Critical Congenital Heart Disease Sadly Diagnosed at Autopsy in Calabar, South-South Nigeria

Congenital heart disease (CHD) is the most common type of birth defect causing more deaths in the first year of life than any other birth defect. Medical practice in a third-world country is faced with numerous challenges, created by poor health facilities and the unavailability of basic imaging studies at the community level where the majority of the poor resides. We present a case series of 4 neonates with a ratio of 1: 3 admitted into the neonatology unit of the University of Calabar Teaching Hospital, Calabar, Nigeria. Two of the patients were delivered at home by a traditional birth attendant via spontaneous vertex delivery and the rest two were booked cases in a private and obstetric unit of the University of Calabar Teaching Hospital. Their age ranged were 18 hours to 27 days of life and their common presentation were poor sucking, difficulty in breathing, central cyanosis and failure to thrive. A fetal echocardiogram was carried out for one of the cases and there was strong clinical suspicion of congenital heart disease but the precise type is unknown. The other three could not afford the necessary investigations required. They were all oxygen-dependent till death. Pathologic-anatomic findings showed a rare Critical congenital heart defect of the univentricular heart chamber of various types for the three cases and a case of TGA. The Immediate cause of death for all four cases was congestive cardiac failure.

Glenn surgery: a safe procedure in the path of univentricular correction / Cirugía de Glenn: un procedimiento seguro en el camino de la corrección univentricular

Abstract Background: This study describes 35 years of experience in a tertiary care level hospital that treats cardiac patients with univentricular heart physiology who underwent Glenn surgery. Methods: The study consisted of a retrospective analysis of patients who underwent Glenn surgery, including variables related to pre-operative, intra-operative, and post-operative morbidity and mortality. Results: From 1980 to 2015, 204 Glenn surgeries were performed. The most common heart disease was tricuspid atresia IB (19.2%). In 48.1% of the cases, the procedure was performed with antegrade flow. A bilateral Glenn procedure was performed in 12.5% of the cases and 10.3% were carried out without using a cardiopulmonary bypass pump. Reported complications included infections, bleeding, arrhythmias, chylothorax, neurological alterations, and pleural effusion. The mortality rate was 2.9% Conclusions: Glenn surgery is a palliative surgery with good results. It significantly improves patient quality of life over a long period until a total cavopulmonary shunt is performed. The complications observed are few, and the mortality rate is low. Therefore, it is a safe surgery that should be used for univentricular congenital heart disease.

Resumen Introducción: El objetivo de este trabajo fue describir la experiencia de 35 años en un hospital de tercer nivel con pacientes cardiópatas con fisiología univentricular que fueron sometidos a cirugía de Glenn. Métodos: Se presenta un análisis retrospectivo de los pacientes sometidos a cirugía de Glenn. Se incluyeron variables relacionadas con la morbilidad y la mortalidad preoperatorias, transoperatorias y posoperatorias. Resultados: Desde 1980 hasta 2015 se realizaron 204 cirugías de Glenn para la corrección de cardiopatías. De ellas, la más frecuente fue la atresia tricuspídea IB (19.2%); en el 48.1% se realizó Glenn con flujo anterógrado, en el 12.5% Glenn bilateral y el 10.3% de las cirugías fueron sin apoyo de bomba de circulación extracorpórea. Las complicaciones reportadas fueron infecciones, sangrado, arritmias, quilotórax, alteraciones neurológicas y derrame pleural. La mortalidad fue del 2.9%. Conclusiones: La cirugía de Glenn es un procedimiento paliativo que se ha utilizado con buenos resultados. Mejora en forma importante la calidad de vida del paciente durante un largo periodo mientras que se realiza la derivación cavopulmonar total. Presenta pocas complicaciones y muy baja mortalidad, por lo que es una cirugía segura que debe ser utilizada para cardiopatías congénitas univentriculares.

