Perinatal Results and Long-Term Follow-Up of Fetal Cardiac Tumors: A 30-Year Historical Cohort Study. / Resultados Perinatais e Seguimento em Longo Prazo de Tumores Cardíacos Fetais: Estudo de Coorte Histórica de 30 Anos.

BACKGROUND: This was a 30-year retrospective cohort study that approximates closely to the natural history of cardiac tumors diagnosed in the fetus, since there was no case of pregnancy interruption. OBJECTIVE: To assess morbidity and mortality in the perinatal period and at long term in fetuses diagnosed with cardiac tumor. Our secondary objective was to assess the evaluating factors of perinatal and postnatal results. METHODS: This was a retrospective cohort study with 74 pregnant women with an echocardiographic diagnosis of fetal cardiac tumor at two referral centers between May 1991 and November 2021. A descriptive analysis was performed, and data were expressed as absolute (n) and relative (%) frequencies, median and interquartile range. Fisher's exact test was used to evaluate the association of echocardiographic characteristics and clinical manifestations with perinatal and postnatal results. Global survival was calculated using the Kaplan-Meier method and the curves were compared by the log-rank test. The time of follow-up, calculated in months, corresponded to the time elapsed from hospital discharge to current status (survived/ censoring or death). The level of significance was set at 5% (p<0.05). RESULTS: Rhabdomyoma is the most common type of cardiac tumor (85%), with a high morbidity (79.3%) and overall mortality of 17.4%. The presence of fetal hydrops was a predictor of death. CONCLUSION: The presence of fetal hydrops had an impact on mortality, and hence is an important factor in counselling and determining the prognosis. Most deaths occurred before hospital discharge.

FUNDAMENTO: Seguimento de coorte retrospectiva de 30 anos que se aproxima da história natural dos tumores cardíacos diagnosticados no feto uma vez que nenhum caso foi submetido à interrupção da gestação. OBJETIVO: Avaliar a morbidade e mortalidade perinatal e em longo prazo em fetos com diagnóstico de tumor cardíaco. Como objetivo secundário avaliar os fatores que influenciaram os resultados perinatais e pós-natais. MÉTODO: Estudo de coorte retrospectiva envolvendo 74 gestantes com diagnóstico ecocardiográfico fetal de tumor cardíaco acompanhadas em dois serviços de referência no período de maio de 1991 a novembro de 2021. Foi realizada análise descritiva dos dados por meio de frequências absolutas (n) e relativas (%), mediana e intervalos interquartis. Para avaliar a associação entre as características ecocardiográficas e as manifestações clínicas com os resultados perinatais e pós-natais, foi aplicado o teste exato de Fisher. O cálculo da sobrevida global foi realizado pelo método de Kaplan-Meier e a comparação de curvas pelo teste de log-rank. O tempo de seguimento, calculado em meses, foi definido a partir da data de alta do hospital à data do status atual (vivo/censura ou óbito). O nível de significância considerado foi de 5% (p<0,05). RESULTADOS: o rabdomioma é o tipo mais frequente (85%) de tumor cardíaco; apresenta alta morbidade (79,3%) e mortalidade geral de 17,4%; a presença de hidropisia fetal preditiva de óbito. CONCLUSÃO: A presença de hidropisia fetal teve impacto na mortalidade, sendo fator importante para aconselhamento e estabelecimento de prognóstico. A maioria dos óbitos ocorrem antes da alta hospitalar.

Resultados Perinatais e Seguimento em Longo Prazo de Tumores Cardíacos Fetais: Estudo de Coorte Histórica de 30 Anos / Perinatal Results and Long-Term Follow-Up of Fetal Cardiac Tumors: A 30-Year Historical Cohort Study

