Fechamento do Canal Arterial Persistente Tipo Janela Com o Oclusor Septal AMPLATZER® / Percutaneous Closure of Window-Type Patent Ductus Arteriosus With the AMPLATZERTM Septal Occluder

Há vários anos, a oclusão percutânea do canal arterial persistente é uma técnica factível e eficaz na maioria das variantes morfológicas descritas por Krishenko. O tipo B, em janela, caracterizado por ser curto, permanece um desafio, devido ao maior risco de embolizações das próteses e das oclusões incompletas. Descrevemos aqui o uso bem-sucedido de oclusores septais AMPLATZER® em três pacientes com canal arterial em janela, dois casos tratados com dispositivos de 5 mm e um com o de 7 mm. O dispositivo AMPLATZER® desenhado para a oclusão da comunicação interatrial mostrou-se eficaz para o tratamento percutâneo dessa variante morfológica de canal arterial persistente.

For several years the percutaneous closure of patent ductus arteriosus has been a reliable and effective technique for most of the morphologic variants described by Krichenko. Type B, or window-type, patent ductus arteriosus remains a challenge due to the higher risk of device embolizations and incomplete occlusions. We report the successful use of AMPLATZERTM septal occluder in three patients with window-type patent ductus arteriosus, two cases treated with a 5-mm device and one case with a 7-mm device. The AMPLATZERTM device designed for the occlusion of atrial septal defects is effective for the percutaneous treatment of this morphological variant of patent ductus arteriosus.

Análisis de microdeleciones en 22q11 en pacientes colombianos con cardiopatía congénita no sindrómica / Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease

Los defectos cardiacos conforman las malformaciones congénitas más frecuentes, con una incidencia que se ha estimado entre 4 y 12 por 1000 en recién nacidos vivos. Estos tienen una etiología multifactorial en la que convergen la predisposición genética y los factores ambientales. A partir de 1990 se ha relacionado este tipo de patologías con microdelección 22q11. Se determinó la frecuencia de la microdeleción 22q11 en pacientes con cardiopatía congénita no sindrómica. Se analizaron 61 pacientes con cardiopatía congénita, a partir de ADN de sangre periférica y posterior amplificación, mediante PCR multiplex del gen TUPLE1 y del STR D10S2198, visualización electroforesis en geles de agarosa y análisis densitométrico para determinar dosis génica. Se encontraron 3 pacientes con microdeleción 22q11, para una frecuencia de 4,9%. Esta microdeleción se asoció en dos de los casos a Tetralogía de Fallot y en el otro a Defecto Septal Atrial (DSA). En conclusión, la frecuencia de microdeleción 22q11 en la población analizada es de 4,9%. Dentro de los casos de Tetralogía de Fallot, la microdeleción estaba presente en el 7,4% y en los DSA corresponde al 11,1%.

Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.

Association of consanguinity with congenital heart diseases in a teaching hospital in Western Iraq

To study the association of consanguinity as a risk factor for congenital heart diseases [CHDs]. Patients with suggestive signs of CHD admitted to the Al-Ramadi Maternity and Children Hospital, Al-Anbar Governorate, Iraq from January 2009 to January 2010 were subject to diagnostic investigations. Case data includes: name, age, gender, and cause of admission. Parents' data includes: age, residence, degree of consanguinity, and history of family recurrent CHDs. Three controls to one case [3:1] were selected to compare their consanguinity with the CHD cases. Odds ratio was used for the measurement of consanguinity and other variable risks on CHD occurrence. The CHD cases were 86. Selected controls were 258 non-CHD cases. The most recorded subtypes were ventricular septal defect [VSD], atrial septal defect [ASD], and tetralogy of fallot [ToF]. Consanguinity was found in 78% of cases and 43.3% in controls. First cousin consanguinity comprised 66.2% in cases and 35.6% in controls from all their marriages. Consanguinity was found a significant risk factor, more affecting the VSD and ASD than ToF subtypes, while parental age and infant gender were not found as risk factors. Consanguinity proved to be a risk factor for CHD. Further social education of the risks of consanguineous marriages in this tribal population is needed to reduce the prevalence of these morbid and mortal anomalies

Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect.