Hepatopatía crónica asociada a Fontan: a propósito de dos casos y revisión de la literatura / Fontan-associated liver disease: report of two cases and literature review

La técnica quirúrgica de Fontan consiste en transmitir el flujo de la vena cava inferior a través de una anastomosis cavopulmonar para evitar que se mezcle la sangre oxigenada con la no oxigenada, en caso de atresia tricuspídea asociada a ventrículo hipoplásico. Las alteraciones fisiológicas que produce esta nueva circulación tienen varias consecuencias a nivel cardiaco y extracardiaco, incluido el hígado, con múltiples descripciones de hepatopatía crónica de origen vascular, e incluso de carcinoma hepatocelular en hígado cirrótico a edades tempranas. Con el objetivo de conocer un poco más sobre las afectaciones hepáticas que produce este procedimiento, se describen dos casos clínicos y se realiza una revisión de la literatura. A pesar de que la hepatopatía asociada a Fontan es una entidad poco frecuente, los hepatólogos deben tenerla presente y aprender a reconocerla, ya que un adecuado seguimiento puede ser la diferencia al momento de seleccionar de manera eficaz, aquellos pacientes que se beneficiarían de un trasplante cardiaco único o combinado de hígado y corazón, además de permitir la detección de manera oportuna de complicaciones tan devastadoras como un carcinoma hepatocelular en estadios avanzados.

Fontan surgery diverts the flow of the inferior vena cava through a cavopulmonary anastomosis, to avoid mixing the oxygenated and non-oxygenated blood, in the presence of tricuspid atresia associated with hypoplastic ventricle. The physiological changes produced by this new circulation have several consequences at cardiac and extracardiac level, including the liver, with multiple descriptions of chronic liver disease of vascular origin, and even hepatocellular carcinoma in cirrhotic liver at an early age. With the aim of a better understanding of liver complications caused by this procedure, two clinical cases are described and a literature review is presented. Despite the fact that Fontan-associated liver disease is a rare entity, hepatologists must keep it in mind and learn how to recognize it, since an adequate follow-up can make the difference when effectively selecting those patients who would benefit from a single or combined liver and/or heart transplant, as well as allowing the early detection of devastating complications such as advanced stage hepatocellular carcinoma.

Seguridad de la re-esternotomía media en el tratamiento paliativo de pacientes con corazón univentricular / Safety of repeat median sternotomy in the palliative treatment of patients with a univentricular heart

Resumen: Objetivo: Describir la morbimortalidad operatoria relacionada a re-esternotomía media en pacientes con corazón univentricular en el Instituto Nacional de Pediatría. Método: Estudio de serie de casos retrospectiva, descriptiva y analítica del año 2001 al 2016. Resultados: Se encontraron 65 pacientes que requirieron 76 procedimientos. Hubo 59 primeras re-esternotomías, con promedio de edad de 36 meses (4-176 meses) y peso 12.2 kg (3.2-21.5 kg); se realizaron 40 procedimientos de Glenn y 19 procedimientos de Fontan. Se practicaron 17 segundas re-esternotomías, con promedio de edad de 89 meses (48-156 meses) y 22.7 kg de peso (14.4-41 kg), en quienes se realizaron 17 procedimientos de Fontan. Hubo dos lesiones en primeras re-esternotomías, una lesión a la coronaria derecha con cambios electrocardiográficos, y una apertura incidental de la aurícula derecha que causó hipotensión. Reportamos una muerte secundaria a lesión de la aorta con sangrado masivo durante una segunda re-esternotomía, lo que representa una morbimortalidad del 3.9%. Conclusiones: Concluimos que la re-esternotomía es un procedimiento seguro en nuestro centro.

