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.

International telemedicine in pediatric cardiac critical care: a multicenter experience.

OBJECTIVE: To describe our multicenter experience in telemedicine-assisted pediatric cardiac critical care (PCCC) with four hospitals in Latin America from July 2011 to June 2013. MATERIALS AND METHODS: This was a descriptive study based on telemedicine encounters related to quality of communication, assessed information, activities, and recommendations. Comparison among centers was performed. A postimplementation survey was conducted through a 5-point Likert scale questionnaire investigating acceptance among professionals involved with the telemedicine service through the assessment of general satisfaction, perception about the work system, usefulness, and impact on medical practice. RESULTS: One thousand forty consultations were conducted for 476 patients. Postoperatively, patients were distributed into Risk Adjustment Classification for Congenital Heart Surgery (RACHS-1) categories as follows: 2%, 26%, 36%, 26%, and 10% in categories 1, 2, 3, 4, and 6, respectively. A real-time intervention took place in 23% of encounters. Of the 2,173 recommendations given, 70 were related to extracorporeal membrane oxygenation management. There was a different RACHS-1 distribution and encounter characteristics among centers. From a total of 51 surveys sent, 27 responses were received, and among responders, overall satisfaction was very high (4.27 ± 0.18), as well as work system quality (4.4 ± 0.37). Telemedicine was considered useful in the cardiac intensive care unit (3.86 ± 0.60), for patient outcomes (3.8 ± 0.51), and for education (3.7 ± 0.71). There was a difference in overall satisfaction, perception about telemedicine usefulness in education, and impact on medical practice among centers. CONCLUSIONS: An international, multicenter telemedicine program in PCCC is technologically and logistically feasible. Prospective interventions in our international multicenter telemedicine program should consider differences in staff composition, perception of needs, and patient population among centers.

Resultados del reimplante coronario para la corrección del origen anómalo de la coronaria izquierda a partir de la arteria pulmonar / Outcomes of coronary reimplantation for correction of anomalous origin of left coronary artery from pulmonary artery

Introducción y objetivos. Describir nuestra experiencia en la corrección quirúrgica del origen anómalo de la arteria coronaria izquierda del tronco de la arteria pulmonar (ALCAPA), con énfasis en la técnica del reimplante coronario y sus resultados. Métodos. Se realizó un estudio descriptivo, longitudinal y retrospectivo de los pacientes con ALCAPA operados con técnica de reimplante coronario en un periodo de 19 años. Se exponen tres técnicas del reimplante coronario, dependiendo de la situación de la coronaria izquierda anómala, y la evolución postoperatoria en términos de morbimortalidad. Resultados. Se analizó a 15 pacientes (el 86% mujeres) con una media de edad de 6,2 años (2 meses-24 años). El 80% se hospitalizó por insuficiencia cardiaca. El 67% tenía disfunción ventricular izquierda y el 27%, insuficiencia mitral importante o grave. Se practicó cirugía valvular mitral concomitante en 4 pacientes. Las principales complicaciones postoperatorias inmediatas fueron bajo gasto cardiaco (38%), derrame pleural (17%) e isquemia transitoria (13%). No hubo mortalidad operatoria ni a medio plazo. Conclusiones. El reimplante coronario es la opción quirúrgica de elección para el manejo de los pacientes con ALCAPA por su excelente supervivencia posquirúrgica y su baja morbilidad operatoria (AU)

Introduction and objectives. We report our experience in the surgical correction of anomalous origin of left coronary artery from pulmonary artery (ALCAPA), with an emphasis on the coronary reimplantation technique and its outcome. Methods. We designed a retrospective, longitudinal, descriptive study that included patients with ALCAPA who underwent surgery involving coronary reimplantation over a 19-year period. We describe perioperative details such as variations in the surgical technique and the postoperative outcome in terms of morbidity and mortality. Results. We studied 15 patients (86% females) with a mean age of 6.2 years (range, 2 months to 24 years). Heart failure was the principal cause for hospitalization in 80% of our patients. Left ventricular dysfunction was present in 67%, and 27% had significant or severe mitral valve regurgitation. We describe 3 surgical techniques for coronary reimplantation, the choice of which depends on the site of origin of the anomalous left coronary artery. Four patients underwent an additional mitral valve procedure. The most common immediate postoperative complications were low cardiac output (38%), pleural effusion (17%), and transient ischemia (13%). There was no operative or medium-term mortality. Conclusions. Coronary reimplantation is the technique of choice for surgical correction of ALCAPA due to the excellent postoperative survival and low operative morbidity (AU)

Outcomes of coronary reimplantation for correction of anomalous origin of left coronary artery from pulmonary artery.