Resumo Fundamento: Seguimento de coorte retrospectiva de 30 anos que se aproxima da história natural dos tumores cardíacos diagnosticados no feto uma vez que nenhum caso foi submetido à interrupção da gestação. Objetivo: Avaliar a morbidade e mortalidade perinatal e em longo prazo em fetos com diagnóstico de tumor cardíaco. Como objetivo secundário avaliar os fatores que influenciaram os resultados perinatais e pós-natais. Método: Estudo de coorte retrospectiva envolvendo 74 gestantes com diagnóstico ecocardiográfico fetal de tumor cardíaco acompanhadas em dois serviços de referência no período de maio de 1991 a novembro de 2021. Foi realizada análise descritiva dos dados por meio de frequências absolutas (n) e relativas (%), mediana e intervalos interquartis. Para avaliar a associação entre as características ecocardiográficas e as manifestações clínicas com os resultados perinatais e pós-natais, foi aplicado o teste exato de Fisher. O cálculo da sobrevida global foi realizado pelo método de Kaplan-Meier e a comparação de curvas pelo teste de log-rank. O tempo de seguimento, calculado em meses, foi definido a partir da data de alta do hospital à data do status atual (vivo/censura ou óbito). O nível de significância considerado foi de 5% (p<0,05). Resultados: o rabdomioma é o tipo mais frequente (85%) de tumor cardíaco; apresenta alta morbidade (79,3%) e mortalidade geral de 17,4%; a presença de hidropisia fetal preditiva de óbito. Conclusão: A presença de hidropisia fetal teve impacto na mortalidade, sendo fator importante para aconselhamento e estabelecimento de prognóstico. A maioria dos óbitos ocorrem antes da alta hospitalar.

Abstract Background: This was a 30-year retrospective cohort study that approximates closely to the natural history of cardiac tumors diagnosed in the fetus, since there was no case of pregnancy interruption Objective: To assess morbidity and mortality in the perinatal period and at long term in fetuses diagnosed with cardiac tumor. Our secondary objective was to assess the evaluating factors of perinatal and postnatal results. Methods: This was a retrospective cohort study with 74 pregnant women with an echocardiographic diagnosis of fetal cardiac tumor at two referral centers between May 1991 and November 2021. A descriptive analysis was performed, and data were expressed as absolute (n) and relative (%) frequencies, median and interquartile range. Fisher's exact test was used to evaluate the association of echocardiographic characteristics and clinical manifestations with perinatal and postnatal results. Global survival was calculated using the Kaplan-Meier method and the curves were compared by the log-rank test. The time of follow-up, calculated in months, corresponded to the time elapsed from hospital discharge to current status (survived/ censoring or death). The level of significance was set at 5% (p<0.05). Results: Rhabdomyoma is the most common type of cardiac tumor (85%), with a high morbidity (79.3%) and overall mortality of 17.4%. The presence of fetal hydrops was a predictor of death. Conclusion: The presence of fetal hydrops had an impact on mortality, and hence is an important factor in counselling and determining the prognosis. Most deaths occurred before hospital discharge.

Effects of different strength training protocols on sarcopenia influencing parameters in older adults: a systematic review / Efeitos de diferentes protocolos de treinamento de força sobre parâmetros influenciadores da sarcopenia em idosos: uma revisão sistemática

INTRODUCTION: Sarcopenia is characterized by the reduction of skeletal muscle mass and its functionality. Several of the parameters that influence sarcopenia are modified by strength training. OBJECTIVE: To review the effects of different strength training protocols (frequency, duration, and intensity) on parameters that influence sarcopenia. METHODS: This is a systematic review of original, quantitative, observational studies, published between 2010 in 2020, in English, Spanish and Portuguese, and indexed in the SciELO, PubMed, and CAPES databases. The terms used search were: "muscle strenght" ("força muscular", "fuerza muscular"), "sarcopenia" ("sarcopenia"), "aging" ("envelhecimento", "envejecimiento"), "olders" ("idosos", "ancianos"), "strength training" ("treinamento de força/resistência", "entrenamiento de fuerza"). 215 articles were retrieved and 11 met the inclusion criteria, being included in the review. RESULTS: Among the 11 studies analyzed, it is observed that strength training applied in different protocols was efficient in improving parameters such as muscle mass and strength, body balance, and performance in diagnostic tests of sarcopenia. CONCLUSION: This review highlights the benefits of the practice of strength exercise in different protocols on parameters that influence the onset of sarcopenia in older adults. The exercise of strength is presented as an applicable, practical, and non-pharmacological means of preventing sarcopenia.

