Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil / Coorte retrospectiva de trissomia do cromossomo 18 (síndrome de Edwards) no sul do Brasil

CONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.

CONTEXTO E OBJETIVO:A trissomia do cromossomo 18 (T18), ou síndrome de Edwards, é uma doença cromossômica caracterizada por um quadro clínico amplo e prognóstico pobre. Nosso objetivo foi descrever os dados clínicos, radiológicos e de sobrevida de uma coorte de pacientes com diagnóstico pré-natal de T18.TIPO DE ESTUDO E LOCAL:Coorte única retrospectiva no Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas (HMIPV).MÉTODOS:Foram considerados todos os pacientes consecutivos com T18 registrados no Serviço de Medicina Fetal do HMIPV entre janeiro de 2005 e setembro de 2013. Foram coletados os seus dados clínicos, radiológicos e de sobrevida. Foi utilizado o teste de Kaplan-Meier para análise de sobrevida.RESULTADOS:10 pacientes foram diagnosticados com T18, 7 (70%) do sexo feminino. A maioria (90%) foi encaminhada devido a malformações detectadas no ultrassom. A média da idade gestacional na primeira avaliação foi de 25,5 semanas. Ao cariótipo, os defeitos foram considerados múltiplos em apenas 4 pacientes (40%). Todos apresentaram trissomia livre do cromossomo 18. A principal anormalidade observada foi a cardiopatia congênita (n = 7). Morte intraútero ocorreu em metade dos pacientes (50%). Todos os pacientes vivos (n = 5) nasceram através de parto cesáreo, apresentando baixo peso e baixos escores de Apgar. A mediana de sobrevida após o nascimento foi de 18 dias.CONCLUSÕES:A T18 associa-se a risco elevado de morte fetal e neonatal. A maioria dos pacientes apresenta malformações identificadas através do ultrassom, como cardiopatias congênitas, que poderiam auxiliar na sua identificação pré-natal.

Prevalence of Congenital Heart Defects Associated with Down Syndrome in Korea

Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea.

Congenital heart disease in children with Down syndrome in Duhok city

To find out the most common types of congenital heart defects among Down syndrome children in Duhok/Kurdistan and the effects of parental consanguinity on the pattern of congenital heart defects. Down syndrome is the most common chromosomal abnormality due to a trisomy of chromosome number 21, commonly associated with congenital heart defects. A study was done in Heevi Pediatric Teaching Hospital and Early Detection Childhood Disability Center in Duhok city, from the period of January 2010 to January 2011. Congenital heart defects were detected in 44/80 [55%] children. Ventricular Septal Defect was the most common 18/44, followed by atrioventricular septal defect 12/44, atrial septal sefect 7/44, Tetralogy of Fallot 4/44, patent ductus arteriosus, hypetrophic obstructive cardiomyopathy 2/44. Consanguinity was found in 22 [27%]of all parents. Slightly higher frequency of congenital heart defects was documented in Down syndrome children from the population of Duhok city with a high consanguineous marriage rate. The frequencies of specific lesions were differing to those reported internationally; ventricular septal defect was the most frequently detected in this study

Prevalence of Birth Defects in Korean Livebirths, 2005-2006

We investigated the livebirths prevalence and occurrence pattern of birth defects in Korea. After the survey on birth defects was done in 2,348 medical institutions around the nation, the birth defect prevalence of livebirths in 2005-2006 was calculated. This study was based on the medical insurance claims database of the National Health Insurance Corporation. The number of livebirths in Korea was 883,184 from 2005-2006, and 25,335 cases of birth defects were notified to our study, equivalent to a prevalence of 286.9 per 10,000 livebirths. Anomalies of the circulatory system were the most common defects, accounting for 43.4% of birth defects with a prevalence of 124.5 per 10,000 livebirths. It was followed by the musculoskeletal system anomalies, the digestive system anomalies, and the urinary system anomalies. The five major birth defects based on the ranking of prevalence were atrial septal defect, ventricular septal defect, hydronephrosis, patent ductus arteriosus, and cleft lip/palate. Birth defects in livebirths were associated with a high proportion of low birthweight, prematurity, multiple births and advanced maternal age. The prevalence of birth defects in Korea is similar to or lower than those reported in developed countries. Our study suggests baseline data to explain the current status of birth defects and to establish a registry system of birth defects in Korea.

