Coração em Criss-Cross: um relato de caso / Criss-Cross Heart: a case report

Coração em criss-cross (ou coração entrecruzado) foi descrito pela primeira vez em 1974. Trata-se de uma malformação cardíaca congênita, rara, ocorrendo 8 casos a cada 1.000.000 de crianças, e representando somente 0,1% das malformações congênitas. Os métodos diagnósticos de escolha são o ecocardiograma transtorácico, a ressonância magnética cardíaca (RMC), a angiotomografia (TC) e, eventualmente, o cateterismo cardíaco. Neste relato, descreve-se o caso de um recém-nascido com coração em criss-cross somado à dupla via de saída do ventrículo direito (VD), com vasos mal posicionados, além de comunicação interatrial (CIA), comunicação interventricular (CIV), displasia de valva tricúspide e veia cava superior esquerda persistente. Não se sabe a etiologia exata dessa malformação, mas parece ocorrer pela rotação dos ventrículos em seu eixo longitudinal, não acompanhada das rotações atrial e das valvas atrioventriculares (AV). Esse movimento produz uma alteração das vias de entrada dos ventrículos, determinando que o VD se posicione em plano superior e o esquerdo em plano inferior. Apesar de ainda não se saber a exata causa dessa anomalia, acredita-se que uma alteração genética possa estar levando a esses casos: a mutação do gene Cx43. O diagnóstico do caso em questão foi dado pela ecocardiografia transtorácica e da TC de aorta e artérias pulmonares, que mostraram, além do criss-cross, outras alterações, como dupla via de saída do VD, CIA e CIV amplas.(AU)

Criss-cross heart was first described in 1974. It is a rare congenital heart malformation that occurs in 8 cases per 1,000,000 children, and represents only 0.1% of congenital malformations. The diagnostic methods of choice are transthoracic echocardiography, cardiac magnetic resonance (CMR), computed tomography angiography (CT) and, sometimes, cardiac catheterization. This report describes the case of a newborn with a criss-cross heart in addition to double-outlet right ventricle (RV), with poorly positioned vessels, in addition to atrial septal defect (ASD), interventricular septal defect, tricuspid valve dysplasia and persistent left superior vena cava. The exact etiology of this malformation is not known, but it seems to occur due to rotation of the ventricles in their longitudinal axis, not accompanied by rotation of the atrial and atrioventricular (AV) valves. This movement produces abnormal ventricular inlets, determining that the RV be positioned on a superior plane and the left ventricle on an inferior plane. Although the exact cause of this anomaly is still unknown, it is believed that a genetic abnormality may be leading to these cases: mutation of the Cx43 gene. Diagnosis of the case concerned was given by transthoracic echocardiography and computed CT of the aorta and pulmonary arteries, which showed, in addition to the criss-cross heart, other abnormalities, such as double-outlet RV, large ASD and ventricular septal defect (VSD).(AU)

A Quite Rare Association: Levo-Malposition of the Great Arteries with Left Juxtaposition of the Atrial Appendages in "Double Outlet Right Ventricle"

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.

Dextrocardia con doble salida del ventrículo derecho con comunicación interventricular no relacionada asociada a malposición de grandes vasos / Right ventricular double outlet dextrocardia with unrelated ventricular septal defect associated with great vessel malposition

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.

Éxitus materno tras cesárea en gestante con anomalía de Taussig-Bing y síndrome de Eisenmenger / Maternal Exitus after Cesarean Section in Pregnant Women with Taussig-Bing Anomaly and Eisenmenger Syndrome

