RESUMO
Fetal diagnosis of scimitar syndrome requires a high index of suspicion. We present two fetal cases of complex congenital heart disease associated with scimitar syndrome, one of them is diagnosed with scimitar syndrome in utero. We emphasize prenatal echocardiographic findings that may assist with arriving at the correct prenatal diagnosis. We also discuss potential challenges in suspecting the presence of scimitar syndrome in utero. The postnatal echocardiographic findings and course are described for both patients. We reviewed the available literature on prenatal diagnosis of scimitar syndrome in the presence of complex congenital heart disease. We describe a new association of VACTERL, imperforate anus, scimitar syndrome, and double-outlet right ventricle all on the same patient, as well as the first prenatal diagnosis of scimitar syndrome associated with hypoplastic left heart syndrome with restrictive atrial septum. Advanced imaging modalities such as a fetal lung Magnetic Resonance Imaging is suggested as a confirmatory test when scimitar syndrome is suspected in utero in the presence of complex congenital heart disease.
Assuntos
Dupla Via de Saída do Ventrículo Direito , Síndrome do Coração Esquerdo Hipoplásico , Síndrome de Cimitarra , Feminino , Humanos , Gravidez , Síndrome de Cimitarra/complicações , Diagnóstico Pré-Natal , Síndrome do Coração Esquerdo Hipoplásico/complicações , Imageamento por Ressonância Magnética , Dupla Via de Saída do Ventrículo Direito/complicações , Coração FetalRESUMO
Abstract Although many anatomical variations may be encountered in children with double outlet right ventricle, coexistence of levo-malposed great vessels and left juxtaposed atrial appendages is uncommonly observed. This case report underlines the rarity of this anatomical combination and its clinical significance along with the surgical management in an infant.
Assuntos
Humanos , Lactente , Criança , Transposição dos Grandes Vasos/diagnóstico por imagem , Dupla Via de Saída do Ventrículo Direito/cirurgia , Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Apêndice Atrial/cirurgia , Apêndice Atrial/diagnóstico por imagem , Cardiopatias Congênitas/cirurgia , Cardiopatias Congênitas/diagnóstico por imagem , ArtériasRESUMO
Resumen En el siguiente reporte se expone un caso complejo en el que coexisten malformaciones cardiacas congénitas de presentación atípica con un doble tracto de salida del ventrículo derecho, en un paciente con múltiples anomalías menores en la exploración física y un cariotipo normal. La atipia de cada una de estas y su coexistencia hacen pensar en posibles alteraciones genéticas que aún son desconocidas. Lo anterior supone un reto terapéutico con el fin de restaurar una fisiología cardiaca compatible con la vida, lo cual se logra en este caso mediante un cerclaje exitoso de la arteria pulmonar.
Abstract The following report presents a complex case in which congenital cardiac malformations of atypical presentation coexist with a double outlet right ventricle, in a patient with multiple minor abnormalities on the physical examination and a normal karyotype. The atypia of these and their coexistence suggest possible genetic alterations that are still unknown. Therefore, a therapeutic challenge in order to restore a cardiac physiology compatible with life is proposed, which is achieved in this case through a successful banding of the pulmonary artery.
Assuntos
Humanos , Dupla Via de Saída do Ventrículo Direito , Dextrocardia , Artéria Pulmonar , Anormalidades Congênitas , Hipertensão PulmonarRESUMO
Although many anatomical variations may be encountered in children with double outlet right ventricle, coexistence of levo-malposed great vessels and left juxtaposed atrial appendages is uncommonly observed. This case report underlines the rarity of this anatomical combination and its clinical significance along with the surgical management in an infant.
Assuntos
Apêndice Atrial , Dupla Via de Saída do Ventrículo Direito , Cardiopatias Congênitas , Transposição dos Grandes Vasos , Artérias , Apêndice Atrial/diagnóstico por imagem , Apêndice Atrial/cirurgia , Criança , Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Dupla Via de Saída do Ventrículo Direito/cirurgia , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Transposição dos Grandes Vasos/diagnóstico por imagem , Transposição dos Grandes Vasos/cirurgiaRESUMO
BACKGROUND: The double outlet right ventricle is uncommon and usually makes patients have haemodynamic and structural complications. Having a hyperdynamic state, such as pregnancy, with volume overload is very risky for a patient with complex CHD (CCHD). The diagnosis in early stages can prevent cardiac complications. The multi-disciplinary assessment of the disease lets patients make choices in treatment and reproductive life. OBJECTIVE: Present a case of a successful pregnancy in a patient with a rare CCHD. PARTICIPANT: A pregnant 19-year-old patient with a double outlet right ventricle without haemodynamic or structural complications and no fetal abnormalities.