Comunicação interventricular pequena: conduta clínica expectante em longo prazo / Comunicación interventricular pequeña: conducta clínica expectante a largo plazo / Small ventricular septal defect: long-term expectant clinical management

FUNDAMENTO: A comunicação interventricular (CIV) pequena apresenta geralmente boa evolução clínica, mesmo em longo prazo. OBJETIVO: Verificar evolução clínica de pacientes com CIV pequena, a fim de determinar continuidade ou não da conduta expectante, em vista do baixo risco operatório, o que ocasiona maior liberalidade da indicação cirúrgica. MÉTODOS: No período de outubro de 1976 a dezembro de 2007, foram examinados 187 casos com CIV pequena (diâmetro menor que 3 mm pelo ecocardiograma) e seguidos 155 deles em longo prazo. Estudaram-se a época de exteriorização do sopro e aspectos evolutivos como fechamento espontâneo do defeito (grupo I) - 64 casos, continuidade do tamanho inicial (grupo II) - 74 casos e diminuição do mesmo (grupo III) -17 casos, além de intercorrências clínicas. RESULTADOS: A exteriorização do sopro ocorreu na maioria no primeiro mês de vida, correspondendo a 48 (75 por cento), 54 (72,9 por cento) e 12 (70,5 por cento) pacientes, nos três grupos respectivos, e acima do primeiro ano em 11 (5,8 por cento) pacientes. Fechamento espontâneo ocorreu no primeiro ano em 48 casos (75 por cento), média de 7,6 m e de 1 a 5,5 anos em 15 pacientes (23,4 por cento), em acompanhamento máximo de 18 anos. Verificou-se continuidade do defeito até 40 anos. A diminuição do defeito ocorreu em média de 15 meses, seguidos até 9 anos. Probabilidade de fechamento da CIV, pela curva actuarial, foi de 34,38 por cento em 1 ano e de 49,89 por cento em 5 anos. Não houve intercorrências clínicas. CONCLUSÃO: Evolução favorável da CIV pequena em longo prazo dispensa intervenção operatória, com preocupação da profilaxia antibiótica rigorosa.

BACKGROUND: The small ventricular septal defect (VSD) usually presents good clinical evolution, even at long-term follow-up. OBJECTIVE: To verify the clinical evolution of patients with small VSD in order to determine the continuation or not of the expectant conduct, considering the low operative risk, which results in a more liberal indication for surgery. METHODS: From October 1976 to December 2007, 187 cases of small VSD (diameter < 3 mm at the echocardiogram) were evaluated and 155 of them were assessed at long-term follow-up. Time of the clinical manifestation of the murmur and evolution aspects such as the spontaneous closure of the defect (group I) - 64 cases, persistence of the initial size (group II - 74 cases and decrease in the size of the defect (group III) - 17 cases, in addition to clinical complications, were studied. RESULTS: The clinical manifestation of the murmur occurred, in the majority of cases, during the first month of life, corresponding to 48 (75 percent), 54 (72.9 percent) and 12 (70.5 percent) patients, in the three groups, respectively and after the first year of life in 11 (5.8 percent) patients. Spontaneous closure occurred in the first year of life in 48 cases (75 percent), mean of 7.6 months and from 1 to 5.5 years in 15 patients (23.4 percent), with a maximum follow-up of 18 years. The persistence of the defect until 40 years of age was observed. The decrease in the size of the defect occurred on a mean of 15 months, followed for up to 9 years. The probability of VSD closure by the actuarial curve was 34.38 percent in 1 year and 49.89 percent in 5 years. There were no clinical complications. CONLCUSION: A favorable evolution of the small VSD at long-term follow-up does not require surgical intervention, with concerns regarding the strict antibiotic prophylaxis.

