation of ERRα and ERRγ in cardiomyocytes. RESULTS: We identified 134 066 and 97 506 regions reproducibly occupied by at least 1 transcription factor or P300, in atria or ventricles, respectively. Enhancer activities of 2639 regions bound by transcription factors or P300 were tested in aCMs and vCMs by adeno-associated virus-mediated massively parallel reporter assay. This identified 1092 active enhancers in aCMs or vCMs. Several overlapped loci associated with cardiovascular disease through genome-wide association studies, and 229 exhibited chamber-selective activity in aCMs or vCMs. Many CSEs exhibited differential chromatin accessibility between aCMs and vCMs, and CSEs were enriched for aCM- or vCM-selective acetylation of histone H3 at lysine 27-anchored loops. Tiling mutagenesis of 29 CSEs identified the binding motif of ERRα/γ as important for ventricular enhancer activity. The requirement of ERRα/γ to activate ventricular CSEs and promote vCM identity was confirmed by loss of the vCM gene profile in ERRα/γ knockout vCMs. CONCLUSIONS: We identified 229 CSEs that could be useful research tools or direct therapeutic gene expression. We showed that chamber-selective multi-transcription factor, P300 occupancy, open chromatin, and chromatin looping are predictive features of CSEs. We found that ERRα/γ are essential for maintenance of ventricular identity. Finally, our gene expression, epigenetic, 3-dimensional genome, and enhancer activity atlas provide key resources for future studies of chamber-selective gene regulation.

Quadricuspid Aortic Valve with Ruptured Sinus of Valsalva Aneurysm: a Case Report.

Quadricuspid aortic valve (QAV) and sinus of Valsalva aneurysm (SVA) are rare congenital anomalies. We report an elderly patient with QAV associated with a ruptured SVA to the right atrium. Transthoracic echocardiographic and computed tomographic images are presented. We emphasize the important role of computed tomography angiography in establishing and confirming the diagnosis and facilitating treatment planning. The patient was successfully operated by a minimally invasive approach.

Estudo Morfofuncional do Átrio Esquerdo Isolado de um Modelo Experimental de Hipertensão Pulmonar em Ratos / Isolated Left Atrium Morphofunctional Study of an Experimental Pulmonary Hypertension Model in Rats

Resumo Fundamento A alta incidência de arritmias atriais na hipertensão pulmonar (HP) pode estar associada a um prognóstico ruim, e o átrio esquerdo (AE) pode desempenhar um papel neste quadro. Um achado importante nos estudos de HP é que a remodelação do AE é subestimada. Objetivo Este estudo investigou a morfologia e a função mecânica do AE, bem como a suscetibilidade ao desenvolvimento de arritmias em um modelo de HP induzida por monocrotalina (HP-MCT). Métodos Ratos Wistar com 4 semanas de idade receberam 50 mg/kg de MCT. Foram realizadas análises eletrocardiográficas e histológicas para avaliar o estabelecimento do modelo de HP-MCT. O tecido foi montado em banho de órgão isolado para caracterizar a função mecânica do AE. Resultados Em comparação com o grupo controle, o modelo de HP-MCT apresentou hipertrofia do AE e alterações da atividade elétrica cardíaca, conforme evidenciadas pelo aumento da duração da onda P, PR e intervalo QT. Não foi observada alteração no inotropismo do AE isolado de ratos com HP-MCT; no entanto, o tempo para atingir a contração máxima foi atrasado. Finalmente, não observamos diferença na suscetibilidade à arritmia no AE dos ratos com HP-MCT após o protocolo de estimulação intermitente. Conclusão A remodelação morfofuncional do AE não levou ao aumento da suscetibilidade à arritmia ex vivo após a aplicação do protocolo de estimulação intermitente.

Abstract Background The high incidence of atrial arrhythmias in pulmonary hypertension (PH) might be associated with poor prognosis, and the left atrium (LA) may play a role in this. An important finding in PH studies is that LA remodeling is underestimated. Objective This study investigated LA morphology and mechanical function, as well as the susceptibility to develop arrhythmias in a monocrotaline-induced PH (MCT-PH) model. Methods Wistar rats aged 4 weeks received 50 mg/kg of MCT. Electrocardiography and histology analysis were performed to evaluate the establishment of the MCT-PH model. The tissue was mounted in an isolated organ bath to characterize the LA mechanical function Results Compared with the control group (CTRL), the MCT-PH model presented LA hypertrophy and changes in cardiac electrical activity, as evidenced by increased P wave duration, PR and QT interval in MCT-PH rats. In LA isolated from MCT-PH rats, no alteration in inotropism was observed; however, the time to peak contraction was delayed in the experimental MCT-PH group. Finally, there was no difference in arrhythmia susceptibility of LA from MCT-PH animals after the burst pacing protocol. Conclusion The morphofunctional remodeling of the LA did not lead to increased susceptibility to ex vivo arrhythmia after application of the burst pacing protocol.