INTRODUÇÃO: A sarcopenia é considerada uma patologia caracterizada pela redução da massa muscular esquelética e da sua funcionalidade, sendo que vários dos parâmetros que influenciam sobre a sarcopenia sofrem interferência do treinamento de força. OBJETIVO: Revisar os efeitos dos diferentes protocolos de treinamento de força (frequência, duração e intensidade) sobre parâmetros influenciadores da sarcopenia. MÉTODOS: Trata-se de uma revisão sistemática de estudos originais, quantitativos, observacionais, publicados entre 2010 a 2020, em inglês, espanhol e português, e indexados nas bases de dados SciELO, PubMed e periódico CAPES. Os descritores utilizados foram: "força muscular" ("muscle strenght", "fuerza muscular"), "sarcopenia" ("sarcopenia"), "envelhecimento" ("aging", "envejecimiento"), "idosos" ("olders, "ancianos"), "treinamento de força/resistência" ("strength training", "entrenamiento de fuerza"). Foram recuperados 215 artigos, entre eles 11 atenderam aos critérios de inclusão, sendo incluídos na revisão. RESULTADOS: Dentre os 11 estudos analisados, observa-se que o treinamento de força aplicado em diferentes protocolos foi eficiente em aperfeiçoar parâmetros como massa e força musculares, equilíbrio corporal e desempenho em testes diagnósticos de sarcopenia. CONCLUSÃO: Esta revisão evidencia os benefícios da prática de exercício de força em diferentes protocolos sobre parâmetros que influenciam na instalação do quadro de sarcopenia em idosos. O exercício de força se apresenta como meio aplicável, prático e não farmacológico da prevenção de sarcopenia.

Baseline Diet Quality Is Related to Changes in the Body Composition and Inflammatory Markers: An Intervention Study Based on Resistance Training and Nutritional Advice.

Habitual food intake and physical activity can affect chronic low-grade inflammation, which is common in the elderly, because of changes in the immune system and body composition. Thus, the present study proposes an evaluation of the influence of past eating habits on the effects of an intervention of resistance training plus dietary advice on the inflammatory profile of the elderly. We conducted an intervention study with 40 elderly people. The Revised Diet Quality Index (HEI-R) and the dietary total antioxidant capacity (dTAC) were calculated before the intervention based on a food frequency questionnaire validated to the elderly population. Participants were categorized according to the median of HEI-R and dTAC to assess the influence of the habitual diet quality on anthropometry and inflammatory markers (CRP, IL-8, CCL-2, and leptin) before and after the intervention. The 19-week intervention provided a long-term progressive resistance training associated with dietary advice focused on foods rich in compounds with anti-inflammatory and antioxidant properties. There was a greater reduction in weight, body mass index (BMI), and body fat (%) in the group with the lowest HEI-R and a greater reduction in the body fat (%) in the group with the lowest dTAC, indicating that the group that had a worse diet quality before the intervention responded better to it. The index HEI-R correlated negatively with Δweight and ΔBMI. dTAC correlated positively with Δmonocyte 1 chemotactic protein (CCL-2) and ΔC-reactive protein (CRP). In this scenario, elderly persons with bad habits can benefit from interventions to lifestyle change, while the better diet quality including dietary antioxidant sources can be useful to control weight and inflammatory biomarkers in this population.

Resistance Training Associated with Dietetic Advice Reduces Inflammatory Biomarkers in the Elderly.

Aging is a biological process during which chronic low-grade inflammation is present due to changes in the immune system of the elderly. The main objective of this study is to evaluate the effects of resistance training associated with dietary advice on chronic inflammation in the elderly. We conducted a prospective intervention study in which we evaluated anthropometric parameters and inflammatory biomarkers (CRP, IL-8, CCL-2, and leptin) in 40 elderly people before and after long-term progressive resistance training (19 weeks) associated with dietary advice. The participants trained twice a week on nonconsecutive days, and the training lasted one hour with an intensity of 60-85% of 1-MR. Dietary advice was explained in person and individually focusing on foods rich in compounds with anti-inflammatory and antioxidant properties. Participants were instructed at the beginning of the training program, and dietary advice was reinforced verbally weekly. There was an improvement in body composition evidenced by a reduction in waist circumference and body fat percentage and by the increase in arm circumference, calf circumference, and corrected arm muscle area. In addition, there was a reduction in the inflammatory biomarkers CCL-2 (p = 0.01) and leptin (p < 0.01). Resistance training associated with dietary guidance can contribute to a healthy aging due to observed improvements in body composition and in the inflammatory profile of the elderly.

