Congenital Heart Diseases: Genetic Risk Variants and Their Methylation Status.

(1) Background: The interaction between single nucleotide variants (SNVs) associated with congenital heart diseases (CHDs) and their gene methylation status has not been well researched. The aim of the present study was to determine if there is a relationship between the methy lation status (MS) of genes and the allelic variants associated with CHDs. (2) Methods: Seven SNVs of the genes AXIN1, TBX1, TBX20, and MTHFR were selected from the literature. DNA extraction, genotyping, and a methylation analysis were performed on healthy subjects and subjects with CHDs. (3) Results: Twenty-two subjects with CHDs were selected as the case group (15 with ventricular septal defects (VSDs) and 7 with atrial septal defects (ASDs)), and 44 healthy subjects comprised the control group. The MTHFR and AXIN1 genes were hypermethylated in the control group when compared to the case group. When analyzed separately, those with atrial septum defects exhibited greater methylation, except for the gene MTHFR where there were no differences. Only the alternate alleles of MTHFR showed a significantly different methylation status in those without cardiopathy. (4) Conclusions: The MTHFR and AXIN genes were hypermethylated in the control group; however, only the alternate alleles of MTHFR (rs1801133 and rs1801131) showed a significantly different methylation status.

Cor triatriatum dexter y comunicación interauricular tipo seno venoso: Una asociación infrecuente / Cor triatriatum dexter and sinus venosus atrial septal defect: An infrequent association

RESUMEN El cor triatriatum es una malformación congénita poco frecuente, con una prevalecia de un 0,1% entre todas las anomalías congénitas cardíacas, donde el corazón queda dividido en tres atrios o aurículas. En el cor triatriatum dexter la aurícula derecha queda dividida, por una membrana fibromuscular, en dos partes, una proximal y otra distal, que se comunican o no entre sí. En la evolución natural de la enfemedad, los pacientes pueden permanecer asintomáticos hasta su diagnóstico o presentar manifectaciones cardiovasculares secundarias a insuficiencia cardíaca derecha y trastornos del ritmo. En el caso particular de aquellos que se encontraran sintomáticos, el tratamiento de elección sería la corrección quirúrgica del defecto y, en ocasiones, la rotura percutánea de la membrana; mientras que en los que se encuentran asintomáticos, el seguimiento y tratamiento oportuno de sus complicaciones parecería la alternativa más viable.

ABSTRACT Cor triatriatum is a rare congenital condition with a 0.1% prevalence among all cardiac congenital anomalies in which the heart is partitioned into three atria. In cor triatriatum dexter the right atrium is divided by a fibromuscular membrane into two parts, a proximal and a distal one, which may or may not communicate with each other. In the natural course of the condition, patients may remain asymptomatic until diagnosis or present with cardiovascular manifestations secondary to right heart failure and rhythm disorders. In the specific case of symptomatic patients, the treatment of choice would be surgical correction of the anomaly and sometimes percutaneous rupture of the membrane; while in asymptomatic patients, timely follow-up and treatment of their complications would seem to be the best alternatives.

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico.

Atrioventricular septal defects (AVSDs) have been identified as intriguingly infrequent among Hispanics with Down syndrome (DS) born in the United States. The aim of this study was to evaluate the effect of possible maternal risk factors in the presence of congenital heart defects (CHDs) in Mexican infants with DS. A total of 231 live birth infants born with DS during 2009-2018 at the "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara (Guadalajara, Mexico) were ascertained in a case-control study. Patients with DS with any major CHD were included as cases and those without major CHD as controls. Potential risk factors were analyzed using logistic regression. Of eligible infants with DS, 100 (43.3%) had ≥1 major CHDs (cases) and were compared with a control group of 131 infants (56.7%) with DS without CHDs. Prevalent CHDs were ostium secundum atrial septal defects (ASDs) (46.9%), ventricular septal defects (27.3%), and AVSDs (14%). Lack of folic acid supplementation before pregnancy had a significant risk for CHDs in infants with DS (adjusted odds ratio [aORs] = 2.9 (95% confidence interval [95% CI]: 1.0-8.6) and in the analysis by subtype of CHDs, also, for the occurrence of ASDs (aOR = 11.5, 95% CI: 1.4-94.4). Almost half of the infants with DS in our sample had CHDs, being ASD the commonest subtype and AVSD the rarest. Our ethnic background alone or in concomitance with observed nutritional disadvantages seems to contribute differences in CHD subtype rates in our DS patients.

Seis años de experiencia en el cierre percutáneo de defectos del tabique interauricular / Six years of experience in percutaneous closure of interatrial septal defects