Abstract: Objective: To establish the morbidity and mortality of patients with univentricular hearts who underwent a repeat median sternotomy at the Instituto Nacional de Pediatría. Method: A retrospective review was performed on the clinical charts of all patients who under-went a repeat median sternotomy from 2001 to 2016. Results: Sixty-five patients underwent 76 surgeries by repeat median sternotomy. Fifty-nine patients had a first repeat median sternotomy, with a mean age of 36 months (range: 4-176 months) and a mean weight of 12.2 kg (range: 3.2-21.5 kg). Forty patients had a Glenn procedure, and 19 patients had a Fontan procedure. There were 17 patients with a second repeat median sternotomy, with a mean age of 89 months (range 48-156 months), and a mean weight of 22.7 kg (14.4-41 kg). A Fontan procedure was performed on all these 17 patients. A section of the right coronary artery with electrocardiographic changes and a right atrium tear that caused hypotension occurred during first repeat sternotomy. An aortic tear occurred during a second repeat sternotomy with massive bleeding and subsequent death. This represents 3.9% of re-entry injuries. Conclusion: It is concluded that repeat median sternotomy is a safe procedure.

Anomalía de Ebstein «like¼ en doble entrada ventricular. Una rara asociación / Ebstein's "like" anomaly ventricular double inlet. A rare association

Resumen: Introducción y objetivos: La asociación de corazones univentriculares con doble entrada y anomalía de Ebstein «like¼ de la válvula auriculoventricular común es extremadamente rara. Se describen 2 corazones con esta asociación. Métodos: Se utilizó el sistema secuencial segmentario que determina el situs auricular, los tipos y modos de conexión auriculoventricular y ventriculoarterial y las anomalías agregadas. Resultados: Ambos corazones presentaron situs solitus auricular, defecto septal auriculoventricular con foramen primum y doble entrada y doble salida con grandes arterias normalmente relacionadas en un ventrículo único. En el primero las 4 valvas auriculoventriculares estuvieron adosadas a la pared ventricular desde la unión auriculoventricular hasta el ápex con auricularización de la entrada y de la porción trabecular y presentó estenosis infundibular y valvular. En el segundo la porción proximal de la válvula auriculoventricular estuvo adosada a la pared ventricular con auricularización pequeña; en su porción distal mostró displasia con nodulaciones fibromixoides y cuerdas tendinosas pequeñas y gruesas y la arteria pulmonar estuvo dilatada. Conclusiones: Ambos corazones forman parte de la conexión auriculoventricular univentricular del sistema secuencial segmentario, cuya precisión diagnóstica muestra su eficacia. Las asociaciones de defectos congénitos en un solo corazón muestran el infinito espectro de las mismas, lo que expande nuestro conocimiento de la cardiología pediátrica.

Abstract: Introduction and objectives: The association of univentricular heart with double inlet and Ebstein's "like" anomaly of the common atrioventricular valve is extremely rare. Methods: Two hearts with this association are described with the segmental sequential system which determine the atrial situs, the types of atrioventricular and ventriculoarterial connections and associated anomalies. Results: Both hearts had atrial situs solitus, and a univentricular heart with common atrioventricular valve, a foramen primum and double outlet ventricle with normal crossed great arteries. In the fiefirst heart the four leaflets of the atrioventricular valve were displaced and fused to the ventricular walls, from the atrioventricular union roward the apex with atrialization of the inlet and trabecular zones and there was stenosis in the infundibulum and in the pulmonary valve. In the second heart the proximal segment of the atrioventricular valve was displaced and fused to the ventricular whith shot atrialization and the distal segment was dysplastic with fibromixoid nodules and tendinous cords short and thick; the pulmonary artery was dilate. Conclusions: Both hearts are grouped in the atrioventricular univentricular connection in the segmental sequential system. The application of this method in the diagnosis of congenital heart disease demonstrates its usefulness. The associations of complex anomalies in these hearts show us the infinite spectrum of presentation of congenital heart disease which expands our knowledge of pediatric cardiology.

No Synergic Effect of Sildenafil Administration on Exercise Capacity Improvement in a Fontan Patient with Regular Exercise Training.

