Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.

BACKGROUND: Opitz GBBB syndrome (GBBB) is an X-linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of GBBB in a consanguineous family in which two males siblings were concordant for a total anomalous connection of pulmonary veins and minor facial dysmorphias. METHODS: Targeted exome sequencing analysis of a 380-gene panel associated with cardiovascular disease was performed on the propositus. Interpretative analysis of the exome results was conducted, and 3D models of the protein changes were generated. RESULTS: We identified a NM_000381.4:c.608G>A;p.(Arg203Gln) change in MID1, affecting the conformation of the B-box 2 domain of the protein, with a zinc finger structure and associated protein interactions. This clinical phenotype is consistent with GBBB; however, the type of congenital heart disease observed in this case has not been previously reported. CONCLUSION: A new likely pathogenic variant on MID1 c.608G>A was found to be associated with Opitz GBBB syndrome.

[Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico]. / Prevalencia y espectro de las enfermedades que predisponen a la muerte súbita cardiaca en niños mexicanos: una muestra obtenida del Hospital Infantil de México Federico Gómez.

OBJECTIVE: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner. METHODS: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico. RESULTS: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases. The period prevalence was 9.5/1,000 patients/year. The most common early symptoms were dyspnoea, palpitations, and syncope. A Mendelian inheritance pattern was found in 9 cases. Three patients died of sudden cardiac death during the period of the study. CONCLUSION: Diseases that predispose to sudden cardiac death in children are not very well known by the general medical community. Every child with dyspnoea, palpitations and/or syncope, should be referred for the intensive search of these diseases. A complete cardiological evaluation in all members of the family is indicated.

Maternal Obesity as a Risk Factor for the Development of Total Anomalous Pulmonary Venous Connection in Their Offspring.

The incidence of total anomalous pulmonary venous connection (TAPVC) in the Caucasian population is 2.5/100,000 live births (LB), and the incidence in the Hispanic population is 19.8/100,000 LB. Without knowing the exact etiology for the development of congenital heart disease, our objective was to determine the maternal factors associated with the development of TAPVC. METHODS: 55 mother-child binomials with isolated TAPVC (group I) and 152 healthy mother-child binomials (group II) were included. Both groups had no maternal history of addiction, pre-eclampsia, or type 1, 2 or gestational diabetes mellitus. Complete clinical histories were obtained for the women in both groups and perinatal and birth data were recorded. In addition, genealogies across three generations were constructed to determine affected first- or second-degree relatives with complex congenital heart disease. RESULTS: Among the maternal characteristics analyzed, women in group I had a higher number of pregnancies before gestation of the index case (p = <0.05), and the Body Mass Index (BMI) before pregnancy was higher compared to Group II (p < 0.05), with an adjusted risk of OR = 3.6 (p = 0.011). The family history showed a higher prevalence in the group of patients with TAPVC compared to healthy children (p < 0.05). CONCLUSION: Maternal obesity before pregnancy is a risk factor for the development of CATVP in children in the Mexican population.

[Pulmonary venous flow in children with dilated cardiomyopathy using transthoracic echocardiography]. / Evaluación del flujo de las venas pulmonares con ecocardiografía transtorácica en niños con cardiomiopatía dilatada.

OBJECTIVE: To evaluate the pulmonary venous flow in children with dilated cardiomyopathy and to establish its correlation with mitral Doppler flow and with the functional class. METHODS: It is a descriptive and transversal study in which we evaluated the pulmonary venous flow and its correlation with mitral Doppler flow and the functional class in 14 children with dilated cardiomyopathy. RESULTS: Nine patients were female. The mean age was 5.58 years and the mean follow up was 17 months. The functional class was I in 7 patients, II in 4 and III in 3. When diastolic function was evaluated using mitral Doppler flow it was abnormal in 9 of 14 patients, while the pulmonary venous flow was altered in all 14 patients since S/D ratio was abnormal in all. S wave was reduced in 12 patients; D wave was elevated in 8 patients, A reverse wave was elevated in 4 patients and in 8 the A reverse wave length was higher than mitral A wave length. CONCLUSIONS: Systolic function of the left ventricle is reduced in children with dilated cardiomyopathy. Diastolic function is also frequently abnormal in this group of patients. Pulmonary venous flow identifies better the abnormal diastolic function and correlates better with functional class than mitral Doppler flow.