Brazilian fetal cardiology guidelines ­ 2019 / Diretriz brasileira de cardiologia fetal ­ 2019

Over the years, Fetal Cardiology have been incorporated into the daily practice of Pediatric Cardiology. What was once restricted to a few fetal heart researchers, has slowly been incorporated into health institutions that deal with congenital heart diseases (CHD). Fetal echocardiography has generated extensive knowledge of the natural and modified history of heart diseases in utero, and normal fetal heart physiology and anatomy. The benefits of fetal diagnosis have become unquestionable over the years. Pioneers in the area succeeded in demystifying the fetal heart examination and proving the importance of screening for cardiac abnormalities during obstetric examinations. Prenatal detection rates have increased, and interest in fetal echocardiography is, thus, no longer merely a diagnostic tool; it has gone on to become a tool of the utmost importance in assisting medical and, progressively, interventional treatment of specific anomalies that occur in fetal life. A vast body of literature currently supports the practice of Fetal Cardiology. In addition to diagnosis, anatomical and functional particularities may be identified in utero, with implications on the delivery planning and pre and postnatal management. Prenatal diagnosis has certainly led to increase the number of babies with complex heart diseases in Pediatric Cardiology hospital beds. Prior to this, children with complex heart diseases did not survive the immediate neonatal period and died in neonatal intensive care units without being diagnosed. Nowadays, these children require increasingly careful and specific management involving Pediatric Cardiology and thus modifying the practice of Neonatal Cardiology. Despite the vast literature pertinent to Fetal Cardiology, due to the restricted number of cases, there is a lack of studies with large populations and randomization processes, being the information based on observational studies and description of small samples or cases reports. However, the accumulated knowledge is already enough to develop scientific statements or guidelines. In April 2014, the American Heart Association (AHA) published the first scientific statement for Fetal Cardiology, encompassing all the practical aspects involved in this area, including screening, diagnosis, medical or interventional therapy, counseling, delivery planning, and neonatal treatment. Considering this extremely thorough and highly useful document, we have accepted the challenge of bringing together professionals dedicated to Fetal Cardiology from different regions of Brazil in order to jointly establish guidelines which are adapted to our reality and which also take into consideration knowledge created in Brazil. We believe that the information brought together in this document will be of great use to professionals who face the challenge of dealing with possible abnormalities that affect the fetal heart in their daily practice. (AU)

Fetal ductus arteriosus constriction and closure: analysis of the causes and perinatal outcome related to 45 consecutive cases.

OBJECTIVE: The aim of this study was to analyze the causes and perinatal outcome related to fetal ductus arteriosus constriction or closure at a single center over a 26-year period. METHODS: This was a retrospective analysis of 45 consecutive cases of constriction (n = 41) and closure (n = 4) from 1987 through 2013. Patients were divided into Group A (maternal use of non-steroidal anti-inflammatory drugs (NSAID), n = 29), Group B (idiopathic, n = 8), and Group C (other drugs not previously described, n = 8). RESULTS: The median gestational age at diagnosis was 34 weeks (range, 27-38), mean systolic and diastolic velocity in the ductus arteriosus was 2.01 ± 0.66 m/s and 0.71 ± 0.46 m/s, respectively. Among the 29 cases of NSAIDs, 27.5% (8/29) have taken a single day use and 75% multiple days/doses. Right ventricular dilatation was present in 82.2% of the fetuses, tricuspid insufficiency in 86.6%, and heart failure in 22.2%. Neonatal persistent pulmonary hypertension occurred in 17.7% of the patients. Late follow-up showed all 43 survivors alive and healthy with only two deaths from unrelated causes. CONCLUSIONS: The results of this study indicate that clinically significant ductal constriction may follow maternal exposure to single doses of NSAIDs. Unknown causes or other new substances were also described, such as naphazoline, fluoxetine, isoxsuprine, caffeine and pesticides. Echocardiographic diagnosis of ductal constriction led to an active medical approach that resulted in low morbidity of this group of patients.