In Fontan patients, reduced exercise capacity due to diminished cardiac output is a common finding with important prognostic implications. Beneficial effects have been shown for sildenafil treatment and regular exercise, but data comparing both strategies is scarce. We report on a female patient with Fontan circulation who underwent repeated cardiopulmonary exercise tests with either placebo or a single dose of 50mg sildenafil before and after 6months of supervised aerobic and resistance exercise. At baseline, V O2peak was 29.1ml/min/kg, and a marked increase to 32.8ml/min/kg was observed after administration of sildenafil. After the training period, V O2peak was 34.5ml/kg/min in the placebo test, and no further increase by sildenafil was possible (33.7ml/kg/min). Similar results were observed for exercise capacity at the ventilatory anaerobic threshold. In summary, this Fontan patient showed that regular exercise might use up and probably exceed the acute sildenafil effects on exercise capacity. Exercise should be considered as a primary treatment strategy within secondary prevention and rehabilitation after the Fontan procedure.

Clinical experience of the treatment in congenital heart disease single ventricle with extracardiac conduit fenestration-95 cases / 中国综合临床

Objective To sum the clinical experiences of the treatment in congenital heart disease single ventricle with extracardiac conduit (EC) fenestration.Methods Ninety-five patients diagnosed with univentricular heart disease underwent EC using Gore-Tax conduits at the Department of Children's Heart Center,Justus-Liebig-University Giessen Germany from June 1996 to July 2010.According to EC with or without fenestration,the patients were divided into two groups.Seventy-one routine fenestration of the extracardiac conduit (the fenestration group),58 patients (58/71) of children with high-risk preoperative intraoperative fenestration,13 cases (13/71) were due to low cardiac Rankinginterventional fenestration; extracardiac conduit fenestration (non-windowed group) did not undergo surgery in 24 patients (24/95).Results The fenestration had no death; Three died in non-windowed group.Postoperative effusions and postoperative mean pulmonary artery pressure in group without fenestration ((14.2 ± 2.3) d and (15.1 ± 3.4) mm Hg respectively) were significantly higher than group with fenestration ((10 ± 3.2) d and (13.2 ± 2.8) mm Hg respectively).It had significant differences(P =0.016).In the group with fenestration and without fenestration,postoperative oxygen saturation((90.3 ±4.0)％,(91.7 ±5.2)％),postoperative thrombosis (11.3％ (8/71),12.5％ (3/24)),and postoperative neurological problems (18.3％ (13/71),20.8％ (5/24)) did not differ between cohorts.Conclusion It is effective and safe to treat congenital heart disease single ventricle with EC.EC with fenestration can improve acute postoperative mortality by rising cardiac output,thereby can reduce early postoperative mortality.

The Recent Surgical Result of Total Anomalous Pulmonary Venous Return

BACKGROUND AND OBJECTIVES: Recent surgical results from total anomalous pulmonary venous return (TAPVR) are reported to have improved; however, mortality and morbidity are still high in the univentricles. This review was performed in order to demonstrate surgical results from TAPVR for recent years in a single institute. SUBJECTS AND METHODS: A total of 53 patients with TAPVR underwent surgery between January 2000 and December 2008. Preoperative anatomy and hemodynamics were evaluated by 2-dimensional echocardiogram. We reviewed medical records on preoperative management, age, and body weight at time of surgery, postoperative mortality, and pulmonary venous obstruction. RESULTS: The study included 36 biventricle patients and 17 univentricle patients. Median age and weight at time of surgery were 26 days and 3.5 kg, respectively. During the mean follow up period of 48.2 months, a total of 11 deaths and 8 early deaths occurred. Postoperative pulmonary venous stenosis occurred in 8 patients. Among 36 biventricle patients, mortality occurred in 1 patient and postoperative pulmonary venous stenosis occurred in 6 patients. No statistical significances were observed between postoperative pulmonary venous stenosis and other factors. Among 17 univentricule patients, mortality was 10, including 7 early deaths, and postoperative pulmonary venous stenosis occurred in 2 patients. Combined palliations were modified Blalock-Taussig (BT) shunts in 7, pulmonary artery banding (PAB) in 3, bidirectional cavopulmonary shunt in 5, and the Fontan procedure in 1. The highest mortality was recorded in patients with a modified BT shunt (85.7%) and next in patients with PAB (66.6%). Mortality was not related to anatomy of TAPVR, nor preoperative obstruction, but with significant age and weight at time of surgery. CONCLUSION: Despite improvement in operative results from TAPVR, surgery in univentricles is highly risky, especially with low weight and early age, with concomitant palliation.

