RESUMO
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.
Assuntos
Doenças Genéticas Ligadas ao Cromossomo X , Hipertelorismo , Hipospadia , Humanos , Masculino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hipertelorismo/genética , Hipospadia/genéticaRESUMO
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.
Assuntos
Valva Mitral/anormalidades , Valva Mitral/cirurgia , Adolescente , Procedimentos Cirúrgicos Cardíacos/métodos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos RetrospectivosRESUMO
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.
Assuntos
Bioprótese , Implante de Prótese Vascular/instrumentação , Prótese Vascular , Procedimentos Cirúrgicos Cardíacos/instrumentação , Cardiopatias Congênitas/cirurgia , Pericárdio/transplante , Tronco Arterial/cirurgia , Angioplastia com Balão/instrumentação , Animais , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/mortalidade , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/mortalidade , Bovinos , Criança , Pré-Escolar , Cardiopatias Congênitas/mortalidade , Humanos , Estimativa de Kaplan-Meier , México , Polietilenotereftalatos , Desenho de Prótese , Reoperação , Estudos Retrospectivos , Stents , Fatores de Tempo , Resultado do Tratamento , Tronco Arterial/anormalidadesRESUMO
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.
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Valva Mitral/anormalidades , Valva Mitral/cirurgia , Procedimentos Cirúrgicos Cardíacos/métodos , Estudos RetrospectivosRESUMO
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.
Assuntos
Artéria Pulmonar/anormalidades , Veias Pulmonares , Doenças Vasculares/complicações , Constrição Patológica , Feminino , Humanos , Lactente , Artéria Pulmonar/cirurgia , Doenças Vasculares/diagnóstico , Doenças Vasculares/cirurgiaRESUMO
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.
Assuntos
Feminino , Humanos , Lactente , Veias Pulmonares , Artéria Pulmonar/anormalidades , Doenças Vasculares , Constrição Patológica , Artéria Pulmonar , Doenças Vasculares , Doenças VascularesRESUMO
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.
Assuntos
Humanos , Lactente , Masculino , Anormalidades Múltiplas , Valva Aórtica/anormalidades , Valva Aórtica , Transposição dos Grandes VasosRESUMO
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.