Implementing cardiac POCUS in obstetric patients during the preanesthetic period. Narrative review / Implementación del POCUS cardiaco en pacientes obstétricas durante el periodo preanestésico. Revisión narrativa

Abstract During the preanesthetic assessment of the obstetric patient, it is critical to assess the patient's cardiovascular baseline condition, identify any potential risks, and facilitate behavioral modification to develop an individualized management strategy aimed at minimizing complications. Cardiac point-of-care ultrasound (POCUS) is a valuable instrument for assessing the morphology and function of the heart prior to surgery. Cardiac POCUS is not designed to replace comprehensive transthoracic echocardiography, which is the realm of cardiovascular anesthesiology and cardiology. However, when used in conjunction with anamnesis, physical examination, electrocardiogram, and previous laboratory results, cardiac POCUS is a valuable adjunct in the diagnostic toolbox of anesthesiologists. It allows for direct visualization of the heart and great vessels, with added benefits of speed, availability, and low risk for the patient. The purpose of this manuscript is to explore and describe the advantages of cardiac POCUS in the preanesthetic period of obstetric patients and its potential value for anesthesiologists through the identification of potentially hazardous conditions that may require individualized preoperative management.

Resumen Durante la valoración preanestésica de la paciente obstétrica, es fundamental evaluar la condición cardiovascular basal de la paciente, identificar riesgos potenciales y facilitar modificaciones conductuales para desarrollar una estrategia de manejo individualizada, dirigida a minimizar las complicaciones. La ecografía cardíaca a la cabecera del paciente (POCUS) es un instrumento valioso para evaluar la morfología y la función del corazón antes de un procedimiento quirúrgico. El POCUS cardiaco no está diseñado para sustituir a la ecocardiografía transtorácica formal, que corresponde al área de anestesiología cardiovascular y a la cardiología. Sin embargo, cuando se usa en conjunto con la anamnesis, el examen físico, el electrocardiograma y los resultados de exámenes de laboratorio previos, el POCUS cardiaco es un complemento valioso dentro del arsenal diagnóstico de los anestesiólogos. Permite la visualización directa del corazón y de los grandes vasos, con beneficios adicionales de velocidad, disponibilidad y bajo riesgo para la paciente. El objetivo del presente manuscrito es explorar y describir las ventajas del POCUS cardiaco durante el periodo preanestésico en pacientes obstétricas y su valor potencial para los anestesiólogos, a través de la identificación de condiciones eventualmente peligrosas que pudieran requerir un manejo preoperatorio individualizado.

The myriad presentations of peripartum cardiomyopathy

Peripartum cardiomyopathy (PPCM) is an idiopathic, non-ischemic systolic type of heart failure which can present anytime from the last month of pregnancy till the end of 5th month post-partum. The incidence of PPCM in the Indian population is 1:1340 with 60% of the cases occurring post-partum. PPCM has a mortality rate of 11.7% with unpredictable sequelae ranging from worsening heart failure, cardiogenic shock, development of arrythmias to complete recovery and recurrence in subsequent pregnancies. With an idiopathic aetiology with multiple theories, PPCM remains a diagnosis of exclusion, demanding a high index of suspicion and surveillance in pregnant women. The management involves a multidisciplinary approach involving the obstetrician, cardiologist and at times the anaesthesiologist and includes various drugs like beta- blockers, diuretics, digoxin, bromocriptine. In severe cases, maternal circulatory support may also be needed. We present three cases of PPCM diagnosed in the antepartum, intrapartum and immediate post-partum periods respectively. Out of 3 patients, one delivered vaginally and two underwent emergency caesarean sections. All of patients went home post-delivery with good outcomes and were doing well after 4 weeks of delivery.