FUNDAMENTO: La comunicación interventricular (CIV) pequeña presenta generalmente buena evolución clínica, aun a largo plazo. OBJETIVO: Verificar la evolución clínica de pacientes con CIV pequeña, a fin de determinar continuidad o no de la conducta expectante, en vista del bajo riesgo operatorio, resultando una mayor liberalidad de la indicación quirúrgica. MÉTODOS: En el período de octubre de 1976 a diciembre de 2007, se examinaron 187 casos con CIV pequeña (diámetro menor que 3 mm por el ecocardiograma) y se siguieron a 155 de ellos a largo plazo. Se estudiaron la época de exteriorización del soplo y los aspectos evolutivos, como cierre espontáneo del defecto (grupo I): 64 casos; continuidad del tamaño inicial (grupo II): 74 casos; y disminución del mismo (grupo III):17 casos; además de intercurrencias clínicas. RESULTADOS: En la mayoría de los casos, la exteriorización del soplo tuvo lugar en el primer mes de vida, correspondiendo a 48 (75 por ciento), 54 (72,9 por ciento) y 12 (70,5 por ciento) pacientes, en los tres grupos respectivos, y después del primer año en 11 (5,8 por ciento) pacientes. Cierre espontáneo ocurrió en el primer año en 48 casos (75 por ciento), promedio de 7,6 m y de 1 a 5,5 años en 15 pacientes (23,4 por ciento), en seguimiento máximo de 18 años. Se verificó continuidad del defecto hasta 40 años. La disminución del defecto ocurrió en promedio de 15 meses, seguidos hasta 9 años. Probabilidad de cierre de la CIV, por la curva actuarial, fue de un 34,38 por ciento en 1 año y de un 49,89 por ciento en 5 años. No hubo intercurrencias clínicas. CONCLUSIÓN: Evolución favorable de la CIV pequeña a largo plazo dispensa intervención operatoria, con preocupación de la profilaxis antibiótica rigurosa.

Prevalence of congenital heart disease, Kanpur, India.

Our aim was to study the prevalence, age-wise distribution, and clinical spectrum of congenital heart disease (CHD) at a multi-speciality corporate hospital in North India. A retrospective analysis of records of 10,641 patients over a five-and-a-half year period was done. Clinical examination, echocardiography and color doppler were used as diagnostic tools. A prevalence of 26.4 per 1000 patients was observed. VSD (ventricular septal defect) was the commonest lesion (21.3%), followed by ASD (atrial septal defect) in 18.9% and PDA (patent ductus arteriosus) in 14. 6%. Tetralogy of Fallot was the commonest cyanotic heart disease (4.6%). Maximum number of children with heart disease (82.9%) were diagnosed between 0-3 years of age.

Congenital heart disease in Nepalese children.

The present status of congenital heart disease (CHD) from the persepective of the children's health in Nepal is not yeat available. Cross-sectional analysis of all children with heart disease attending Kanti Children Hospital was performed. VSD, ASD, obstructive valvular lesions and cyanotic heart diseases were the most common CHDs. Present data indicate the need for increased levels of cardiac care in children, correctional surgeries, monitoring of the patients and awareness among caregivers of CHD patients.

Congenital heart disease in Saudi Arabia: current epidemiology and future projections

To provide an overview of the epidemiology of congenital heart disease, the results of epidemiological studies done in 4 regions of Saudi Arabia [August 1988-February 2000] and 2604 individuals with congenital heart disease were evaluated. Ventricular septal defect was the commonest lesion [33.9%] followed by atrial septal defect [18.1%]. Overall, sex distribution was similar; for 3 conditions, more males than females were affected. Of 2269 [59%] presenting in the first year of life, 566 [24.9%] had neonatal congenital heart disease. Down syndrome was the commonest cause. Distribution of specific lesions and sex distribution was similar to findings from other parts of the world; however, the overall detection rate at 1 year of age was lower

Pattern of congenital heart disease in Northern Jordan

To study the pattern of congenital heart diseases in Northern Jordan. Design: A prospective study of 170 children with congenital heart disease. Setting: Princess Rahmah Teaching Children Hospital. All cases of congenital heart diseases in Northern Jordan over two years period starting January 1994. Result: A single heart defect was seen in 90% of cases with Ventricular Septal Defect [VSD] being the commonest seen in 44% followed by Atrial Septal Defect [ASD] in 13.5%. Of the 10% with combined or complex heart defects, a combined VSD and ASD were the commonest seen in six paients [35%]. The overall male to female sex ratio are 1.1:1.0. There is identical sex distribution for VSD. Male predominance is seen in pulmonary stenosis, aortic stenosis, atrioventricular canal defects and fallot tetralogy. Female predominance is seen in ASD, Patent Ductus Arteriosus and Transposition of Great Arteries. Half of the patients with congenital heart diseases are diagnosed by three months and three quarter by the age of six months. This is the first study on congenital heart diseases in Northern Jordan that shows a VSD being the commonest, corrobaratim previous reports but have an unexplained higher incidence of ASD

Spontaneous closure of small ventricular septal defect first six months of life.