Atividade autonômica em uma adolescente com ventrículo único submetida à intervenção fisioterapêutica: relato de caso / Autonomic activity in an adolescent with a single ventricle who underwent physical therapy intervention: case report

OBJETIVO: Avaliar a atividade autonômica de uma adolescente com ventrículo único (VU), sem correção cirúrgica, participante de um programa de fisioterapia. MATERIAIS E MÉTODOS: Paciente do sexo feminino, 14 anos, com diagnóstico de VU tipo esquerdo, sem correção cirúrgica. A atividade autonômica foi avaliada pela variabilidade da freqüência cardíaca (VFC) nas posições supina e sentada, e pela manobra para acentuar a arritmia sinusal respiratória (M-ASR) no início do primeiro (A1), segundo (A2) e terceiro anos (A3) de tratamento fisioterapêutico cardiovascular (TFC) ambulatorial. Os intervalos RR e a freqüência cardíaca batimento a batimento foram calculados e armazenados para posterior análise. A VFC foi avaliada pelos índices RMSSD e RMSM e no domínio da freqüência pelas bandas de alta e baixa freqüência em unidades normalizadas (AFun e BFun, respectivamente) e pela razão BF/AF. O TFC constou de exercícios respiratórios associados a exercícios ativos e resistidos gerais, durante dois anos. RESULTADOS: De A1 para A3, o RMSM reduziu (14,5 por cento), a banda de BFun (42,2 por cento) e a razão BF/AF aumentou (117,0 por cento), e a banda AFun diminuiu (35,2 por cento). Em todas as situações, a banda BFun foi maior e a AFun foi menor na posição sentada. Além disso, a resposta parassimpática à M-ASR aumentou da situação A1 para A3 em 7,4 e 47,3 por cento, respectivamente. CONCLUSÕES: Concluímos que, na paciente estudada, a redução da VFC parece estar associada com o avanço da doença, porém, não houve prejuízos frente à mudança postural. Adicionalmente, o TFC proposto incrementou a resposta parassimpática durante a M-ASR.

OBJECTIVE: To evaluate the autonomic activity of an adolescent with a single ventricle without surgical correction who participated in a physical therapy program. METHODS: This was a 14-year-old female patient with a left-type single ventricle who had not undergone any surgical intervention. The autonomic activity was evaluated according to the heart rate variability in the supine and seated positions and by means of the respiratory sinus arrhythmia accentuation maneuver (RSA-M) in the beginning of the first, second and third years of outpatient cardiovascular physical therapy treatment. The RR intervals and beat-to-beat heart rate were calculated and stored for subsequent analysis. The heart rate variability was evaluated by means of the RMSSD and RMSM indexes and in the frequency domain with high and low frequency bands in normalized units (HFnu and LFnu, respectively) and using the LF/HF ratio. The cardiovascular physical therapy consisted of respiratory exercises associated with active and general resistance exercises, for two years. RESULTS: From the first to the third year, the RMSM decreased (14.5 percent), LFnu band increased (42.2 percent), LF/HF ratio increased (117.0 percent) and HFnu decreased (35.2 percent). In all of the situations, the LFnu band was higher and HFnu was lower in the seated position. Additionally, the parasympathetic response to RSA-M increased from the first to the third years in 7.4 percent and 47.3 percent, respectively. CONCLUSIONS: We concluded that, for the patient studied, the reduction in heart rate variability seemed to be associated with the advance of the disease. Nevertheless, there was no damages related to postural change. In addition, the cardiovascular physical therapy proposed increased the parasympathetic response during RSA-M.