Assuntos
Dupla Via de Saída do Ventrículo Direito/diagnóstico , Ecocardiografia/métodos , Complicações Cardiovasculares na Gravidez , Ultrassonografia Pré-Natal/métodos , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Adulto JovemRESUMO
OBJECTIVE: Double outlet right ventricle (DORV) is a complex cardiac malformation with many anatomic variations and various approaches for surgical repair. This study aimed to describe the clinical outcomes of biventricular (BiV) repair for DORV. METHODS: Patients with DORV, who underwent BiV repair between January 2000 and December 2017 were retrospectively reviewed. Group 1 underwent primary BiV repair, whereas group 2 underwent staged BiV repair over a series of operations. The decision to pursue staged approach included complexity of intracardiac anatomy, age of the patient, and the size and function of the ventricles and the atrioventricular valves. Time-dependent surgical reintervention for LVOTO and mortality were evaluated using Kaplan-Meier survival analysis. RESULTS: A total of 238 patients with DORV underwent BiV repair at a median age of 6.2 months (range, 1.1 month-27.5 years) (158 in group 1, 80 in group 2). Twenty-two patients (7.8%) required surgical reintervention within 30 days of BiV repair. Overall survival at 5 years was 89.0%. Freedom from LVOTO reoperation at 5 years was 84%. Primary outcomes were not significantly different between groups. CAVC repair and right ventricle to pulmonary artery conduit at BiV repair were associated with higher surgical reintervention (hazard ratio, 2.9 and 1.75, respectively). CONCLUSIONS: Patients with DORV and complex anatomy may undergo staged BiV repair with acceptable outcomes. Although LVOTO is a potential complication in these patients, the rate of surgical reintervention for LVOTO does not differ significantly from patients undergoing primary BiV repair.
Assuntos
Humanos , Feminino , Adulto , Estenose da Valva Pulmonar/diagnóstico por imagem , Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Comunicação Interventricular/diagnóstico por imagem , Aorta/diagnóstico por imagem , Estenose da Valva Pulmonar/fisiopatologia , Dupla Via de Saída do Ventrículo Direito/fisiopatologia , Ecocardiografia , Espectroscopia de Ressonância Magnética , Radiografia Torácica , Diagnóstico Diferencial , Eletrocardiografia , Comunicação Interventricular/fisiopatologiaRESUMO
Objetivo: Se presenta una explicación patogenética sobre la morfogénesis de la doble salida de ventrículo derecho que explica su origen. Método: Se describieron 35 corazones con doble salida de ventrículo derecho, 15 con grandes arterias ligeramente cruzadas, 10 con arterias lado a lado y 10 con aorta anterior y pulmonar posterior. Se comparó el plano de separación de las vías de salida y de las grandes arterias en los 3 tipos de esta cardiopatía, con el plano de la tabicación troncoconal normal del corazón embrionario. Se determinó el plano cefálico del tabique troncoconal y se comparó con la posición de su borde inferior, con lo cual se calculó el grado de torsión troncoconal en cada grupo de esta cardiopatía; esto permitió inferir el tipo de giro de ese tabique en las 3 formas anatómicas mencionadas. Resultados: En las grandes arterias ligeramente cruzadas el giro troncoconal fue de 135°,en las arterias lado a lado fue de 90°, en la aorta anterior derecha fue de 0° y en la aorta anterior izquierda fue de -90°. Conclusión: Embriológicamente esta cardiopatía se origina por persistencia de la continuidad entre el ventrículo derecho y el troncocono, que origina las vías de salida y las grandes arterias. Sus variantes anatómicas se originan por una detorsión progresiva del tabique troncoconal continuada con una torsión de -90°.