GATA4 is expressed early in the developing heart where it plays a key role in regulating the expression of genes encoding myocardial contractile proteins. Gene mutations in the human GATA4 have been implicated in various congenital heart defects (CHD), including atrial septal defect (ASD). Although ASD is the third most common CHD in humans, it is generally rare in dogs and cats. There is also no obvious predilection for ASD in dogs and cats, based on sex or breed. However, among dogs, the incidence rate of ASD is relatively high in Samoyeds and Doberman Pinschers, where its inheritance and genetic aetiology are not well understood. In this study, we identified and investigated the genetic aetiology of an ASD affected family in a pure breed dog population. Although the GATA4 gene was screened, we did not find any mutations that would result in the alteration of the coding sequence and hence, the predicted GATA4 structure and function. Although the aetiology of ASD is multifactorial, our findings indicate that GATA4 may not be responsible for the ASD in the dogs used in this study. However, this does not eliminate GATA4 as a candidate for ASD in other dog breeds.

Recorrência de comunicaçäo interatrial em três geraçöes / Recurrence of atrial septal defect in three generations

Beginning with a patient presenting with an atrial septal defect (ASD) of the secundum type, the genealogy was identified in four affected individual who belonged to three successive generations of the same family. The defects were visually confirmed in all individuals and were found to be anatomically similar. No other congenital malformations were present in these individuals. The generology was identified in 1972, when ASD recurred in two generations, and it was concluded that the mechanism of transmission was autossomal recessive. The fifth individual, identified 21 years later, and having an anomaly identical to that of the others, was the child of a couple who had no consaguinity and whose mother was a member of the previously studied genealogy. Considering the abscense of phenotype in the parents and the rarity of the ASD gene in the general population, the ocurrence of the uniparental disomy for this family nucleus, and the same autosomal recessive mechanism of transmission by this affected individual is possible. This study reports the familial occurrence of ASD by genetic mechanisms of transmission, emphasizing the necessity for genetic-clinical studies in members of the familial nucleus in order to detect new carriers, who usually are asymptomatic, thereby allowing for early and adequate treatment of individuals who may be affected.

Comunicación interauricular en adultos: presentación de 189 casos / Atrial septal defect in adults: report of 189 cases

De 16,612 pacientes atendidos en los últimos ocho años en la División de Cardiología del Hospiral de Especialidades del Centro Médico Nacional La Raza, se observaron 189 adultos con comunicación interauricular (1.13 por ciento). La edad varió entre 16 a 60 años, con media de 35 años; 75 por ciento pertenecía la sexo femenino y 25 por ciento al masculino. La mayoría recibió por primera vez atención médica durante la segunda y/o tercera décadas de su vida. Fue sintomático 73.5 por ciento, la disnea fue el síntoma capital y estuvo presente en 52.2 por ciento de los pacientes sintomáticos. En 99.5 por ciento, se auscultó soplo de hiperflujo sanguíneo pulmonar en el área precordial, acompañado por desdoblamiento fijo del segundo ruido pulmonar. En 73.7 por ciento, hublo bloqueos de la rama derecha del haz de His y 79.8 por ciento exhibió signos de cardiomegalia e hiperflujo sanguíneo pulmonar en grado variable. A 140 pacientes se les realizó ecocardiografías modo M, bidimensional y dopler contrastado en color, con vistas subcostales de las cuatro cámaras cardiacas, con las que se logró el diagnóstico preciso de la comunicación interauricular. A todos se les practicó cateterismo cardiaco que mostró hipertensión arterial pulmonar severa en 5 por ciento. La cirugía estuvo contraindicada en 9 por ciento por enfermedad vascular pulmonar. En ausencia de hipertensión arterial pulmonar y arritmias refractarias, la evoluación y pronóstico de los pacientes fueron óptimos sin mortalidad operatoria.

Drenagem venosa anômala pulmonar total em irmäos: relato de caso / Total anomalous pulmonary venous drainage in brothers: a case repot

Em 2 irmäos do sexo masculino, com idades de 4 e 10 meses, a drenagem venosa pulmonar anômala (forma total) fazia-se para a veia cava superior direita, em um deles, e era do tipo misto, no outro (para o seio coronário e cava superior direita)