Diagnóstico intrauterino de cardiopatia: implicações terapêuticas / Intrauterine diagnosis of heart disease: therapeutic implications

O diagnóstico através da ecocardiografia fetal especializada tem sido cada vez mais detalhado com a melhora dos equipamentos de ultrassom e principalmente com o advento da tecnologia tridimensional. A referência precoce para o cardiologista pediátrico permite que os pais compreendam melhor a cardiopatia em questão. Quando uma cardiopatia congênita fetal é diagnosticada é necessária a coordenação pelo cardiologista fetal do nascimento com o obstetra, neonatologista, intensivista, incluindo serviços de cardiologia especializada como hemodinâmica, ritmologia e cirurgia. Embora seja importante considerar os benefícios potenciais da intervenção cardíaca com cateter balão para casos selecionados, tais como estenose aórtica crítica e atresia pulmonar com septoventricular íntegro, os benefícios em longo prazo e os resultados destes procedimentos são ainda desconhecidos, sendo necessários mais estudos para determinar com mais precisão suas indicações.

Diagnosis by means of specialized fetal echocardiography has become increasingly detailed, not only because of modern ultrasound machines, but also due to the advent of three-dimensional technology. Early referral to a pediatric cardiologist gives parents a better understanding of this disease. When a fetal congenital heart disease is diagnosed,the cardiologist must do the coordination of the birth, with an obstetrician, neonatologist, and intensivist, including specialized cardiology services such as hemodynamics, rhythmology and surgery. Although it is important to consider the potential benefits of fetal cardiac intervention with balloon catheter in selected cases, such as critical aortic stenosis and pulmonary atresia with intact ventricular septum, the long-term benefits and outcomes of these procedures are still unknown, and further studies are needed to determine their indications more precisely.

Pulmonary root translocation in malposition of great arteries repair allows right ventricular outflow tract growth.

OBJECTIVE: Optimal surgical treatment of patients with transposition of the great arteries (TGA), ventricular septal defect (VSD), and pulmonary stenosis (PS) remains a matter of debate. This study evaluated the clinical outcome and right ventricle outflow tract performance in the long-term follow-up of patients subjected to pulmonary root translocation (PRT) as part of their surgical repair. METHODS: From April 1994 to December 2010, we operated on 44 consecutive patients (median age, 11 months). All had malposition of the great arteries as follows: TGA with VSD and PS (n = 33); double-outlet right ventricle with subpulmonary VSD (n = 7); double-outlet right ventricle with atrioventricular septal defect (n = 1); and congenitally corrected TGA with VSD and PS (n = 3). The surgical technique consisted of PRT from the left ventricle to the right ventricle after construction of an intraventricular tunnel that diverted blood flow from the left ventricle to the aorta. RESULTS: The mean follow-up time was 72 ± 52.1 months. There were 3 (6.8%) early deaths and 1 (2.3%) late death. Kaplan-Meier survival was 92.8% and reintervention-free survival was 82.9% at 12 years. Repeat echocardiographic data showed nonlinear growth of the pulmonary root and good performance of the valve at 10 years. Only 4 patients required reinterventions owing to right ventricular outflow tract problems. CONCLUSIONS: PRT is a good surgical alternative for treatment of patients with TGA complexes, VSD, and PS, with acceptable operative risk, high long-term survivals, and few reinterventions. Most patients had adequate pulmonary root growth and performance.

[Fetal heart disease and coping strategies]. / Cardiopatia fetal e estratégias de enfrentamento.

PURPOSE: To evaluate the coping strategies of women facing a diagnosis of fetal heart disease. METHODS: We interviewed 50 women who had received a diagnosis of fetal heart disease. For data collection we used a semi-directed and Coping Strategy Inventory. The interview was conducted, on average, 22 days after the diagnosis. RESULTS: When asked how they felt about the baby, 56.0% reported concern and fragility, while the remaining 44.0% said they were happy and well. The strategies most used by women were problem solving (73.0%), social support (69.1%) and escape/avoidance (62.7%), and the least used strategy was removal (17.3%). It was found that women with partners, as well as those with 1 or 2 children, used more the problem-solving strategy (p<0.05). CONCLUSIONS: The active coping strategies, focused on problem solving and seeking social support, coupled with the responsibility and the need for specific care for the survival and welfare of the baby, brought about a closer relationship with the pregnancy, strengthening the maternal-fetal bond.