INTRODUCTION AND OBJECTIVES: We report our experience in the surgical correction of anomalous origin of left coronary artery from pulmonary artery (ALCAPA), with an emphasis on the coronary reimplantation technique and its outcome. METHODS: We designed a retrospective, longitudinal, descriptive study that included patients with ALCAPA who underwent surgery involving coronary reimplantation over a 19-year period. We describe perioperative details such as variations in the surgical technique and the postoperative outcome in terms of morbidity and mortality. RESULTS: We studied 15 patients (86% females) with a mean age of 6.2 years (range, 2 months to 24 years). Heart failure was the principal cause for hospitalization in 80% of our patients. Left ventricular dysfunction was present in 67%, and 27% had significant or severe mitral valve regurgitation. We describe 3 surgical techniques for coronary reimplantation, the choice of which depends on the site of origin of the anomalous left coronary artery. Four patients underwent an additional mitral valve procedure. The most common immediate postoperative complications were low cardiac output (38%), pleural effusion (17%), and transient ischemia (13%). There was no operative or medium-term mortality. CONCLUSIONS: Coronary reimplantation is the technique of choice for surgical correction of ALCAPA due to the excellent postoperative survival and low operative morbidity.

Surgical repair of congenital mitral valve malformations.

Surgical development of mitral valve repair techniques in pediatric patients has been slow because of the great variety in the presentation of congenital mitral valve malformations and the still unknown growing effect over the complex mitral valve apparatus. The aim of this study is to review our early an mid-term institutional outcomes in surgical repair of congenital mitral valve malformations. We studied retrospectively 14 patients with surgical repair of congenital mitral valve malformations in a 5 year period. Clinical and echocardiographic follow-up at a mean of 25 months was performed in all cases. Operative morbidity was 77% and operative mortality 7%. There were no late deaths. Clinical functional class stratification at the mid-term improved in 73% of survivors and did not change in the remaining 27%. Freedom from reoperation for mitral valve prosthetic replacement due to mitral valve repair failure was 84% at 30 days and 77% at 3.5 years. Surgical repair is probably the best technique option in the treatment of congenital malformations of the mitral valve, and transesophageal intraoperatory echocardiography must be highly recommended for evaluation of results.

Early and midterm results of an alternative procedure to homografts in primary repair of truncus arteriosus communis.

BACKGROUND: Repair of truncus arteriosus communis (TAC) in the neonatal and early infant period has become a standard practice. We report our experience on primary repair of TAC with a bovine pericardial-valved woven Dacron conduit as an alternative procedure to homografts, with a focus on early and midterm results. METHODS: From January 2001 to December 2007, 15 patients with mean age 1.5 years (range 3 months to 8 years), underwent primary repair of simple TAC. Cases with cardiogenic shock, complex-associated cardiac lesions, or adverse anatomy of the truncal valve were excluded. The Collett and Edwards anatomical type classification of TAC was as follows: type I, 13 (87%); and type II, 2 (13%). Right ventricular outflow tract was reconstructed in all the cases with a bovine pericardial-valved woven Dacron conduit. RESULTS: Overall mortality was 6.6% (1 death due to severe pulmonary hypertension). At a mean follow-up of 31 months (range 6-51), there were no deaths (5-year actuarial survival 93.4%). Out of the 14 midterm survivors, three developed stenosis of the pericardial-valved woven Dacron conduit, but only one underwent interventional procedure including percutaneous balloon dilation with stenting for associated left pulmonary artery hypoplasia. The rate of patients with no surgical or percutaneous reinterventions performed because of obstruction of the right ventricular outflow tract reconstruction in the midterm (5 years) was 86%. CONCLUSIONS: Truncus arteriosus communis repair with a bovine pericardial-valved woven Dacron conduit can be performed with a very low perioperative mortality and satisfactory midterm morbidity, favorably compared with that reported for the use of homografts. Interventional cardiac catheterization may delay the time of reoperation for inevitable conduit replacement due to stenosis.