Rare Presentation of Sinus of Valsalva Aneurysm Treated by Aortic Valve Reimplantation Technique

Abstract Sinus of Valsalva aneurysm is a rare cardiac abnormality which can be acquired or of congenital origin. A spontaneous rupture into the right atrium is possible and, if not adequately treated, may result in a progressive heart failure due to the left-to-right intracardiac shunt. If ruptured sinus of Valsalva aneurysm is diagnosed, surgical repair is indicated, and different surgical techniques have been reported. If concomitant aortic regurgitation is present, aortic valve replacement is usually performed. Herein, we describe an uncommon clinical presentation of a ruptured sinus of Valsalva aneurysm which has been corrected by aortic valve reimplantation.

A Primary Neuroendocrine Tumor Mimicking a Thrombus in the Left Atrial Appendage.

Most cardiac tumors are metastases, and primary cardiac tumors are rare; even among primary cardiac tumors, primary cardiac neuroendocrine tumors (NETs) are extremely rare. Herein, we report a case of a patient presenting a left atrial mass without past medical history. Because of the location and movement of the mass, as well as the patient's cerebral infarction episode, the mass was initially suspected to be a thrombus. However, the mass was surgically diagnosed as NET.

Repair of Congenital Right Atrial Aneurysm Associated With Wolff-Parkinson-White Syndrome in a 5-Year-Old Girl.

This report describes our experience with a 5-year-old girl who had an extremely rare presentation of a right atrial aneurysm and associated Wolff-Parkinson-White syndrome. Before being referred to our department, she underwent an ineffective radiofrequency ablation for repeated episodes of paroxysmal supraventricular tachycardia that were causing dizziness, palpitations, and chest discomfort. We resected the aneurysm with good results; she was doing well and was in normal sinus rhythm at the time of her 1-year follow-up visit.

Right Atrial Thrombus Mimicking a Myxoma: Synergism of Hormonal Contraceptives and Antiphospholipid Antibodies.

Cardiac thrombus, the most common intracardiac mass, is typically seen in the left side of the heart in the presence of atrial fibrillation, mitral stenosis, or impaired global wall motion. Right atrial thrombus, which is rarer, is usually associated with central venous catheter placement or pulmonary embolism. We present the case of a 24-year-old woman with a history of mitral valve prolapse who presented with fatigue and palpitations. Echocardiograms and cardiac magnetic resonance images revealed a right atrial mass compatible with a myxoma. However, after surgical excision of this and a second mass discovered intraoperatively, pathologic evaluation confirmed organized thrombus rather than myxoma. The patient's only risk factor was her use of oral contraceptive pills. Test results for hypercoagulable disorders revealed the presence of antiphosphatidylserine, an uncommon antiphospholipid antibody. The patient stopped taking the contraceptive. This case suggests the need to examine further the role of antiphosphatidylserine antibodies in the diagnosis of antiphospholipid syndrome.

Promedio de presión arterial en 24 horas y cambios ecocardiográficos tempranos / 24 hour blood pressure monitoring and early echocardiographic findings

Resumen Introducción: la hipertensión arterial es uno de los factores principales de morbimortalidad cardiovascular, con una prevalencia en aumento, por lo cual se considera como uno de los factores principales prevenibles y tratables de mortalidad1. En Colombia no se cuenta con datos que correlacionen cambios ecocardiográficos con los valores obtenidos en el monitoreo ambulatorio de presión arterial en 24 horas. Objetivo: evaluar las posibles relaciones entre la presión arterial sistólica y diastólica promedio en 24 horas con los desenlaces: grosor relativo de pared (GRP), volumen auricular izquierdo indexado, fracción de eyección ventricular izquierda (FEVI) y masa ventricular indexada. Materiales y métodos: estudio observacional, descriptivo, de corte transversal, en pacientes colombianos con datos ecocardiográficos y resultados de MAPA del servicio de cardiología del Hospital de San José, entre junio de 2018 y diciembre de 2019. Resultados: se incluyeron 70 pacientes; se encontró posible relación entre la presión arterial sistólica promedio en 24 horas y el volumen auricular izquierdo indexado (p = 0.004), la presión arterial diastólica promedio en 24 horas y el grosor relativo de pared (p = 0.032). Conclusión: en este estudio se encontró una posible asociación entre volumen auricular izquierdo y presión arterial sistólica promedio en 24 h, GRP y presión arterial diastólica promedio en 24 h. Se hacen necesarios más estudios para confirmar estos hallazgos.