Achados Ecocardiográficos em Crianças de Pacientes com Diagnóstico de Síndrome do PRKAG2 / Echocardiographic Findings in Children of Patients Diagnosed with PRKAG2 Syndrome

Resumo Fundamento: A síndrome do PRKAG2 tipicamente se manifesta na adolescência e início da idade adulta, cursando com hipertrofia ventricular esquerda, arritmias e risco de morte súbita. O achado de marcadores ecocardiográficos antes da manifestação clínica nos filhos de pais acometidos pela doença pode facilitar a estratégia de prevenção e planejamento terapêutico para esse grupo de pacientes. Objetivo: Identificar a existência de achados ecocardiográficos que se manifestem precocemente nos filhos de pais acometidos por síndrome do PRKAG2, enquanto ainda assintomáticos. Métodos: Estudo observacional transversal em que sete participantes, filhos de pais com diagnóstico estabelecido de síndrome do PRKAG2, com idades entre 9 meses e 12 anos e diagnóstico genético comprovado, foram submetidos à ecocardiografia convencional e por técnicas avançadas, tendo seus achados comparados aos de grupo controle composto por sete voluntários pareados por sexo e idade, hígidos do ponto de vista cardiovascular. Um valor de p < 0,05 foi considerado significante. Resultados: A ecocardiografia convencional mostrou valores aumentados com significância estatística no grupo caso para átrio esquerdo, septo interventricular, parede posterior do ventrículo esquerdo, massa ventricular indexada e espessura relativa da parede (p < 0,05). O strain sistólico longitudinal global obtido pelo ecocardiograma bidimensional não mostrou diferença estatisticamente significativa entre os grupos caso e controle. Nenhum dos parâmetros ao ecocardiograma tridimensional apresentou significância estatística entre os grupos. Conclusão: Crianças diagnosticadas com PRKAG2 demonstraram achados ecocardiográficos indicativos de tendência à hipertrofia cardíaca. A ecocardiografia pode ser uma ferramenta útil na avaliação e seguimento desse grupo de pacientes, antes do início de manifestações clínicas.

Abstract Background: PRKAG2 syndrome typically manifests in adolescence and early adulthood, progressing with left ventricular hypertrophy, arrhythmias, and risk of sudden death. Findings of echocardiographic markers before clinical manifestation in children of patients affected by the disease can facilitate prevention strategies and therapeutic planning for this patient group. Objective: To identify the existence of echocardiographic findings that manifest early in children of parents affected by PRKAG2 syndrome, while they are still asymptomatic. Methods: In this cross-sectional observational study, 7 participants who were children of parents with established diagnosis of PRKAG2 syndrome, between the ages of 9 months and 12 years, with proven genetic diagnosis, underwent conventional and advanced echocardiography. Their findings were compared to those of a control group composed of 7 age- and sex-matched volunteers who were healthy from a cardiovascular point of view. P values < 0.05 were considered significant. Results: Conventional echocardiography showed statistically significantly higher values in the case group for left atrium, interventricular septum, left ventricular posterior wall, indexed ventricular mass, and relative wall thickness (p < 0.05). Global longitudinal systolic strain on 2-dimensional echocardiography did not show statistical significance between the case and control groups. None of the parameters on 3-dimensional echocardiography showed statistical significance between groups. Conclusion: Children diagnosed with PRKAG2 showed echocardiographic findings indicative of a tendency toward cardiac hypertrophy. Echocardiography can be a useful tool in the evaluation and follow-up of this patient group before the onset of clinical manifestations.

Comparacão dos Parâmetros Ecocardiográficos Convencionais e com Speckle Tracking entre Indivíduos Saudáveis e Transplantados Cardíacos sem Rejeição / Comparative Analysis of Conventional and Speckle Tracking Echocardiographic Variables between Patients with Unrejected Heart Transplants and Healthy Individuals