La anomalía de Taussig-Bing es una cardiopatía congénita cianosante caracterizada por la dextrotransposición de grandes vasos. Esta produce una doble salida arterial desde el ventrículo derecho, asociado a una comunicación interventricular. Este cuadro puede generar una hipertensión pulmonar secundaria al aumento de las resistencias vasculares y un flujo reverso cardiaco, conocido como síndrome de Eisenmenger. Normalmente, se presenta antes de la pubertad, aunque en ocasiones, puede debutar en la vida adulta, progresando durante dicha etapa. Clínicamente, se caracteriza por rasgos crónicos, como las acropaquias, la disnea, la sensación de cansancio o la cianosis. El diagnóstico de este tipo de cardiopatías se basa en la clínica y en las pruebas de imagen, preferentemente en el estudio ecocardiográfico fetal o durante la edad pediátrica. El tratamiento de elección es la corrección quirúrgica de las malformaciones cardiacas, siendo preferente la rectificación de la salida de la aorta y el cierre de la comunicación interventricular. El pronóstico depende del grado de hipertensión pulmonar, del momento del diagnóstico y de la corrección quirúrgica precoz. A edades tempranas se obtiene un mejor resultado, aunque las tasas de mortalidad alcanzan 50 % en algunos casos, incluso tras una corrección quirúrgica óptima. La gestación no está recomendada en pacientes que padecen dicha patología, la cual se ha contraindicado, según algunos estudios, en ausencia de tratamiento adecuado. Así pues, describimos un caso en el que una gestante con una anomalía Taussig-Bing sufre una atonía uterina y un posterior paro cardiorrespiratoria tras el parto, realizado mediante cesárea electiva, tras la que la paciente falleció(AU)

The Taussig-Bing anomaly is a congenital cyanosis characterized by the dextrotransposition of large vessels. It produces a double arterial exit from the right ventricle, associated with an interventricular communication. This may lead to pulmonary hypertension secondary to increased vascular resistance and a cardiac reverse flow, known as Eisenmenger syndrome. Generally, it occurs before puberty, although occasionally, it can debut in adults, progressing during that stage. It is clinically characterized by chronic features, such as acropachies, dyspnea, tiredness or cyanosis. The diagnosis of this type of heart disease is based on clinical exam and imaging tests, if at all possible in the fetal echocardiographic study or during the pediatric age. The surgical correction of cardiac malformations is the treatment of choice, modifying the aortic exit and closing of ventricular septal defect. The prognosis depends on the degree of pulmonary hypertension, the time of diagnosis, and the early surgical correction. Better outcome is obtained at early ages, although mortality rates reach 50% in some cases, even after optimal surgical correction. Pregnancy is not recommended in patients suffering from this disease. Some studies contraindicate pregnancy in absence of proper treatment. Thus, we describe a case of a pregnant woman with a Taussig-Bing anomaly, who suffered uterine atony and a subsequent cardiorespiratory arrest after delivery. Elective cesarean section was performed. This patient died(AU)

Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.

Surgical Treatment of Double Outlet Right Ventricle Complicated by Pulmonary Hypertension / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Double outlet right ventricle (DORV) is a group of complex congenital heart abnormalities. Preoperative pulmonary hypertension (PH) is considered an important risk factor for early death during the surgical treatment of DORV. The aim of this study was to report our experience on surgical treatment of DORV complicated by PH.</p><p><b>METHODS</b>From June 2004 to November 2016, 61 patients (36 males and 25 females) aged 2 weeks to 26 years (median: 0.67 years and interquartile range: 0.42-1.67 years) with DORV (two great arteries overriding at least 50%) complicated by PH underwent surgical treatment in our center. All patients were categorized according to surgical age and lesion type, respectively. Pulmonary artery systolic pressure (PASP), pulmonary artery diastolic pressure (PADP), and mean pulmonary artery pressure (mPAP) were measured directly before cardiopulmonary bypass (CPB) was established and after CPB was removed. An intracardiac channel procedure was performed in 37 patients, arterial switch procedure in 19 patients, Rastelli procedure in three patient, Senning procedure in one patients, and Mustard procedure in one patient. The Student's t-test and Chi-squared test were performed to evaluate clinical outcomes of the surgical timing and operation choice.</p><p><b>RESULTS</b>Fifty-five patients had uneventful recovery. PASP fell from 55.3 ± 11.2 mmHg to 34.7 ± 11.6 mmHg (t = 14.05, P < 0.001), PADP fell from 29.7 ± 12.5 mmHg to 18.6 ± 7.9 mmHg (t = 7.39, P < 0.001), and mPAP fell from 40.3 ± 10.6 mmHg to 25.7 ± 8.3 mmHg (t = 11.85, P < 0.001). Six (9.8%) patients died owing to complications including low cardiac output syndrome in two patients, respiratory failure in two, pulmonary hemorrhage in one, and sudden death in one patient. Pulmonary artery pressure (PAP) dropped significantly in infant and child patients. Mortality of both infants (13.9%) and adults (33.3%) was high.</p><p><b>CONCLUSIONS</b>PAP of patients with DORV complicated by PH can be expected to fall significantly after surgery. An arterial switch procedure can achieve excellent results in patients with transposition of the great arteries type. Higher incidence of complications may occur in patients with ventricular septal defect (VSD) type before 1 year of age. For those with remote VSD type, VSD enlargement and right ventricle outflow tract reconstruction are usually required with acceptable results. The degree of aortic overriding does not influence surgical outcome.</p>