Prevalencia y espectro de las enfermedades que predisponen a la muerte súbita cardiaca en niños mexicanos: una muestra obtenida del Hospital Infantil de México Federico Gómez / Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico

Resumen Objetivo: Determinar la prevalencia y espectro de las enfermedades que predisponen la muerte súbita cardiaca en niños mexicanos e identificar los principales signos y síntomas tempranos que pueden permitir al personal de salud sospechar acerca de estas enfermedades y referir a los pacientes a un hospital de tercer nivel de manera temprana. Métodos: La incidencia, prevalencia y prevalencia de periodo, así como los primeros síntomas, los datos clínicos y el seguimiento, se describen en todos los niños con enfermedades que predisponen a la muerte súbita cardiaca en el Hospital Infantil de México. Resultados: Cincuenta y nueve pacientes de 8 ± 5 años, 40 con miocardiopatías y 19 con enfermedades arritmogénicas hereditarias. La prevalencia del periodo fue de 9.5/1,000 pacientes/año. Los primeros síntomas más comunes fueron disnea, palpitaciones y síncope. En 9 casos se encontró un patrón de herencia mendeliana. Tres pacientes fallecieron de muerte súbita cardiaca durante el periodo de estudio. Conclusión: Las enfermedades que predisponen a la muerte súbita cardiaca en los niños no son muy conocidas por la comunidad médica y general. Todo niño con disnea, palpitaciones y/o síncope debe referirse para la búsqueda intensiva de estas enfermedades. Una evaluación cardiológica completa en todos los miembros de la familia está indicada.

Abstract Objective: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner. Methods: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico. Results: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases. The period prevalence was 9.5/1,000 patients/year. The most common early symptoms were dyspnoea, palpitations, and syncope. A Mendelian inheritance pattern was found in 9 cases. Three patients died of sudden cardiac death during the period of the study. Conclusion: Diseases that predispose to sudden cardiac death in children are not very well known by the general medical community. Every child with dyspnoea, palpitations and/or syncope, should be referred for the intensive search of these diseases. A complete cardiological evaluation in all members of the family is indicated.

Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez.

Pentalogy of Cantrell is a rare disease. Approximately 185 cases have been reported around the world. The authors performed a retrospective study that reviewed the clinical files and pathological samples of 22 cases of pentalogy of Cantrell treated at the Hospital Infantil de México Federico Gómez. Thirteen patients had ectopia cordis associated with pentalogy of Cantrell (group I), and there were 9 cases without ectopia cordis (group II). In group I, the following types of congenital heart disease were found: single ventricle (4), double-outlet right ventricle (4), ventricular septal defect (3), aortic coarctation (1), and atrial septal defect (1). In group II, the following types of congenital heart disease were found: double-outlet right ventricle (3), double-inlet left ventricle (2), ventricular septal defect (2), tetralogy of Fallot (1), and hypoplastic right ventricle syndrome (1). Nine cases had a ventricular diverticulum (40%). Ten patients (45%) had some other congenital anomaly associated with pentalogy of Cantrell. Thirteen patients underwent surgery (59%), which included cardiac surgery in 10 cases (45%). Sixteen patients died (73%): 11 from group I and 5 from group II (P < .05). Little more than 50 years since it was first described, pentalogy of Cantrell remains a disease with high mortality, especially in patients with associated ectopia cordis.

[Left ventricular function in children after successful repair of aortic coarctation]. / Función ventricular izquierda en niños después de la reparación exitosa de la coartación aórtica.

INTRODUCTION AND OBJECTIVES: Lifetime prognosis following successful repair of aortic coarctation can be affected by a number of late complications. The objective of this study was to assess left ventricular function in these patients and to identify factors that predispose to functional abnormalities. METHODS: The study involved patients who had undergone repair of aortic coarctation and who had a pressure gradient pound 15 mmHg after repair and normal systemic blood pressure. Echocardiographic data collected before repair and the results of the most recent postoperative left ventricular function studies were analyzed. RESULTS: The study involved 40 patients and 31 controls. Their mean age at repair was 6.9 years and the mean follow-up period was 4.25 years. During follow-up, the ejection fraction and the shortening fraction were observed to increase in 82.5% and 67.5% of patients, respectively. The myocardial performance index was abnormal in 47.5% of patients. The highest myocardial performance indices were observed in patients with arterial hypertension at diagnosis, in those who were aged over 4 years when they underwent repair, and in those with the most abnormal left ventricles before repair. CONCLUSIONS: Measurement of the myocardial performance index showed that global left ventricular function was abnormal in 47.5% of patients after successful repair of aortic coarctation despite functional parameters being normal or elevated.