This study was designed to determine the incidence, types of the defects and the rate of spontaneous closure of the small ventricular septal defect (VSD) in infants who were born at Ramathibodi Hospital during the one year period April 1, 1991 to March 31, 1992. The diagnosis was confirmed by 2D-echocardiogram and Doppler and color flow imaging. RESULT: During the study period, the 15 infants diagnosed with small VSD, an incidence of 1.95 per 1,000 livebirths. The male to female ratio was 9 to 6. There were 11 muscular and 4 membranous VSD. Small VSD had a maximal diameter of 3 mm. of less. Spontaneous closure occurred in 9 to 15 (60%) during 6 months follow-up. The small muscular VSD spontaneously closed in 9 of 11 (82%) patients. CONCLUSION: This data supports the previous studies that the rate of spontaneous closure of small VSD is high and the muscular defect has a higher incidence of spontaneous closure.

Análise dos fatores de risco na correçäo cirúrgica do defeito septal atrioventricular de forma total / Risk factors analysis in the surgical repair of complete atrioventricular septal defect

Pacientes com defeito septal atrioventricular de forma total (DSAVT) frequentemente apresentam insuficiência cardíaca intratável e hipertensäo arterial pulmonar nos primeiros meses de vida, e apenas uma minoria sobrevive sem tratamento cirúrgico precoce. Por essa razäo, indica-se a correçäo definitiva para alterar favoravelmente a história natural da doença. Entretanto, vários fatores säo responsáveis pela alta mortalidade cirúrgica. O presente trabalho estuda a experiência na correçäo cirúrgica do DSAVT com o objetivo de identificar alguns fatores de risco estatisticamente significativos para a ocorrência de morte operatória. Analisaram-se, retrospectivamente, 52 pacientes submetidos, entre janeiro de 1974 e dezembro de 1990, a cirurgia definitiva para correçäo de DSAVT no Royal Brompton and National Heart and Lung Institute, sendo estudadas as seguintes variáveis: idade, peso, sexo, ano de operaçäo, presença de síndrome de Down, grau de regurgitaçäo da valva AV, bandagem prévia do tronco pulmonar, presença de anomalias associadas, pressäo sistólica pulmonar, duplo orifício mitral, classificaçäo do defeito segundo Rastelli, emprego de parada circulatória e técnica de correçäo (1 x 2 retalhos). Todos os fatores foram avaliados isoladamente, mediante a análise univariada. Para determinar quais os fatores que, independentemente da açäo de outros, contribuíram significativamente para maior mortalidade cirúrgica, foi utilizada a análise multivariada com regressäo logística. A análise multivariada demonstrou que o baixo peso na época da operaçäo e a técnica de correçäo com um retalho aumentam significativamente a mortalidade cirúrgica.

Ruptura del septum interventricular postinfarto miocardico / Rupture of interventricular septum post-myocardial infarction

Se informan los resultados de la intervencion quirurgica tardia en doce casos de ruptura postinfarto del septum interventricular. En promedio los pacientes fueron intervenidos despues de doce dias de producida la ruptura. Se presentaron dos muertes: una debida a sindrome de bajo gasto cardiaco y otra secundaria un accidente cerebrovascular ppostoperatorio. El manejo inicial se practico con inotropicos, vasodilatadores, diureticos y balon de contrapulsacion intraaortico. E lprocedimiento quirurgico incluyo parche con suturas reforzadas de teflon,aneurismectomia e injertos aortocoronarios cuando fueron necesarios. Se discute la fisiopatologia de la entidad y los resultados obtenidos con intervencion temprana y tardia.