Catheter Ablation of Peri-Conduit Ventricular Tachycardia in a Patient with Rastelli Procedure for Double Outlet Right Ventricle with Malposition of Great Arteries

No abstract available.

Long-Term Follow-Up of the Half-Turned Truncal Switch Operation for Transposition of the Great Arteries with Ventricular Septal Defect and Pulmonary Stenosis

The half-turned truncal switch (HTTS) operation has been reported as an alternative to the Rastelli or réparation à l'étage ventriculaire procedures. HTTS prevents left ventricular outflow tract (LVOT) obstruction in patients with complete transposition of the great arteries (TGA) with a ventricular septal defect (VSD) and pulmonary stenosis (PS), or in those with a Taussig-Bing anomaly with PS. The advantages of the HTTS procedure are avoidance of late LVOT or right ventricular outflow tract (RVOT) obstruction, and of overstretching of the pulmonary artery. We report the case of a patient who underwent HTTS for TGA with VSD and PS, in whom there was no LVOT obstruction and only mild aortic regurgitation and mild RVOT obstruction, including observations at 12-year follow-up. Our experience with long-term follow-up of HTTS supports a solution for late complications after the Rastelli procedure.

Aortic Root Translocation with Arterial Switch for Transposition of the Great Arteries or Double Outlet Right Ventricle with Ventricular Septal Defect and Pulmonary Stenosis

Double outlet right ventricle (DORV) and transposition of the great arteries (TGA) with ventricular septal defect (VSD) and pulmonary stenosis (PS) are complex heart diseases, the treatment of which remains a surgical challenge. The Rastelli procedure is still the most commonly performed treatment. Aortic root translocation including an arterial switch operation is advantageous anatomically since it has a lower possibility of conduit blockage and the left ventricle outflow tract remains straight. This study reports successful aortic root transpositions in two patients, one with DORV with VSD and PS and one with TGA with VSD and PS. Both patients were discharged without postoperative complications.

Value of a novel categorization of congenital double-outlet right ventricle on guiding the choice of surgical approaches / 中华心血管病杂志

<p><b>OBJECTIVE</b>To explore the feasibility and value of a new categorization of double outlet right ventricular (DORV) on guiding the optimal choices of surgical approaches.</p><p><b>METHODS</b>Five hundred and twenty one DORV patients diagnosed by echocardiography, angiocardiography and CT at Fuwai Hospital from May 2003 to September 2014 were enrolled in this retrospective study. Congenital DORV was categorized according to three basic factors as follows: the positional relationships of great arteries (normal relation or abnormal relation), the relationships of the ventricular septal defect (VSD) to the great arteries (committed VSD or remote VSD), the presence or absence of pulmonary outflow tract obstruction (POTO). Eight types of DORV were established: type I (normal relation, committed VSD, without POTO), type II (normal relation, committed VSD, POTO), type III (normal relation, remote VSD, without POTO), type IV (normal relation, remote VSD, POTO), type V (abnormal relation, committed VSD, without POTO), type VI (abnormal relation, committed VSD, POTO), type VII (abnormal relation, remote VSD, without POTO), type VIII (abnormal relation, remote VSD, POTO). Feasibility of this classification and the value of this classification on guiding the choice of surgical approaches were analyzed.</p><p><b>RESULTS</b>Among the five hundred and twenty one patients, there were 90 patients (17.3%) with type I DORV, 94 patients (18.0%) with type II, 33 patients (6.3%) with type III, 34 patients (6.5%) with type IV, 64 patients (12.3%) with type V, 61 patients (11.7%) with type VI, 33 patients (6.3%) with type VII, 112 patients (21.5%) with type VIII. Thus, all patients could be typed by this classification method. The echocardiography diagnosis was consistent with the intra-operative and or cardiac catheterization/CT findings. Excluding the contraindications of bi-ventricular repair, different surgical approaches were performed in every subtype of DORV according the classification, which indicated that this novel categorization could accurately guide the clinic managements.</p><p><b>CONCLUSION</b>This novel DORV categorization can accurately diagnose DORV lesions, and guide the clinic therapy choice.</p>