Resumo Fundamento A ecocardiografia é essencial para avaliação do coração transplantado. No entanto, os valores de normalidade no transplante cardíaco (TC) não estão claramente definidos. Objetivos: Comparar parâmetros ecocardiográficos convencionais e pela técnica de Speckle Tracking entre pacientes transplantados cardíacos sem rejeição e uma população de indivíduos saudáveis. Métodos Foram estudados prospectivamente pacientes adultos, com menos de 1 ano de TC, que realizaram biópsia endomiocárdica de vigilância seguido de ecocardiograma transtorácico (ETT). Medidas convencionais de ETT acrescidas da avaliação de mecânica cardíaca por meio do Strain pelo Speckle Tracking foram realizadas e comparadas com um grupo de voluntários saudáveis. A significância estatística adotada para o estudo foi de 5%. Resultados Avaliou-se 36 pacientes transplantados sem rejeição, os quais foram comparados com 30 indivíduos saudáveis. Observou-se redução nos valores de Strain Global Longitudinal de Ventrículo Esquerdo em valor absoluto (11,99% transplantados, 20,60% controle, p<0,0001), Strain de parede livre de Ventrículo Direito (transplantados 16,67%, controle 25,50%, p<0,0001) e dos índices de trabalho miocárdico (p<0,0001), maior tamanho do átrio esquerdo (38,17 ml/m2 transplantados, controle 18,98 ml/m2, p<0,0001), maior índice de massa e espessura relativa das paredes (p<0,0001) e a presença da Doença de Chagas como principal etiologia para o transplante. Conclusão Os transplantados cardíacos estáveis e sem rejeição apresentaram diferenças com relação aos parâmetros ecocardiográficos comparados com indivíduos saudáveis. Estes achados indicam que medidas ecocardiográficas convencionais e de mecânica cardíaca são alteradas em transplantados mesmo na ausência de rejeição e podem ser relevantes para o contexto clínico e acompanhamento dos pacientes.

Abstract Background Echocardiography is essential for the assessment of patients with heart transplants. However, normal values in such individuals are not clearly defined. Objectives To compare conventional echocardiographic and speckle tracking variables between patients with unrejected heart transplants and healthy individuals. Methods : A prospective study was conducted with adult patients having undergone heart transplantation at least one year earlier and submitted to endomyocardial biopsy followed by transthoracic echocardiogram (TTE). Conventional TTE measures and mechanical heart strain assessments using speckle tracking were performed and the results were compared to those of a group of healthy volunteers. Statistical significance was set at 5% (p < 0.05). Results Thirty-six transplant patients without rejection were analyzed and compared to 30 healthy individuals. Chagas disease was the main reason for transplantation. Lower left ventricular global longitudinal strain expressed in absolute values was found (11.99% in transplant patients vs. 20.60% in controls; p <0.0001), right ventricular free wall longitudinal strain (16.67% in transplant patients vs. 25.50% in controls; p <0.0001) and myocardial work indices (p < 0.0001) as well as a larger size of the left atrium (38.17 ml/m2 in transplant patients vs. 18.98 ml/m2 in controls; p <0.0001) and greater mass and relative wall thickness (p <0.0001). Conclusion Stable patients having undergone heart transplants without rejection have differences concerning echocardiographic variables compared to healthy individuals. These findings indicate that conventional echocardiographic measures and heart mechanics are altered in transplant patients even in the absence of rejection. Such findings are relevant to the clinical context and follow-up of the patient.

The prevalence of congenital heart disease in newborn detected by pulse oximeter screening test at 24 hours of birth and its correlation with clinical findings and ECHO

Background: Detecting congenital heart disease (CHD) early is crucial for better outcomes, but most newborns show no symptoms. Newborn screening for CHD can identify such cases preventing serious consequences. This study aims to determine CHD prevalence and evaluate the effectiveness of pulse oximeter screening and clinical examination, correlating them with echocardiography findings.Methods: A cross-sectional study was conducted to screen for CHD in all newborns born in our institution over a period of 3 months. A sample of 660 newborns were screened by pulse oximeter screening and clinical examination after random sampling.Results: Comparison of baseline data like age distribution in mothers, gender and gestational age were comparable between newborns with CHD and those without CHD. A total of 8 CHDs were picked up after screening 660 newborns screened during a period of 3 months. CHDs that were picked up included hypoplastic left heart syndrome, pulmonary atresia, bicuspid aortic valve, transposition of great arteries, coarctation of the aorta, and other complex CHDs. It was found that either clinical examination or pulse oximeter screening has higher sensitivity than pulse oximetry screening or clinical examination alone.Conclusions: For identification of a CHD in newborns after 24 hours of birth the order of preference for screening based on sensitivity is as follows-either pulse oximeter screening or clinical examination >clinical examination >pulse oximeter screening >pulse oximeter screening and clinical examination.