Resultados y complicaciones del cateterismo cardiaco en el recién nacido / Outcomes and complications of cardiac catheterization in neonates

Introducción. Objetivos: determinar el riesgo de complicaciones del cateterismo cardiaco diagnóstico y terapéutico en el período neonatal, y evaluar los resultados obtenidos. Métodos. Se revisaron 95 cateterismos cardiacos consecutivos llevados a cabo en pacientes menores de 28 días que representaron 3.2% de 2 879 cateterismos practicados de 1991 a 2006 en el Hospital Infantil de México Federico Gómez. Resultados. La edad media fue 17.5 ± 0.7 días, peso 2.9 ± 0.98 kg, 59% del género masculino. En 73 (77%) se llevó a cabo un cateterismo terapéutico (Cat-T) y en 22 (23%) un cateterismo diagnóstico (Cat-D). Las técnicas de Cat-T incluyeron: septostomía atrial en 54 pacientes, valvuloplastia aórtica en 8, valvuloplastia pulmonar en 5, angioplastia de coartación aórtica en 3, implantación de marcapasos transvenosos en 2 y férula al conducto arterioso en 1. Se consideraron 24 (25.2%) de complicaciones mayores y 14 (14-7%) menores; en las primeras, las arritmias y las alteraciones vasculares fueron las más comunes; sin embargo, sólo 5 pacientes con complicaciones (5.2%) necesitó de algún procedimiento quirúrgico de urgencia. La muerte atribuible directamente al cateterismo cardiaco ocurrió en 2 casos (2.1%). En los 22 casos de Cat-D la correlación del diagnóstico anatómico con los hallazgos quirúrgicos fue excelente. En los 73 Cat-T, se logró una paliación o corrección satisfactoria en 94.6%. Conclusiones. Estos resultados confirman que el cateterismo cardiaco puede llevarse a cabo en el neonato con buenos resultados, independientemente de la edad y estado crítico; aunque el riesgo de complicaciones es alto, la posibilidad de muerte es baja. En este grupo de pacientes sumamente graves los resultados son alentadores.

Introduction. The aim of this study was to determine the relative risks of diagnostic and interventional catheterization in the neonate and to evaluate outcomes. Methods. A study of 95 consecutive cardiac catheterizations in neonates was undertaken (3.2% of 2 879 paediatric procedures done from 1991 to 2006) at the Hospital Infantil de Mexico Federico Gomez. Results. Mean age was 17.5 ± 0.7 days, mean weight of 2.9 ± 0.98 kg, 59% were males. A therapeutic catheterization (Cat-T) was performed in 73 patients (77%), and a diagnostic procedure (Cat-D) in the remaining 22 (23%). The Cat-T procedures included: atrial septostomy in 54, aortic valvuloplasty in 8, pulmonary valvuloplasty in 5, aortic angioplasty in 3, transvenous pacemaker in 2 and stenting of ductus arteriosus in 1. In the 22 Cat-D procedures, the results correlated well with surgical findings, while a satisfactory palliation or correction was achieved in 94.6% of the 73 Cat-T. One or more complications occurred in 32/73 (40%) Cat-T, and in 6/22 (27.2%) Cat-D procedures. Considering the whole experience, 24 (25.2%) complications were qualified as major and 14 (14-7%) as minor. Of the former, arrhythmias and vascular lesions were the most common; however, only 5 patients (5.2%) required urgent surgical intervention. Death as a result of catheterization occurred in 2 cases (2.1%). An excellent correlation with surgical findings was obtained in the 22 Cat-D cases, whereas a satisfactory palliation was achieved in 69 of 73 Cat-T procedures (94-6%). Conclusions. These results confirm that cardiac catheterization in the neonate can be performed with good results and should not be withheld purely on the basis of age or critical clinical status.