Prenatal diagnosis of atrial isomerism in the Korean population

OBJECTIVE: To report our experiences in the prenatal diagnosis of atrial isomerism and postnatal outcomes. METHODS: A total of 80 fetuses prenatally diagnosed with atrial isomerism were retrospectively analyzed between 1999 and 2011 at a single institution. RESULTS: Of 43 fetuses with prenatally diagnosed right atrial isomerism (RAI), 40 cases were analyzed. The diagnostic accuracy was 93%. The main intracardiac anomalies in RAI were atrioventricular septal defect (AVSD), abnormal pulmonary venous connection, bilateral superior vena cava (BSVC), and pulmonary atresia. Among 28 live births, three infants were lost to follow up, and the overall survival rate was 60%. Of 37 fetuses with prenatally diagnosed left atrial isomerism (LAI), 35 were evaluated. The diagnostic accuracy was 97%. The main intracardiac anomalies in LAI were ventricular septal defect, BSVC, AVSD, double outlet right ventricle, and bradyarrhythmia. Among seven patients with bradyarrhythmia, only one showed a complete atrioventricular block. All fetuses had an interrupted inferior vena cava with azygous continuation. The overall survival rate was 90%. CONCLUSION: Our study confirms the previous findings of fetal atrial isomerism. We also demonstrates a much lower prevalence of AVSD and complete heart block in LAI and a better survival rate in RAI. Although the postnatal outcomes for RAI were worse than those for LAI, successful postnatal surgery with active management improved the survival rate.

Inhaled iloprost for the treatment of patient with Fontan circulation / 소아과

Decreased exercise capacity after Fontan surgery is relatively common and the failure of the Fontan state gradually increases with age. However, there is no further treatment for patients with Fontan circulation. Pulmonary vasodilation therapy is an effective method to solve this problem because pulmonary vascular resistance is a major factor of the Fontan problem. Inhaled iloprost is a chemically stable prostacyclin analogue and a potent pulmonary vasodilator. We experienced two cases of Fontan patients treated with inhaled iloprost for 12 weeks. The first patient was an 18-year-old female with pulmonary atresia with an intact ventricular septum, and the second patient was a 22-year-old male with a double outlet right ventricle. Fifteen years have passed since both patients received Fontan surgery. While the pulmonary pressure was not decreased significantly, improved exercise capacity and cardiac output were observed without any major side effects in both patients. The iloprost inhalation therapy was well tolerated and effective for the symptomatic treatment of Fontan patients.

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

OBJECTIVE: To analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally. METHODS: This retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea. RESULTS: Main cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava. CONCLUSION: A variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion.

Abnormal Origin of the Left Subclavian Artery from the Left Pulmonary Artery in a Patient with Double Outlet Right Ventricle

Anomalous aortic origin of the left subclavian artery (LSCA) from the left pulmonary artery (LPA) is a rare congenital cardiac malformation. We describe a case of LSCA from the LPA via ductus arteriosus in association with a double-outlet right ventricle, which never has been reported previously in Korea.

Discordância atrioventricular associada à dupla via de saída do ventriculo direito: um raro caso com 28 anos e nenhuma cirurgia / Atrioventricular discordance and double outlet right ventricle: a rare case of a 28 year old man without surgery

Relatamos o raro caso de um paciente de 28 anos, com diagnóstico de discordância atrioventricular e dupla via de saída do ventrículo direito, obtido somente após o ecocardiograma transesofágico e sem cirurgia prévia onde a estenose pulmonar importante atuou como bandagem pulmonar natural, possibilitando essa evolução.

We report a rare case of a 28 years old patient with the diagnosis of atrioventricular discordance and double outlet right ventricle, obtained only after transesophageal echocardiogram and no surgery. Severe pulmonary stenosis was the natural banding allowing this outcome.