Echocardiographic assessment of right ventricular function status in children with congenital heart disease with irreversible and reversible pulmonary hypertension compared to normal children

Background: Right ventricular (RV) dysfunction is prevalent in children with congenital heart disease (CHD), particularly in association with pulmonary hypertension (PH). Transthoracic echocardiography (TTE) is crucial for detecting, assessing severity, and monitoring CHD patients with PH. The current study aimed to compare RV function assessed by TTE between CHD patients with PH and healthy children.Methods: The case group comprised CHD patients diagnosed with PH via TTE and confirmed by cardiac catheterization. The control group included children with normal echocardiograms. A total of 40 patients were enrolled based on predefined criteria.Results: The study included 20 cases and 20 controls. Echocardiographic parameters revealed significant differences between the case and control groups, with increased RV dimensions in the case group, except for RV subcostal wall thickness. RV systolic function parameters, including tricuspid annular plane systolic excursion (TAPSE) and tricuspid annular systolic velocity (S'), were significantly lower in the case group. RV diastolic function parameters, including E/A ratio, E/e', and deceleration time (DT), were also significantly different between the groups. The RV global function parameter, tissue Doppler imaging-derived myocardial performance index (TD MPI), was significantly higher in the case group.Conclusions: Echocardiographic evaluation of RV function, including TAPSE, S', TD MPI, E/A ratio, E/e', and DT, in CHD children with PH correlates with PH severity. This assessment can aid in early detection of PH severity before irreversible changes occur and serve as an alternative to right heart catheterization.

Pregnancy with severe hypertrophic obstructive cardio myopathy fighting against all odds: a case report

Hypertrophic obstructive cardiomyopathy (HOCM) is an inherited condition causing left ventricular outflow tract (LVOT) obstruction, with a prevalence of 1 in 500. Widespread use of echocardiography has led to this disorder being increasingly diagnosed in pregnant women. Knowledge of HOCM is imperative for obstetricians. Pregnancy is generally well tolerated in HOCM but women who are symptomatic pre pregnancy or have significant LVOT obstruction can develop complications such as heart failure, arrhythmias and sudden cardiac death.

Prevalence of cardiac complications in perinatally acquired human immunodeficiency virus infection in children in Southern India: an observational study

Background: Human immunodeficiency virus (HIV) infection is a multisystemic illness that impacts most organ system, to investigate prevalence of cardiovascular abnormalities in children with perinatally acquired HIV infection.Methods: This observational study was conducted in a tertiary care centre in Southern India. HIV-positive children between the ages of 18 months and 15 years were included. Cardiac abnormalities were defined as abnormalities identified on 2D echocardiography and/or electrocardiogram.Results: The 73 children with HIV infection had their cardiac manifestations assessed. Median age of children was 8 years with 52% of female participants, 22 (30.13%) children had cardiac abnormalities, of which 5 (27.27%) were symptomatic. Overall, 21/22 (95.45%) children had abnormalities on their ECG, 16 (72.72%) had abnormalities on 2D echocardiography. Of these, we found that children with delayed diagnosis of HIV infection and with more advanced clinical and immunological staging in HIV are more prone to develop cardiac complications irrespective of antiretroviral therapy (ART).Conclusions: HIV-related heart involvement is not uncommon, rather occur subclinical. A decreasing CD4 count and worsening clinical status are associated with increased risk. Hence its crucial to screen the children, diagnose at the earliest and timely manage the complications appropriately for prevention of early mortality.