Surgical repair of congenital mitral valve malformations / Reparación quirúrgica de las malformaciones congénitas de la válvula mitral

Surgical development of mitral valve repair techniques in pediatric patients has been slow because of the great variety in the presentation of congenital mitral valve malformations and the still unknown growing effect over the complex mitral valve apparatus. The aim of this study is to review our early an mid-term institutional outcomes in surgical repair of congenital mitral valve malformations. We studied retrospectively 14 patients with surgical repair of congenital mitral valve malformations in a 5 year period. Clinical and echocardiographic follow-up at a mean of 25 months was performed in all cases. Operative morbidity was 77% and operative mortality 7%. There were no late deaths. Clinical functional class stratification at the mid-term improved in 73% of survivors and did not change in the remaining 27%. Freedom from reoperation for mitral valve prosthetic replacement due to mitral valve repair failure was 84% at 30 days and 77% at 3.5 years. Surgical repair is probably the best technique option in the treatment of congenital malformations of the mitral valve, and transesophageal intraoperatory echocardiography must be highly recommended for evaluation of results.

El desarrollo de las técnicas de plastía mitral en el paciente pediátrico ha sido lento debido a la gran variabilidad de presentación de las lesiones mitrales congénitas, y al poco conocido efecto del crecimiento sobre el complejo aparato valvular mitral. El objetivo de este estudio fue revisar nuestra experiencia institucional en el corto y mediano plazo en la reparación quirúrgica de las valvulopatías mitrales congénitas. En forma retrospectiva se estudió una serie de 14 pacientes operados de reparación quirúrgica por valvulopatía mitral congénita en un lapso de cinco años. Se realizó seguimiento clínico y ecográfico en todos los casos a los 25 meses en promedio. La morbilidad operatoria de la serie fue de 77% y la mortalidad operatoria de 7%. No hubo mortalidad tardía. En el mediano plazo, la capacidad funcional mejoró en 73% de los sobrevivientes y se mantuvo en 27%. El índice de sobrevida libre de re-operación para cambio valvular por falla de la plastía mitral fue de 84% a los 30 días y de 77% a los 3.5 años. La reparación valvular mitral en el paciente pediátrico es probablemente la técnica de elección en el tratamiento quirúrgico de la patología valvular mitral congénita, y la ecocardiografía transesofágica intraoperatoria debe ser considerada como una herramienta altamente recomendable para evaluar los resultados.

[Anomalous origin of the right pulmonary artery and left pulmonary vein stenosis]. / Origen anómalo de la arteria pulmonar derecha y estenosis de vena pulmonar superior izquierda.

We present a case of a 9 month old female with a history of cyanosis. The cardiovascular evaluation included angiocardiogram and magnetic resonance. The diagnosis was: origin of the right pulmonary artery from the ascending aorta, stenosis of the left superior pulmonary vein, patent ductus arteriosus and severe pulmonary hypertension. Surgical treatment consisted in correcting all congenital heart defects. The patient is doing well at home.

Origen anómalo de la arteria pulmonar derecha y estenosis de vena pulmonar superior izquierda / Anomalous origin of the right pulmonary artery and left pulmonary vein stenosis

We present a case of a 9 month old female with a history of cyanosis. The cardiovascular evaluation included angiocardiogram and magnetic resonance. The diagnosis was: origin of the right pulmonary artery from the ascending aorta, stenosis of the left superior pulmonary vein, patent ductus arteriosus and severe pulmonary hypertension. Surgical treatment consisted in correcting all congenital heart defects. The patient is doing well at home.

Válvula aórtica cuadricúspide (VAC) en transposición de grandes arterias: Reporte de un caso diagnosticado por ecocardiografia bidimensional / Quadricuspid aortic valve in a patient with D- transposition of the great arteries

En este reporte presentamos el caso de un paciente con discordancia ventrículo arterial (d-TGA) en quien se diagnosticó por ecocardiografia bidimensional la presencia de válvula aórtica cuadricúspide, con el propósito de ampliar las lesiones asociadas a d-TGA y manifestar la preocupación de la repercusión clínica de anomalías en el número de velos valvulares en la evolución de este tipo de pacientes.

In this report we present the case of a patient with ventricular-arterial discordance in which a QAV was diagnosed by bidimensional echocardiogram with the purpose of expanding the anatomical spectrum of the anomalies associated with d-TGA and to manifest the clinical awareness of the consequence that the QAV has on the evolution of the patients that undergo to anatomic correction.

[Quadricuspid aortic valve in a patient with d-transposition of the great arteries]. / Válvula aórtica cuadricúspide (VAC) en transposición de grandes arterias. Reporte de un caso diagnosticado por ecocardiografía bidimensional.

In this report we present the case of a patient with ventricular-arterial discordance in which a QAV was diagnosed by bidimensional echocardiogram with the purpose of expanding the anatomical spectrum of the anomalies associated with d-TGA and to manifest the clinical awareness of the consequence that the QAV has on the evolution of the patients that undergo to anatomic correction.