Evaluación del flujo de las venas pulmonares con ecocardiografía transtorácica en niños con cardiomiopatía dilatada / Pulmonary venous flow in children with dilated cardiomyopathy using transthoracic echocardiography

OBJECTIVE: To evaluate the pulmonary venous flow in children with dilated cardiomyopathy and to establish its correlation with mitral Doppler flow and with the functional class. METHODS: It is a descriptive and transversal study in which we evaluated the pulmonary venous flow and its correlation with mitral Doppler flow and the functional class in 14 children with dilated cardiomyopathy. RESULTS: Nine patients were female. The mean age was 5.58 years and the mean follow up was 17 months. The functional class was I in 7 patients, II in 4 and III in 3. When diastolic function was evaluated using mitral Doppler flow it was abnormal in 9 of 14 patients, while the pulmonary venous flow was altered in all 14 patients since S/D ratio was abnormal in all. S wave was reduced in 12 patients; D wave was elevated in 8 patients, A reverse wave was elevated in 4 patients and in 8 the A reverse wave length was higher than mitral A wave length. CONCLUSIONS: Systolic function of the left ventricle is reduced in children with dilated cardiomyopathy. Diastolic function is also frequently abnormal in this group of patients. Pulmonary venous flow identifies better the abnormal diastolic function and correlates better with functional class than mitral Doppler flow.

Comparación de las medidas obtenidas por resonancia magnética con reconstrucción tridimensional y las obtenidas por angiografía digital para el diagnóstico de coartación de aorta / Comparison between the measurements obtained by magnetic resonance and digital angiography in patients with aortic coarctation

Introducción. La angiografía digital (AD) transcateterismo es el estándar de oro en el diagnóstico de la coartación de aorta (CoAo) aunque la resonancia magnética (RM) ha mostrado utilidad en la evaluación del sistema cardiovascular. La medición de los segmentos del arco aórtico facilita la selección de los candidatos para angioplastia transcateterismo evitando una cirugía torácica. No hay reportes de estudios comparativos de las medidas de los diferentes segmentos aórticos, obtenidas por RM y AD. Material y métodos. Se estudiaron 49 pacientes con RM y AD que ingresaron con CoAo entre enero de 2002 y diciembre de 2003. Se determinó el tipo de CoAo. Se midieron los segmentos aórticos por RM y AD y se compararon por medio de correlación lineal (Pearson). En 43 pacientes se realizó angioplastia con globo. Resultados. La variabilidad en la medición de los diferentes segmentos entre ambos métodos fueron: aorta ascendente 1.99-2.10 mm (desviación estándar (DE) 2.7-2.8), arco aórtico 1.79-2 mm (DE 2.55-2.99), istmo 1.53-1.56 mm (DE 2-2.17), aorta descendente 1.75-1.78 mm (DE 2.54-2.55). Las medidas comparadas por correlación lineal muestran r entre 0.80 y 0.999, excepto en arco aórtico por RM que obtuvo r de 0.57. Conclusión. La evaluación con RM de niños con CoAo puede sustituir a la realizada mediante AD ya que una variación de 1.5 a 2.1 mm en las medidas obtenidas por ambos métodos no interfiere con la decisión terapéutica. Sólo debe realizarse la medición del arco aórtico en 2 proyecciones.

Introduction. Quantitative aortic arch analysis may improve the selection of candidates for angioplasty who are most likely to benefit from the procedure. Digital angiography (DA) has traditionally been the definitive preoperative diagnostic procedure for aortic coarctation (AoCo), but magnetic resonance (MR) imaging affords good spatial resolution and excellent contrast between blood vessels and soft tissues and offers great potential for delineating thoracic cardiovascular structures. Material and methods. Forty nine patients with AoCo were examined with MR and DA between June 2002 and December 2003. The site and type of AoCo were determined and the measurements of aortic arch segments were obtained. We realized balloon angioplasty in 43 patients. Results. We compared the measurements using Pearson's linear correlation. The variability of the measurements was: ascending aorta 1.99-2.1 mm (standard deviation [SD] 2.7-2.8), aortic arch 1.79-2 mm (SD 2.55-2.99), aortic isthmus 1.53-1.56 mm (SD 2-2.17), and descending aorta 1.75-1.78 mm (SD 2.54-2.55). The lineal correlation of Pearson for measurements were; r =0.80-0.999 but the aortic arch was r =0.57 by MR. Conclusion. We conclude that quantitative MR measurements of aorta may be used to diagnose of AoCo and avoid using DA. To obtain precise measurements of aortic arch in patients with AoCo, MR should include 2 projections.