Prevalencia, caracterización y pronóstico de pacientes con sospecha de insuficiencia cardíaca en atención primaria de salud en Chile / Characterization and prognosis of patients with suspected heart failure at primary health care institutions in Chile

Introducción: La insuficiencia cardíaca (IC) tiene alta morbilidad y mortalidad. Su diagnóstico temprano en atención primaria de salud (APS) es un reto dada la baja especificidad de sus criterios clínicos y las limitaciones en acceso a técnicas diagnósticas. Objetivo: Analizar la prevalencia de IC, subtipos y pronóstico de pacientes con disnea y/o edema de extremidades inferiores que consultan en APS. Metodología: Se trata de un estudio prospectivo de 340 pacientes en APS, sin diagnóstico previo de IC. Se realizó una evaluación clínica, electrocardiograma, NT-proBNP "point-of-care", ecocardiografía con interpretación telemática por cardiólogos. Utilizando los algoritmos HFA-PEFF y H2FPEF se clasificaron los pacientes como :1) IC con fracción de eyección (FE) reducida (ICFER); 2) IC con FE preservada (ICFEP) y 3) pacientes sin diagnóstico de IC. Se efectuó un análisis de sobrevida de los diferentes grupos. Resultados: La prevalencia de ICFER fue 8%, ICFEP por HFA-PEFF 42% y por H2FPEF 8%. Los algoritmos sugieren efectuar un estudio complementario en el 47% con HFA-PEFF y 76% con H2FPEF (p<0.05). La sobrevida global a 36 meses fue 90±2% y cardiovascular 95±1%. Usando HFA-PEFF, los pacientes con IC tuvieron menor sobrevida que aquellos sin IC (HR 2.3, IC95% 1.14.9; p=0.029). No hubo diferencias de mortalidad con H2FPEF. Conclusiones: En pacientes de APS que consultan por disnea y/o edema de extremidades inferiores sometidos a evaluación con NT-proBNP y ecocardiografía, se observó una prevalencia de IC de hasta 50%, 8% de ICFER y 42% de ICFEP. La caracterización de IC utilizando HFA-PEFF está asociada al pronóstico vital.

Background: Heart failure (HF) is a condition associated with high morbidity and mortality. Its early diagnosis in primary health care (PHC) represents a substantial challenge, considering its non-specific clinical manifestations and the limitations on timely access to diagnostic techniques. Objective: To evaluate the prevalence of HF, characterize subtypes and determine the prognosis of patients consulting in PHC for dyspnea Edema of the lower extremities. Methods: Prospective study in 340 patients who consulted in PHC, without previous diagnosis of HF. Clinical evaluation, electrocardiogram, NT-proBNP point-ofcare and echocardiography with telematic interpretation by cardiologists were performed. Using the HFA-PEFF and H2FPEF algorithms patients were classified as: 1) HF with reduced ejection fraction (HFREF); 2) HF with preserved ejection fraction (HFPEF) and 3) No HF. Actuarial survival analyses were performed. Results: We observed a prevalence of HFREF of 8%, high probability of HFPEF by HFA-PEFF in 42% and by H2FPEF in 8%. Intermediate probability of HFPEF, requiring complementary study, was observed in 47% of patients with HFA-PEFF and 76% of patients with H2FPEF (p<0.05). Overall survival at 36 months was 90±2% and cardiovascular survival at 36 months was 95±1%. Using HFA-PEFF, patients with HF presented lower overall survival compared to patients with no HF (HR 2.3, 95%CI 1.1-4.9; p=0.029). We did not observe mortality differences with H2FPEF. Conclusions: In patients consulting for dyspnea and/or lower extremity edema at PHC and undergoing evaluation with NT-proBNP and echocardiography, we observed a HF prevalence of 50%. HF classification through HFA-PEFF was associated with lower survival rates.

Avaliação Cintilográfica e Ecocardiográfica em Portadores de Variantes Patogênicas ou Provavelmente Patogênicas do Gene TTR sem Envolvimento Cardíaco Manifesto / Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement

Resumo Fundamento: A amiloidose por transtirretina (ATTR) é uma doença infiltrativa causada pela deposição anormal de proteína principalmente no coração e no sistema nervoso periférico. Quando acomete o coração, a doença manifesta-se como uma cardiomiopatia restritiva e, quando afeta o sistema nervoso periférico e autônomo, apresenta-se como uma polineuropatia, podendo ser chamada de Polineuropatia Amiloidótica Familiar (PAF). Existem dois subtipos de ATTR, a ATTR selvagem, em que não há variantes genéticas, e a ATTR hereditária, caracterizada por uma variante no gene que codifica a proteína transtirretina (T/TR). Em ambos os subtipos, o envolvimento cardíaco é o principal marcador prognóstico. Objetivos: Avaliar a prevalência do envolvimento cardíaco subclínico em uma amostra de pacientes com variantes genéticas no gene TTR usando a cintilografia com pirofosfato e o ecocardiograma com strain; comparar os achados cintilográficos e as medidas de strain; avaliar a associação entre PAF e o envolvimento subclínico; e analisar se existe uma associação entre uma variante genética específica e o envolvimento cardíaco. Métodos: Estudo transversal com carreadores de variantes no gene TTR sem sintomas cardiovasculares e sem alterações nos parâmetros da eletrocardiografia ou do ecocardiograma convencional. Todos os pacientes foram submetidos à cintilografia com pirofosfato e à ecocardiografia com análise de strain. O envolvimento cardíaco subclínico, definido como um escore de Perugini ≥ 2, razão Coração (C)/ Hemitórax Contralateral (CL) ≥ 1,5 em uma hora, C/CL ≥ 1,3 na terceira hora, ou um strain longitudinal global (SGL) ≤ −17%. Realizadas análises descritiva e analítica, e aplicados o teste exato de Fisher e o teste de Mann-Whitney. Um valor de p<0,05 foi considerado significativo. Resultados: Os 23 pacientes avaliados apresentavam uma idade mediana de 51 (37-57) anos, 15 (65,2%) eram do sexo feminino, 12 (52,2%) eram pardos, nove (39,1%) apresentavam hipertensão arterial sistêmica, e nove (39,1%) tinham um diagnóstico prévio de PAF. Dos nove pacientes com PAF, oito (34,8%) usavam tafamidis. As variantes genéticas identificadas foram Val142IIe, Val50Met e IIe127Val. O valor mediano do SGL foi −19% (-16% - −20%). Dos 23 pacientes, nove (39,1%; 95% CI = 29-49%) preencheram os critérios de envolvimento cardíaco, seis (26%) somente pelo critério do SGL. Não houve associação entre PAF e um carreador assintomático avaliado por ecocardiograma com análise de strain e pela cintilografia com pirofostato (p=0,19). A prevalência de hipertensão arterial sistêmica, diabetes mellitus, dislipidemia, tabagismo e SGL reduzido não foi diferente entre os grupos. A velocidade da onda e' septal foi a única variável que apresentou diferença significativa entre os indivíduos com e sem SGL reduzido, com uma área sob a curva ROC de 0,80 (IC95% = 0,61-0,98, p = 0,027). A melhor acurácia diagnóstica foi alcançada com uma velocidade e' septal ≤ 8,5 cm/s. Não houve associação entre o tipo de variante genética e o envolvimento cardíaco pré-clínico, nem entre o uso de tafamidis e este mesmo envolvimento (37,5% versus 40,0%, p = 0,90). Conclusão: O envolvimento cardíaco subclínico foi frequente em uma amostra de carreadores da variante genética do gene TTR. Um valor do SGL reduzido foi o achado mais comum. Não houve associação entre a presença de polineuropatia amiloidótica e o envolvimento subclínico. O tipo de variante genética não foi associado com envolvimento cardíaco precoce. Nesta amostra, o uso de tafamidis (20mg/dia) não foi associado com uma menor prevalência de envolvimento cardíaco subclínico.

