RESUMO
Tricuspid atresia is a congenital malformation of the tricuspid valve resulting in a lack of blood flow between the right atrium and the right ventricle. Management generally involves staged surgical intervention enabling affected individuals to survive into adulthood. Although surgical intervention greatly improves morbidity and mortality in this patient population, there are many long-term complications associated with the creation of a surgical shunt. We report a case of a 33-year-old male with tricuspid atresia who underwent Fontan surgery as a child and presented to our hospital with acute liver failure.
Assuntos
Técnica de Fontan , Falência Hepática Aguda , Atresia Tricúspide , Adulto , Técnica de Fontan/efeitos adversos , Ventrículos do Coração , Humanos , Falência Hepática Aguda/etiologia , Falência Hepática Aguda/cirurgia , Masculino , Atresia Tricúspide/complicações , Atresia Tricúspide/cirurgia , Valva Tricúspide/anormalidades , Valva Tricúspide/cirurgiaRESUMO
Acute obstruction of superior vena cava anastomosis right after the Glenn procedure may lead to tragic consequences. We describe the case of a one-year-old child with tricuspid atresia and a previous Blalock-Taussig shunt procedure, who presented severe low cardiac output syndrome right after the Glenn procedure and died forty-four hours after the procedure. The autopsy showed obstruction of the superior vena cava anastomosis. Patients that present superior vena cava syndrome and low cardiac output right after the Glenn procedure should have the surgical anastomosis revised immediately.
Assuntos
Humanos , Feminino , Recém-Nascido , Derivação Cardíaca Direita , Técnica de Fontan/efeitos adversos , Cardiopatias Congênitas/patologia , Autopsia , Evolução Fatal , Atresia Tricúspide/complicações , Procedimento de Blalock-Taussig/efeitos adversosRESUMO
La atresia tricuspidea es una cardiopatía rara caracterizada por oclusión de la válvula tricúspide y asociada a hipoplasia de ventrículo derecho y estenosis pulmonar. Clásicamente se presenta con un defecto en septun ventricular. El diagnóstico puede establecerse con ecocardiografía fetal y usualmente se sospecha ante una imagen de cuatro cámaras anormal.
Assuntos
Recém-Nascido , Atresia Tricúspide/complicações , Atresia Tricúspide/diagnóstico , Cardiopatias Congênitas/diagnóstico , Diagnóstico Pré-NatalRESUMO
Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.
Assuntos
Anormalidades Múltiplas , Síndrome de Ellis-Van Creveld/complicações , Comunicação Atrioventricular/complicações , Átrios do Coração/anormalidades , Atresia Tricúspide/complicações , Defeitos dos Septos Cardíacos , Humanos , Lactente , MasculinoRESUMO
El síndrome de Ellis-Van Creveld (SEVC) o displasia condroectodérmica se debe a una mutación de transmisión autosómica recesiva en el brazo corto del cromosoma 4 y afecta múltiples órganos. Descrito como una tétrada clásica de condrodisplasia, displasia ectodérmica, polidactilia y defectos cardíacos congénitos, sólo se conoce a partir de informes y series de casos. Se describe el caso de un varón de 3 meses, sin antecedentes familiares de importancia, que presentó un cuadro de condrodisplasia, labio superior fusionado al paladar, simpolidactilia posaxial bilateral en las manos, displasia del desarrollo de las caderas, tórax estrecho con costillas cortas y compromiso cardíaco. El presente caso sería la primera comunicación del SEVC en el Perú.
Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.