Abstract Introduction: Arterial hypertension is one of the main factor associated with cardiovascular morbidity and mortality with increasing prevalence, so it is considered as a key factor to treat to decrease cardiovascular disease. There is no data in Colombia that correlates echocardiographic parameters with meassures of blood pressure obtained by a 24 h ambulatory blood pressure monitoring. Objective: To evaluate possible relations between 24 hour blood pressure monitoring and relative wall thickness, left atrial volume index, left ventricular ejection fraction and ventricular mass index. Materials and methods: A cross sectional, observational, descriptive trial in Colombian patients between june 2018 to dicember 2019 with echocardiographic and 24 h blood pressure monitoring data from the cardiology deparment of the Hospital de San José. Results: 70 patients were included. a possible relation was found between 24 h systolic blood pressure monitoring and 24 h diastolic pressure monitoring with left atrial volume index (p = 0.004) and relative wall thickness (p = 0.032) respectively. Conclusion: A possible association was found between 24 h systolic blood pressure monitoring and 24 h diastolic blood pressure monitoring with left atrial volume index and relative wall thickness respectively. It is necessary to conduct more studies to confirm this finding.

Diagnostic and Prognostic Value of Left Atrial Function in Identification of Cardioembolism and Prediction of Outcomes in Patients with Cryptogenic Stroke.

BACKGROUND: Stroke of undetermined source, commonly termed cryptogenic stroke (CS), accounts for a significant proportion of ischemic stroke etiology and have high rates of stroke recurrence. The heterogeneous etiology of CS makes decisions regarding treatment for such patients challenging. The aim of this study was to evaluate the diagnostic and prognostic value of left atrial (LA) function in the identification of cardioembolism and prediction of outcomes in patients with CS. METHODS: Consecutive patients admitted to a tertiary institution with ischemic stroke or transient ischemic attack (TIA) who underwent transthoracic echocardiography were recruited, with comprehensive evaluation of LA metrics including LA strain. Ischemic strokes and TIAs were classified as noncardioembolic, cryptogenic, or cardioembolic. A total of 709 patients (mean age, 66.0 ± 15.1 years; 55% men) were recruited. Two hundred ninety-one patients had CS, 189 had noncardioembolic stroke, and 229 had cardioembolic stroke. Patients with CS were followed for 20.0 ± 13.8 months for recurrent ischemic stroke or TIA. RESULTS: Receiver operating characteristic curves showed LA reservoir and contractile strain to be strong discriminators of cardioembolic strokes, and log-rank tests showed both measures to be significantly associated with the distribution of time to recurrent ischemic stroke or TIA in patients with CS. Multivariable hazard models showed LA reservoir and contractile strain to be independent predictors of recurrent ischemic stroke or TIA in patients with CS, in addition to estimated glomerular filtration rate and active smoking. CONCLUSIONS: LA reservoir and contractile strain were strong discriminators of cardioembolic stroke and independently predicted recurrent ischemic stroke or TIA in patients with CS. Use of LA strain may improve risk stratification and decision-making in patients with CS, with particular regard to prolonged ambulatory heart rhythm monitoring and/or empiric anticoagulation.

Malignant solitary fibrous tumors of the left atrial endocardium.

Solitary fibrous tumors are typically benign and usually develop in the pleura. We herein report the first case of a solitary fibrous tumor that was pathologically malignant and developed in the left atrial endocardium. A 24-year-old woman underwent resection of a malignant solitary fibrous tumor in her right forearm at another hospital. Computed tomography demonstrated a mass in her right pleura 2 months after the surgery. She was referred to our hospital, and a tumor in her left atrium was subsequently found. She underwent resection of these tumors, and pathological examination showed that they were both malignant solitary fibrous tumors.

Rare Presentation of Sinus of Valsalva Aneurysm Treated by Aortic Valve Reimplantation Technique.

Sinus of Valsalva aneurysm is a rare cardiac abnormality which can be acquired or of congenital origin. A spontaneous rupture into the right atrium is possible and, if not adequately treated, may result in a progressive heart failure due to the left-to-right intracardiac shunt. If ruptured sinus of Valsalva aneurysm is diagnosed, surgical repair is indicated, and different surgical techniques have been reported. If concomitant aortic regurgitation is present, aortic valve replacement is usually performed. Herein, we describe an uncommon clinical presentation of a ruptured sinus of Valsalva aneurysm which has been corrected by aortic valve reimplantation.

Perigraft hygroma mimicking recurrent angiosarcoma of the right atrium.

Primary cardiac angiosarcoma is extremely rare, has a poor prognosis and has no specific clinical manifestation. A 31-year-old pregnant woman presented to the emergency department with signs of pericardial tamponade. Transesophageal echocardiography (TEE) showed a mass within her right atrium. Extensive surgical resection was performed with subsequent pericardial patch reconstruction of the right atrium. Histological examination showed the presence of an angiosarcoma. A reoperation was performed 18 months after the initial operation, because of concerns of radicality. Three years later she was re-admitted with a superior caval vein syndrome. A stent was placed to relieve symptoms. Because of the suspicion of a recurrent tumor, a second reoperation followed. During this operation, a perigraft hygroma was found pressing against the previously reconstructed superior caval vein. Histological examination after both reoperations showed no signs of a recurrent angiosarcoma. Until today, 8 years after her first surgery, the patient is still alive without any signs of recurrent tumor.