Abstract Background: Transthyretin amyloidosis (ATTR) is an infiltrative disease caused by abnormal protein deposition mainly in the heart and peripheral nervous system. When it affects the heart, the disease presents as restrictive cardiomyopathy; when it affects the peripheral and autonomic nervous system, it manifests as polyneuropathy, and is called familial amyloid polyneuropathy (FAP). There are two ATTR subtypes: wild-type ATTR, where there is no mutation, and mutant ATTR (ATTRm), which is characterized by a mutation in the gene encoding the transthyretin protein (TTR). In both subtypes, cardiac involvement is the major marker of poor prognosis. Objectives: To assess the prevalence of subclinical cardiac involvement in a sample of patients with TTR gene mutation by using pyrophosphate scintigraphy and strain echocardiography; to compare scintigraphy and strain findings; to evaluate the association between neurological manifestations (FAP) and subclinical cardiac involvement; and to analyze whether there is an association between any specific mutation and cardiac involvement. Methods: This is a cross-sectional study with carriers of the TTR gene mutation, without cardiovascular symptoms or changes in electrocardiographic or conventional echocardiographic parameters. All patients underwent pyrophosphate scintigraphy and strain echocardiography. Subclinical cardiac involvement was defined as a Perugini score ≥ 2, heart-to-contralateral lung (H/CL) ratio ≥ 1.5 at 1 h, H/CL ≥1.3 at 3 h, or global longitudinal strain (GLS) ≤ −17%. Descriptive and analytical analyses were performed and Fisher's exact test and Mann-Whitney test were applied. A value of p < 0.05 was considered significant. Results: The 23 patients evaluated had a median age of 51 years (IQR 37-57 years), 15 (65.2%) were female, 12 (52.2%) were Pardo, nine (39.1%) had systemic arterial hypertension, and nine (39.1%) had a previous diagnosis of FAP. Of the nine patients with FAP, 8 (34.8%) were on tafamidis. The associated mutations were Val142IIe, Val50Met, and IIe127Val. The median GLS in the sample was −19% (−16% to −20%). Of the 23 patients, nine (39.1%; 95% CI = 29-49%) met criteria for cardiac involvement, six (26%) by the GLS-based criteria only. There was no association between having FAP and being an asymptomatic carrier, as assessed by strain echocardiography and pyrophosphate scintigraphy (p = 0.19). The prevalence of systemic arterial hypertension, diabetes mellitus, dyslipidemia, smoking, and reduced GLS did not differ between groups. Septal e' wave velocity was the only variable that significantly differed between individuals with and without reduced GLS, with an area under the ROC curve of 0.80 (95% CI = 0.61-0.98, p = 0.027). The best diagnostic accuracy was achieved with a septal e' velocity ≤ 8.5 cm/s. There was no association between mutation type and preclinical cardiac involvement, nor between tafamidis use and lower degree of cardiac involvement (37.5% versus 40.0%, p = 0.90). Conclusion: Subclinical cardiac involvement was common in a sample of TTR mutation carriers without cardiac involvement. Reduced left ventricular GLS was the most frequent finding. There was no association between the presence of amyloid polyneuropathy and subclinical cardiac involvement. Type of mutation was not associated with early cardiac involvement. In this sample, the use of tafamidis 20 mg/day was not associated with a lower prevalence of subclinical cardiac involvement.

Interesting case report on Chiari network

The Chiari network is a congenital remnant that is typically found in the right atrium and is generally not associated with significant pathophysiological implications. Usually, this is detected on general routine health checkup screening or casual examination. But, occasionally in certain cases, it is possible for this condition to results in diagnostic ambiguity when assessing right atrial disorders. Additionally, it has potential to contribute to the development of thromboembolism by inducing flow blockage. The Chiari network can be accurately diagnosed by echocardiography. This network appear as a highly mobile, highly reflectant echo target at many regions in the right atrium during transthoracic and transesophageal echocardiography. In this study, we provide a case involving an 18 year old male students studying cardiac technology who was diagnosed incidentally during echocardiography practical classes with Chiari network, mild TR and mild PR. The value and precision of echocardiography are becoming more widely recognized and being used more frequently. The potential for finding normal anatomical variations and their potential incorrect interpretation as pathological states coincides with the wider implementation of this imaging method.

