Ethnical variations in the incidence of congenital heart defects in Gorgan, northern Iran: a single-center study

Congenital heart disease [CHD] is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran. In this longitudinal, hospital-based study, 18162 live births in Dezyani Hospital in Gorgan, North of Iran, were screened for CHD, from 2007 through 2009. Clinical examination, echocardiography, color Doppler, and cardio catheterization were used as diagnostic tools. Sex, ethnicity, and type of CHD for each case were recorded in a pre-designed questionnaire. The incidence rates of CHD in the native Fars, Sistani, and Turkmen subjects were 5.73 [95%CI: 4.53-7.15], 12.27 [95%CI: 8.74-16.73], and 15.93 [95%CI: 10.00-24.02] per 1000 live births, respectively. The Turkmen to native Fars and Sistani to native Fars relative risk for congenital CHD malformations was 2.77 [95%CI: 1.73-4.44; p value < 0.001] and 1.29 [95%CI: 0.77-2.18; p value < 0.323], respectively. While atrial septal defect was the most common lesion in the native Fars subjects [2.14 per 1000 [95%CI: 1.42-3.06]] and in the Sistani subjects [2.84 per 1000 [95%CI: 1.29-5.36]], in the Turkmen subjects, ventricular septal defect [4.36 per 1000 [95%CI: 1.59-9.43]], followed by atrial septal defect, was the most frequent lesion. This study showed that the incidence and pattern of CHD among live births in Gorgan, North of Iran, varied according to ethnicity. The risk of CHD was higher in the Turkmen and Sistani groups than in the Fars population

Variations in the anatomy of the coronary arteries

Even though anatomic variations in the cardiac circulation are quite common, there is littleinformation concerning the Brazilian population. This study intends to describe the most common variationsfound during the autopsies for the AMA Study. Material and methods: fifty human cadavers had theirhearts were dissected and analyzed. Results: variations occurred in 64% of all cases and were more commonin the posterior circulation (40.6%); arterial hypoplasia was present in 14% of the circumflex arteries, 12% ofthe marginal arteries; duplication of the posterior interventricular artery occurred in 2%; muscular bridgesoccurred in 4%; anomalous origin of arteries occurred in 14% in total; right dominant pattern was presentin 88%, left dominant in 8%, and undetermined in 4%. Conclusion: Brazilian population variations are inaccordance with the literature; anatomic variations of the heart arteries are common; and there seems to be nodifference among different populations.

Mortalidad y enfermedades asociadas al síndrome de Down en el primer año de vida: Experiencia de la Policlínica Interdisciplinaria de Atención al niño con síndrome de Down del Servicio de Recién Nacidos del Centro Hospitalario Pereira Rossell / Mortality and disease associated with Down syndrome in the first year of life

Introducción: la Policlínica Interdisciplinaria de Atención al Niño con síndrome de Down brinda asistencia desdeel nacimiento hasta el segundo año de vida.Objetivo: describir la mortalidad observada y las enfermedades asociadas diagnosticadas en el primer año devida en los niños con síndrome de Down atendidos en la policlínica.Material y métodos: niños con síndrome de Down nacidos o derivados al Servicio de Recién Nacidos del CentroHospitalario Pereira Rossell desde el 7 de enero de 2003 al 30 de abril del 2005.Resultados: se asistieron 45 niños. 22 madres eran mayores de 35 años (48,9%). En un caso se realizódiagnóstico prenatal (2,2%). Fallecieron ocho niños (17,8%). En 36 niños se observaron malformaciones asociadas (80,0%). Presentaron cardiopatía congénita 32 niños (71,1%), de los cuales requirieron tratamientoquirúrgico 11 (34,4%). Se diagnosticó hipotiroidismo congénito en un niño (2,2%). De los 37 niños quesobrevivieron al año se detectó hipotiroidismo entre los 6 meses y el año en 8 (21,6%).Conclusiones: la atención por un grupo interdisciplinario permite responder a los múltiples problemas queenfrentan estos niños y sus familias. Permitió un diagnóstico temprano de las enfermedades presentes en estospacientes. Se destaca la alta mortalidad, la alta incidencia de cardiopatía congénita e hipotiroidismo observado.

Introduction: an Interdisciplinary Center for the Attention of Children with Down syndrome provides services forchildren until the age of 2.Objective: describe the mortality incidence and the associated diseases during the first year of life in children withDown syndrome.Material and methods: children with Down syndrome born or derived to the Pereira Rossell Neonatology Servicefrom January 7, 2003 until April 30, 2005.Results: 45 children were assisted. 22 mothers (48,9%) were over 35 years old. Only in one case (2,2%) aprenatal diagnosis was done. 8 children died (17,8%). Associated malformations were observed in 36 children(80%). 32 children (71,1%) had congenital heart disease and 11 (34,4%) required surgery. One children (2,2%)had congenital hypothyroidism. From the 37 children alive after one year, eight had hypothyroidism.Conclusions: these children and families multiple problems are confronted in a better way by an interdisciplinarygroup. This allowed an earlier diagnosis of the different problems. There is a high mortality and a high incidence ofcardiac and thyroid problems.

Total anomalous pulmonary venous connection: surgical experience in Indians.

BACKGROUND: We report a retrospective analysis of the demographic. morphological and clinical profiles of patients along with results of operative repair for total anomalous pulmonary venous connection. METHODS AND RESULTS: In the last 15 years, 248 patients (168 boys, 80 girls) underwent repair for total anomalous pulmonary venous connection. Their ages ranged from I day to 24 years (median 8 months) and 145 of them were < or = 1 year of age. The patients' weight ranged from 2 to 52 kg (median 5 kg). About 70% of patients (n = 174) were less than the 50th percentile of predicted weight for age and sex. The anomalous connection was supracardiac in 134 (54%), cardiac in 80 (32.2%), infracardiac in 9 (3.6%) and mixed in 25 (10.1%) patients. Fifty (20.2%) patients had obstructed drainage and 76 patients (30.2%) had moderate or severe pulmonary arterial hypertension. Forty-five patients (18.1%) had to be operated upon on an emergency basis. All the patients were operated upon using moderately hypothermic cardiopulmonary bypass. In 114 patients, circulatory arrest was used. There were 45 (19.1%) in-hospital deaths. The major causes of early death were pulmonary arterial hypertensive crisis in 19 (7.7%) and low cardiac output syndrome in 17 (6.9%) patients. Age < or = 1 year (odds ratio 2.16; 95% confidence interval: 1.22-3.82, p=0.008), severe pulmonary arterial hypertension (odds ratio 5.86; 95% confidence interval: 2-17, p=0.001), and need for emergency surgery (odds ratio 3.65; 95% confidence interval: 1.59-8.38, p=0.002) were independent risk factors for early death. Follow-up ranged from 1 to 180 months (median 48 months). There were 4 lake deaths. Actuarial survival at 12 years was 92.6% +/- 2.8%. CONCLUSIONS: In Indian circumstances, mortality continues to be high in infants with total anomalous pulmonary venous connection. Severe pulmonary arterial hypertension appears to be the most important predictor of operative mortality. Severe malnutrition, delayed diagnosis and late referrals possibly contribute to the high mortality.

Síndrome de HOLT-ORAM

Estudio a lactante menor de 5 meses, de sexo femenino, que ingresa con dificultad respiratoria, rechazo alimentario, fiebre de 24 horas de evolución, con miembros superiores deformes, hiperfonético en área pulmonar, soplo sistólico regurgitativo