Assuntos
Humanos , Lactente , Masculino , Anormalidades Múltiplas , Síndrome de Ellis-Van Creveld/complicações , Comunicação Atrioventricular/complicações , Átrios do Coração/anormalidades , Atresia Tricúspide/complicaçõesRESUMO
El síndrome de Ellis-Van Creveld (SEVC) o displasia condroectodérmica se debe a una mutación de transmisión autosómica recesiva en el brazo corto del cromosoma 4 y afecta múltiples órganos. Descrito como una tétrada clásica de condrodisplasia, displasia ectodérmica, polidactilia y defectos cardíacos congénitos, sólo se conoce a partir de informes y series de casos. Se describe el caso de un varón de 3 meses, sin antecedentes familiares de importancia, que presentó un cuadro de condrodisplasia, labio superior fusionado al paladar, simpolidactilia posaxial bilateral en las manos, displasia del desarrollo de las caderas, tórax estrecho con costillas cortas y compromiso cardíaco. El presente caso sería la primera comunicación del SEVC en el Perú.(AU)
Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.(AU)
Assuntos
Humanos , Lactente , Masculino , Anormalidades Múltiplas , Síndrome de Ellis-Van Creveld/complicações , Comunicação Atrioventricular/complicações , Átrios do Coração/anormalidades , Atresia Tricúspide/complicaçõesRESUMO
Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.
Assuntos
Anormalidades Múltiplas , Síndrome de Ellis-Van Creveld/complicações , Comunicação Atrioventricular/complicações , Átrios do Coração/anormalidades , Atresia Tricúspide/complicações , Humanos , Lactente , MasculinoRESUMO
We describe two infants having an atrioventricular septal defect in the setting of a double inlet atrioventricular connection, but with patency of the left-sided valvar orifice and an imperforate right-sided valvar component, and a further case with atrioventricular septal defect and an imperforate Ebstein's malformation, all producing the haemodynamic effect of tricuspid atresia. We make comparisons with the arrangement in trisomy 16 mice, in whom deficient atrioventricular septation is seen at times with the common atrioventricular junction exclusively connected to the left ventricle, a situation similar to that seen in two of our infants. We also review previous reports emphasising the important theoretical implication of the findings despite their rarity.
Assuntos
Comunicação Interatrial/diagnóstico , Comunicação Interventricular/patologia , Animais , Autopsia , Procedimento de Blalock-Taussig , Pré-Escolar , Anomalia de Ebstein/diagnóstico , Evolução Fatal , Feminino , Comunicação Interatrial/complicações , Comunicação Interventricular/complicações , Comunicação Interventricular/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Camundongos , Diagnóstico Pré-Natal , Resultado do Tratamento , Atresia Tricúspide/complicações , Atresia Tricúspide/diagnósticoRESUMO
The occurrence of a restriction of the bulbo-ventricular foramen (BVF) in older patient with double inlet left ventricle (DILV) or tricuspid atresia (TA) with ventriculo-arterial discordance is a well-known condition. Today, the surgical management is to perform a Damus-type operation at the time of the bi-directional Glenn or at the Fontan completion. The ventricular septal defect (VSD) enlargement, associated with muscular resection and a patch enlargement of the subaortic accessory ventricular chamber, is rarely performed but remains indicated in cases with pulmonary valve atresia or regurgitation. This condition is essentially prevented by doing an early Norwood-type operation in the presence of DILV/TA with transposition of the great arteries associated with an aortic arch obstruction. The palliative switch operation is an option that was abandoned because of poor control of the pulmonary blood flow. It is only in cases of large unobstructed BVF that pulmonary artery banding could be undertaken in neonates, followed by close echocardiographic follow-up. The occurrence of a restriction or a closure of the VSD in complex DORV following a Fontan operation is a dramatic event and is quite "new business." It has been recently recognized that the VSD becomes restricted in a number of patients with DORV-nc-VSD treated with a Fontan palliation. This new condition is not surprising knowing that 75% of the VSDs must be enlarged preventively in DORV-nc-VSD repair. In the setting of a Fontan circulation, the supra-systemic left ventricle has severe consequences the right ventricle performance. Attempts at surgical VSD enlargement or catheter-based procedures have resulted in almost constant recurrence. This recently reported complication is in favor of also performing a VSD enlargement at the time of the Fontan completion in complex DORV. It justifies the biventricular repair in complex DORV with two viable ventricles.
Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Dupla Via de Saída do Ventrículo Direito/cirurgia , Atresia Tricúspide/cirurgia , Obstrução do Fluxo Ventricular Externo/cirurgia , Dupla Via de Saída do Ventrículo Direito/complicações , Técnica de Fontan , Humanos , Cuidados Paliativos/métodos , Resultado do Tratamento , Atresia Tricúspide/complicações , Obstrução do Fluxo Ventricular Externo/complicaçõesRESUMO
This is a case report of a double-outlet left ventricle associated with tricuspid atresia and hypoplasia of the right ventricle, diagnosed during echocardiography with color-flow imaging, in a three-month-old child who presented with fatigue and cyanosis. The child underwent palliative pulmonary arterial banding without an invasive procedure, and showed sustained improvement during follow-up.
Assuntos
Ventrículos do Coração/anormalidades , Ventrículos do Coração/diagnóstico por imagem , Atresia Tricúspide/diagnóstico por imagem , Ecocardiografia Doppler em Cores , Feminino , Seguimentos , Átrios do Coração/diagnóstico por imagem , Humanos , Lactente , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia , Atresia Tricúspide/complicaçõesRESUMO
This is a case report of a double-outlet left ventricle associated with tricuspid atresia and hypoplasia of the right ventricle, diagnosed during echocardiography with color-flow imaging, in a three-month-old child who presented with fatigue and cyanosis. The child underwent palliative pulmonary arterial banding without an invasive procedure, and showed sustained improvement during follow-up
Assuntos
Humanos , Feminino , Lactente , Ecocardiografia Doppler em Cores , Ventrículos do Coração , Ventrículos do Coração/anormalidades , Atresia Tricúspide , Seguimentos , Átrios do Coração , Artéria Pulmonar , Artéria Pulmonar/cirurgia , Atresia Tricúspide/complicaçõesRESUMO
Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5%. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10% of cases). Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality.
Assuntos
Anomalia de Ebstein/diagnóstico por imagem , Atresia Tricúspide/diagnóstico por imagem , Adulto , Anomalia de Ebstein/complicações , Feminino , Humanos , Masculino , Atresia Tricúspide/complicações , Ultrassonografia Pré-NatalRESUMO
Ebstein's anomaly is an uncommon congenital heart defect, with a prevalence of 0.3-0.5 percent. Its association with an imperforate tricuspid valve is an even more rare situation (less than 10 percent of cases). Prenatal diagnosis of this association by means of fetal echocardiography has not been reported. We describe here this association diagnosed before birth and confirmed after birth. The diagnostic potential and importance of fetal echocardiography during prenatal evaluation of cardiac malformations allows for adequate perinatal planning and management, with an obvious impact on morbidity and mortality
Assuntos
Humanos , Feminino , Gravidez , Adulto , Recém-Nascido , Anomalia de Ebstein , Atresia Tricúspide , Ultrassonografia Pré-Natal , Anomalia de Ebstein/complicações , Anomalia de Ebstein/cirurgia , Atresia Tricúspide/complicações , Atresia Tricúspide/cirurgiaRESUMO
BACKGROUND: The neural crest influences the differentiation of the branchial arches, including the precursor tissue of the cardiac outflow tract and the eustachian tubes. Abnormal eustachian tubes are associated with otitis media. We hypothesized a relationship between conotruncal anomalies and eustachian tube anomalies. METHODS: We surveyed 115 nonsyndromic patients, aged 5 to 20 years, attending a state-run pediatric cardiology clinic. The cardiac anomalies were conotruncal (transposition of the great arteries, tetralogy of Fallot, or aortic stenosis) or nonconotruncal (atrial septal defect, tricuspid atresia, atrioventricular canal). Tympanic membrane photographs were categorized independently by two physicians as to normal, abnormal (scarred or other indication of otitis proneness), or indeterminate. RESULTS: For the 37 patients who had both ears categorized as normal or abnormal by both physicians, 20 of the 26 with a conotruncal anomaly had evidence of otitis media. In contrast, only 4 of 11 with nonconotruncal cardiac anomaly had evidence of otitis (p < 0.03; relative risk [conotruncal vs nonconotruncal], 5.83; 95% confidence interval, 1.26 to 26.95). CONCLUSION: The concept is supported that a neural crest determined branchial field defect influences the development of the cardiac outflow tract and the eustachian tubes. Children with congenital cardiac conotruncal anomalies are otitis media prone.