Feasibility of fetal echocardiography screening during first trimester in a low-risk population

Background: Prenatal identification of cardiac defect gives families the opportunity to receive counselling regarding the anticipated fetal and neonatal outcomes. Screening and diagnosis of congenital heart disease in the first trimester has increased over the past decade as almost all CHDs are already established by that time. Objective was to assess the feasibility of screening through first trimester echocardiography by a trained observer in low-risk populations.Methods: The study was conducted on a sample of 500 antenatal mothers of gestational age between 11-13 weeks+6 days attending a teaching hospital. Maternal age, weight, height, body mass index, parity, gestational age, obstetric history and past history were recorded. In addition to first trimester ultrasound screening for aneuploidy in foetuses, a simplified echocardiographic examination was performed. After obtaining the appropriate fetal position, Crown-rump length was documented. Nuchal translucency thickness was recorded. After examination with 2-dimensional sonography, the operator obtained the tricuspid flow and ductus venosus flow. Color flow mapping was applied for evaluating the 4-chamber view and three vessel tracheal views. Specific criteria developed for the 4-chamber view, 3 vessel trachea view, tricuspid flow and ductus venosus flow was used to assess feasibility.Results: Good feasibility was observed for all the views, with tricuspid flow showing 96% feasibility, Ductus Venosus showing 95% feasibility, 3VT view showing 90.1% feasibility and 4CV view having 89.7% feasibility. There was no significant association found between maternal BMI, CRL and the feasibility of fetal cardiac screening.Conclusions: Encouraging results of this study indicates the feasibility of fetal cardiac screening in low-risk population.

Papel da Rigidez Aórtica na Previsão da Resposta aos Inibidores da Fosfodiesterase-5 no Tratamento da Disfunção Erétil / Role of Aortic Stiffness in Predicting Response to Phosphodiesterase-5 Inhibitors in the Treatment of Erectile Dysfunction

Resumo Fundamento: Sabe-se que a rigidez aórtica (RA) aumenta em pacientes com disfunção erétil (DE). Os inibidores da enzima fosfodiesterase tipo 5 (PDE-5) são usados no tratamento da DE, e as respostas dos pacientes a esse tratamento podem variar. Objetivos: Nosso objetivo foi investigar o papel da RA na previsão da resposta de pacientes planejados para tomar inibidores da enzima PDE-5 devido à DE. Métodos: Um total de 96 pacientes do sexo masculino com DE foram incluídos no estudo. O questionário do Índice Internacional de Função Erétil (IIEF) foi utilizado para avaliar a presença e gravidade da DE e a resposta ao tratamento. A ecocardiografia transtorácica foi utilizada para avaliar RA. Resultados: Houve diferença estatisticamente significativa entre os valores de deformação aórtica e distensibilidade aórtica dos grupos de estudo (p<0,001). O escore delta IIEF apresentou alto nível de correlação positiva com a deformação aórtica (p<0,01, r=0,758) e um nível moderado de correlação positiva com a distensibilidade aórtica (p<0,01, r=0,574). Conclusão: Determinamos que em pacientes com DE, a deformação aórtica e a distensibilidade aórtica medidas de forma não invasiva por meio de ecocardiografia transtorácica são parâmetros importantes na previsão da resposta dos pacientes à terapia com inibidores da PDE-5.

Abstract Background: It is known that aortic stiffness (AS) increases in patients with erectile dysfunction (ED). Phosphodiesterase type-5 (PDE-5) enzyme inhibitors are used in the treatment of ED, and patients' responses to this treatment may vary. Objectives: We aimed to investigate the role of AS in predicting the response of patients planned to take PDE-5 enzyme inhibitors due to ED. Methods: A total of 96 male patients with ED were included in the study. The International Index of Erectile Function (IIEF) questionnaire was used to evaluate the presence and severity of ED and the response to treatment. Transthoracic echocardiography was used to evaluate AS. Results: There was a statistically significant difference between the aortic strain and aortic distensibility values of the study groups (p<0.001). The delta IIEF score had a high level of positive correlation with aortic strain (p<0.01, r=0.758) and a moderate level of positive correlation with aortic distensibility (p<0.01, r=0.574). Conclusion: We determined that in patients with ED, aortic strain and aortic distensibility measured non-invasively using transthoracic echocardiography are important parameters in predicting patients' response to PDE-5 inhibitor therapy.

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.