Marco de referencia: los defectos del tabique interauricular son anormalidades congénitas del tabique interauricular que comprenden la comunicación interauricular y el foramen oval permeable. Objetivo: analizar y evaluar los resultados del cierre percutáneo con dispositivo percutáneo de pacientes con defectos del tabique interauricular en el Hospital Universitario Santa Fe de Bogotá desde la introducción de esta técnica en 2005 hasta 2011. Materiales y métodos: se realizó un estudio descriptivo ambispectivo. La población estuvo conformada por pacientes adultos, independiente de edad y género, a quienes se les realizó cierre percutáneo de cualquier defecto del septo interauricular desde la introducción de esta técnica en enero 1º. de 2005 hasta junio de 2011 en el servicio de hemodinamia del Hospital Universitario Fundación Santa Fe de Bogotá. Resultados: durante el periodo se hicieron 53 procedimientos de corrección de defecto del tabique interauricular por vía percutánea, en los que se usó dispositivo Amplatzer en 94,3% de los casos. El 75% (27 pacientes) se trataron de manera ambulatoria, dándose de alta luego de cuatro horas de efectuado el procedimiento. El 29,8% fueron hombres y 70,2% mujeres, con edad promedio de 52,2 ± 15,1 años. 57,8% de los pacientes tuvo foramen oval permeable y de éstos 54,5% tenía aneurisma asociado; el porcentaje restante, 42%, fue intervenido por comunicación interauricular. Conclusiones: la experiencia en la Fundación Santa Fe de Bogotá muestra un excelente resultado con muy baja tasa de complicaciones, mejorías clínicas en el seguimiento a largo plazo y gran seguridad, factores que permiten que este procedimiento se lleve a cabo de manera ambulatoria.

Context: atrial septal defects are congenital atrial septal abnormalities that comprise the interatrial communication (IAC) and the patent foramen ovale (PFO). Objective: to analyze and evaluate the results of percutaneous closure with device in patients with interatrial septal defects in the University Hospital Santa Fe de Bogotá since the introduction of this technique in 2005 to 2011. Materials and Methods: descriptive ambispective study. The population consisted of adult patients, regardless of age and gender, who underwent percutaneous closure of any atrial septal defect since the introduction of this technique in January 1st. 2005 to June 2011 in the service of hemodynamics of the University Hospital Fundación Santa Fe de Bogotá. Results: during this period, 53 procedures of percutaneous correction of the atrial septal defect were performed, using the Amplatzer device in 94.3% cases. 75% (27 patients) were treated on an outpatient basis, being discharged four hours after the performance of the procedure. 29.8% were men and 70.2% women with mean age 52.2 ± 15.1 years. 57.8% of patients had patent foramen ovale and of these, 54.5% had associated aneurysm. The remainder 42%, was operated for interatrial communication. Conclusions: the experience in the Fundación Santa Fe de Bogota shows excellent results with a very low complication rate and clinical improvements in the long-term follow-up, factors that allow that this procedure can be performed on an outpatient basis.

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%.

Utilización del "balón con cuchillas" para ampliación de comunicación interauricular restrictiva en lactantes menores de 6 meses: resultados inmediatos y a mediano plazo / Blade Balloon Septostomy to Enlarge a Restrictive Atrial Septal Defect in Infants under 6 Months: Immediate and Medium-Term Outcomes

Los pacientes con cardiopatías congénitas complejas requieren con cierta frecuencia una comunicación interauricular no restrictiva para mantener una saturación de oxígeno arterial y un gasto cardíaco adecuados. En este trabajo se describen seis pacientes menores de 6 meses con cardiopatías congénitas cianóticas graves, en los cuales se realizó dilatación de una comunicación interauricular restrictiva utilizando un balón con cuchillas. Se presentan los resultados inmediatos y a mediano plazo. En todos los pacientes se logró un incremento importante y duradero del tamaño del defecto interauricular y una mejoría clínica sostenida posprocedimiento. Se resalta la utilización de la ecocardiografía intraprocedimiento para guiar y evaluar los resultados. Consideramos que, utilizada con cautela en casos seleccionados, la ampliación de una CIA restrictiva con balón con cuchillas en lactantes menores de 6 meses es una alternativa segura y eficaz, con resultados satisfactorios. La monitorización ecocardiográfica es muy importante para el éxito del procedimiento.

A nonrestrictive atrial septal defect is mandatory in order to maintain adequate arterial oxygen saturation and cardiac output in patients with complex congenital heart defects. We describe six patients under 6 months with severe cyanotic congenital heart defects in whom blade balloon septostomy was performed to enlarge a restrictive atrial septal defect. Immediate and medium-term outcomes are presented. The procedure was successful in all patients, producing a larger and long-lasting atrial septal defect and sustained clinical improvement. The use of intraprocedure echocardiography to guide and evaluate the results is highlighted. We consider that balloon septostomy is a safe and effective option to enlarge a restrictive ASD in carefully selected cases in infants less than 6 months old, with satisfactory outcomes. Echocardiography guidance is very important to warrant success of the procedure.

Uso del "balón con cuchillas" para la ampliación de una comunicación interauricular restrictiva / Blade Balloon Atrial Septostomy to Enlarge a Restrictive Atrial Septal Defect

La presencia de una comunicación interauricular no restrictiva es obligatoria para mantener un gasto cardíaco adecuado o para lograr una mezcla de sangre aceptable en algunos pacientes portadores de cardiopatías congénitas complejas. Describimos un paciente en quien luego de un intento fallido de dilatación estática con balón de una comunicación interauricular restrictiva se utilizó un balón con cuchillas con éxito para su ampliación.

A nonrestrictive atrial septal defect is mandatory in order to maintain an adequate cardiac output or to achieve an acceptable blood mixing in some patients with complex congenital heart defects. We successfully performed a blade balloon septostomy in a patient with a restrictive atrial septal defect who had previously undergone a failed static balloon dilation of the atrial septum.