Atypical truncus arteriosus operated at 28 years of age: importance of differential diagnosis.

This is the case of 28 year-old adult with suspected congenital heart disease since birth, not treated in childhood at the his family's choice. At 27 years old, he was diagnosed with pulmonary atresia with ventricular septal defect and systemic-pulmonary collaterals, where surgery was contraindicated. A new review in our department showed that it was an atypical form of truncus arteriosus. The fact that a common arterial trunk with left-right shunt was viewed by echocardiography was a crucial fact for the indication of new catheterization, opening the prospect of surgical correction. Currently, the patient is well, with 7 years of postoperative outcome.

Cardiopatia fetal e estratégias de enfrentamento / Fetal heart disease and coping strategies

OBJETIVOS: Avaliar as estratégias de enfrentamento (coping) das gestantes frente ao diagnóstico de cardiopatia fetal. MÉTODOS: Foram entrevistadas 50 gestantes que receberam o diagnóstico de cardiopatia fetal. Para a coleta de dados utilizou-se uma entrevista semidirigida e o Inventário de Estratégia de Coping. A entrevista foi realizada, em média, 22 dias após terem recebido o diagnóstico. RESULTADOS: Ao investigar como se sentiam em relação ao bebê, 56,0 por cento relataram preocupação e fragilidade, enquanto que as demais (44,0 por cento) afirmaram estarem felizes e bem. As estratégias mais utilizadas pelas gestantes foram: resolução de problemas (73,0 por cento), suporte social (69,1 por cento), fuga/esquiva (62,7 por cento), e a estratégia menos utilizada foi a de afastamento (17,3 por cento). Constatou-se que as mulheres com companheiro, utilizaram mais a estratégia de resolução de problemas (p<0,05), assim como as que tinham entre 1 e 2 filhos (p<0,05). CONCLUSÕES: As estratégias de enfrentamento ativas, voltadas para a resolução de problemas e pela busca de suporte social, associadas à responsabilidade e à necessidade de cuidados específicos para a sobrevivência e o bem-estar do bebê, propiciaram uma relação mais próxima com a gestação, fortalecendo o vínculo materno-fetal.

PURPOSE: To evaluate the coping strategies of women facing a diagnosis of fetal heart disease. METHODS: We interviewed 50 women who had received a diagnosis of fetal heart disease. For data collection we used a semi-directed and Coping Strategy Inventory. The interview was conducted, on average, 22 days after the diagnosis. RESULTS: When asked how they felt about the baby, 56.0 percent reported concern and fragility, while the remaining 44.0 percent said they were happy and well. The strategies most used by women were problem solving (73.0 percent), social support (69.1 percent) and escape/avoidance (62.7 percent), and the least used strategy was removal (17.3 percent). It was found that women with partners, as well as those with 1 or 2 children, used more the problem-solving strategy (p<0.05). CONCLUSIONS: The active coping strategies, focused on problem solving and seeking social support, coupled with the responsibility and the need for specific care for the survival and welfare of the baby, brought about a closer relationship with the pregnancy, strengthening the maternal-fetal bond.

[Conjoined twins: prenatal diagnosis, delivery and postnatal outcome]. / Gêmeos unidos: diagnóstico pré-natal, parto e desfecho após o nascimento.