Objective: It is proposed a pathogenetic explanation that explains the morphogenesis of the anatomic variants of double outlet right ventricle. Method: An anatomic embryological correlation was made in which the plane separating the outlets and great arteries in the types of this cardiopathy was compared with the normal truncoconal septum in the embryonic heart. Thirty five hearts with double outlet right ventricle were described, fifteen with great arteries slightly crossed, ten with side by side great arteries and ten with anterior aorta and posterior pulmonary artery. The cephalic border of the truncoconal septum was compared with its inferior border in each group. With this procedure we calculated the type of torsion of the truncoconal septum. Results: In the slightly crossed great arteries the truncoconal twist was of 135° in side by side great arteries the twist was of 90° and in anterior right aorta the truncoconal septum was straight with 0° of rotation, and with left anterior aorta the rotation was of -90°. Conclusion: Embryologically double outlet right ventricle is originated by the persisting continuity between the right ventricle with the truncus and conus which form the great arteries and their outlets. The anatomic variations are the consequence of progressive detortion of the truncoconal septum followed by a torsion of -90°.
Assuntos
Humanos , Dupla Via de Saída do Ventrículo Direito/embriologia , CadáverRESUMO
Introducción La evolución de los pacientes operados con técnica de Rastelli revela que se trata de un procedimiento quirúrgico complejo no exento de morbilidad y mortalidad a mediano y a largo plazos. Las complicaciones serían, aparentemente, más frecuentes cuando la comunicación interventricular (CIV) es anatómicamente remota o no relacionada con la aorta. Objetivo Evaluar el impacto de la localización anatómica de la CIV en la cirugía de Rastelli. Material y métodos Se incluyeron 47 pacientes con una media (X) de seguimiento posquirúrgico de 6 años (15 meses-14 años). Los pacientes se subdividieron en: grupo I, CIV relacionada con la aorta (n = 29) y grupo II, CIV remota o no relacionada (n = 18). Resultados En el posquirúrgico inmediato, las reoperaciones (p = 0,05) fueron más frecuentes en el grupo II, en el cual se observó también una tendencia a mayor frecuencia de arritmias (p = 0,06). Luego de una X = 3 años (1 día-13 años) posquirúrgicos se realizaron 27 reoperaciones en 22 pacientes. Se cerró CIV residual en 11 pacientes a una X = 1 mes. En 8 de ellos, la CIV era remota (p =0,007). Desarrollaron estenosis subaórtica que requirieron cirugía 6 pacientes a una X = 5 años. Se reemplazó el conducto ventrículo derecho-arteria pulmonar en 12 pacientes a una X = 5 años. La mortalidad en el período posquirúrgico inmediato fue del 6% (3 pacientes). La mortalidad global fue del 17,2% (n = 8); 7 pacientes tenían CIV no relacionada (p = 0,003). Conclusiones La CIV remota en la cirugía de Rastelli se asocia con: 1) mayor mortalidad, 2) mayor frecuencia de reoperaciones en el posquirúrgico inmediato y 3) tendencia a mayor frecuencia de arritmias en el posquirúrgico inmediato.
Background The Rastelli procedure is complex surgical procedure with marked morbidity and mortality in the medium and long-term follow-up. These adverse outcomes seem to be more frequent when the ventricular septal defect (VSD) is anatomically remote or noncommitted to the aorta. Objective To evaluate the impact of the anatomical location of the VSD on the outcomes of the Rastelli procedure. Material and Methods A total of 47 patients were included with a mean follow-up of 6 years after surgery (15 months-14 years). Patients were divided into two groups: group I (committed VSD, n=29) and group II (remote or noncommitted VSD, n=18). Results During the immediate postoperative period, reoperations and arrhythmias were more frequent in group II (p=0.05 and p=0.06, respectively). After a mean follow-up of 3 years (1 day-13 years) following surgery, 22 patients underwent 27 reoperations. A residual VSD was closed in 11 patients at a mean of 1 month, 8 of which were remote VSD (p=0.007). Six patients developed subaortic stenosis requiring surgery at a mean of 5 years. The right ventricleto-pulmonary artery conduit was replaced in 12 patients at a mean of 5 years. Immediate postoperative mortality was 6% (3 patients). Global mortality was 17.2% (n=8); 7 patients had noncommitted VSD (p=0.003). Conclusions Remote VSD in patients undergoing the Rastelli procedure is associated with: 1) increased mortality, 2) greater incidence of reoperations in the immediate postoperative period, and, 3) a trend towards greater incidence of arrhythmias in the immediate postoperative period.