PURPOSE: The aim of this study was to analyze conjoined twins in terms of antenatal, delivery and postnatal aspects. METHODS: A retrospective descriptive analysis of prenatally diagnosed conjoined twins. Prenatal ultrasound and echocardiography, delivery details, postnatal follow-up, surgical separation and post mortem data were reviewed. The twins were classified according to the type of fusion between fetal structures. The following data were analyzed: ultrasound and echocardiographic findings, antenatal lethality and possibility of surgical separation, delivery details and survival rates. RESULTS: Forty cases of conjoined twins were included in the study. There were 72.5% cases of thoracophagus, 12.5% of paraphagus, 7.5% of omphalo-ischiophagus, 5.0% of omphalophagus, and 2.5% of cephalophagus. Judicial termination of pregnancy was requested in 58.8% of the cases. Cesarean section was performed in all cases in which pregnancy was not terminated. The mean gestational age at delivery was 35 weeks; all twins were live births with a mean birth weight of 3,860 g and 88% died postnatally. Ten percent of the live borns were submitted to surgical separation with a 60% survival rate. The total survival rate was 7.5% and postnatal survival was 12%. Antenatal evaluation of lethality and possibility of surgical separation were precise. There were no maternal complications related to delivery. CONCLUSION: Conjoined twins present a dismal prognosis mainly related to the complex cardiac fusion present in the majority of cases with thoracic sharing. At referring centers, prenatal ultrasound and echocardiographic evaluation accurately delineate fetal prognosis and the possibility of postnatal surgical separation.

Truncus arteriosus operado aos 28 anos: importância do diagnóstico diferencial / Atypical truncus arteriosus operated at 28 years of age: importance of differential diagnosis / Truncus arteriosus operado a los 28 años: importancia del diagnóstico diferencial

Descrevemos um caso de adulto de 28 anos com suspeita de cardiopatia congênita desde o nascimento, não tratada na infância por opção da família. Aos 27 anos, foi feito diagnóstico de atresia pulmonar com comunicação interventricular e colaterais sistêmico-pulmonares, sendo contraindicada a cirurgia. Uma nova reavaliação em nosso serviço demonstrou tratar-se de um truncus arteriosus atípico. O fato de um tronco arterial comum com shunt esquerda-direita ter sido visualizado ao ecocardiograma foi um dado crucial para a indicação de novo cateterismo, abrindo perspectiva de correção cirúrgica. No momento, o paciente encontra-se bem, com 7 anos de evolução pós-operatória.

This is the case of 28 year-old adult with suspected congenital heart disease since birth, not treated in childhood at the his family's choice. At 27 years old, he was diagnosed with pulmonary atresia with ventricular septal defect and systemic-pulmonary collaterals, where surgery was contraindicated. A new review in our department showed that it was an atypical form of truncus arteriosus. The fact that a common arterial trunk with left-right shunt was viewed by echocardiography was a crucial fact for the indication of new catheterization, opening the prospect of surgical correction. Currently, the patient is well, with 7 years of postoperative outcome.

Describimos un caso de adulto de 28 años con sospecha de cardiopatía congénita desde el nacimiento, no tratada en la niñez por opción de la familia. A los 27 años, se hizo diagnóstico de atresia pulmonar con comunicación interventricular y colaterales sistémico-pulmonares, y se contraindicó la cirugía. Una nueva reevaluación en nuestro servicio reveló tratarse de un truncus arteriosus atípico. El hecho de un tronco arterial común con shunt izquierdaderecha haber sido visualizado al ecocardiograma fue un dato crucial para la indicación de nuevo cateterismo, abriendo perspectiva de corrección quirúrgica. Al momento, el paciente se encuentra bien, con 7 años de evolución posoperatoria.

Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography.

Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, 22q11.2 deletion is one of the most recognizable chromosomal abnormalities causing CHD. The frequency of this abnormality varies in nonselected populations. This study aimed to investigate the incidence of the 22q11.2 deletion and other chromosomal alterations in a Brazilian sample of fetuses with structural cardiac anomalies detected by fetal echocardiography. In a prospective study, 68 fetuses with a heart defect were evaluated. Prenatal detection of cardiac abnormalities led to identification of aneuploidy or structural chromosomal anomaly in 35.3% of these cases. None of the fetuses with apparently normal karyotypes had a 22q11.2 deletion. The heart defects most frequently associated with chromosomal abnormalities were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), and tetralogy of Fallot. Autosomal trisomies 18 and 21 were the most common chromosomal abnormalities. The study results support the strong association of chromosome alterations and cardiac malformation, especially in AVSD and VSD, for which a chromosome investigation is indicated. In fetuses with an isolated conotruncal cardiopathy, fluorescence in situ hybridization (FISH) to investigate a 22q11.2 deletion is not indicated.