A Trend for Atrioventricular Valve Regurgitation after a Modified Fontan Operation / 대한흉부외과학회지

BACKGROUND: Anatomic and functional abnormalities of the systemic atrioventricular (AV) valve are common in single ventricle pathologies and continue to be associated with poor early and late outcomes in surgically palliated single ventricle patients. We aggressively performed valvuloplasty for atrioventricular valve regurgitation (AVVR) during the course toward a Fontan operation. MATERIAL AND METHOD: Between January 1995 and December 2004, 209 patients underwent a Fontan operation in our institution. We retrospectively evaluated the prevalence of AVVR and the influence of AV valve repair on outcome, and we analyzed the progression of AVVR after the Fontan operation for 168 patients where echocardiographic follow up results for more than 6 months after the Fontan operation were available. During the course toward a Fontan operation, 25 patients underwent 30 procedures for AVVR. These procedures were carried out during placement of a bidirectional cavopulmonary shunt (BCPS) for nine patients, between the time of placement of a BCPS and the Fontan operation for four patients, and during the Fontan operation for 17 patients. Five patients underwent procedures for AVVR twice. RESULT: The late mortality rate after the Fontan operation was 4.2% (n=7), with a median follow-up duration of 52 months (range, 6~123 months). Seven patients (4%) had unfavorable outcomes such as significant (moderate or severe) AVVR in six patients, and significant AV valve stenosis in one patient was determined at the last follow up after the Fontan operation. Among the seven patients, four patients underwent AV valve repair after the Fontan operation, and one patient underwent subsequent AV valve replacement. Progression to AVVR of equal to or greater than grade 2 was noted in 30 patients (18%) at the last follow up after the Fontan operation, including 12 patients that underwent previous AV valve procedures. Initial grading of AVVR, a previous AV valve operation, and specific AV valve morphology such as a common AV valve or mitral atresia were significant risk factors for the progression of AVVR after the Fontan operation. CONCLUSION: In our surgical series, a small percentage of patients showed unfavorable outcomes related to AVVR during the course toward a Fontan operation. However, a closer follow-up is required to evaluate the progression of the AVVR after a Fontan operation, especially for patients showing poor AV valve function at the first presentation and specific AV valve morphology.

Fontan Procedure for Functional Single Ventricle with Major Aortopulmonary Collateral Arteries / 대한흉부외과학회지

Not only morphology of pulmonary artery or pulmonary artery resistance, but major aortopulmonary collateral arteries are risk factors of Fontan procedure. We report a successful Fontan procedure after rehabilitation of pulmonary arteries by unifocalization and systemic to pulmonary shunt in a high risk Fontan candidate with functional single ventricle combined with hypoplastic pulmonary arteries and major aortopulmonary collateral arteries supplying most of the bilateral lung field.

Usefulness and Surgical Strategies of Pulmonary Artery Banding in Functional Univentricular Heart / 대한흉부외과학회지

BACKGROUND: Pulmonary artery banding (PAB)in the functional univentricular heart (UVH)is a palliative procedure for staging toward the Fontan procedure;however,it is known to be a risk factor. MATERIALS AND METHOD: The records of all 37 patients with functional UVHs who underwent surgical palliation using PAB between September 1989 and August 1999 were reviewed retrospectively.We investigated the aortic arch obstruction,the development and progression of subaortic stenosis after PAB,and risk factor of mortality according to surgical method. RESULT: In 37 neonates and infants with single ventricular physiology,aortic arch obstruction was combined in 7.There were 6 early deaths (16.2%)after PAB and 3 late deaths (8.1%)after Fontan operation.The actuarial overall survival including early mortality at 3 and 5 years were 8 0 .7+/-6.6%,72.2 +/-8.2% respectively. Among 31 patients who survived PAB,27 patients (87.1%)could become candidates for Fontan operation;22 patients(71.0%)completed Fontan operation with 3 deaths and 5 were waiting bidirectional cavopulmonary shunt(BCPS)or Fontan operation (follow-up mean 4.5 year,minimal 2 year). Subaortic stenosis developed in 8 patients after PAB (8/29,27.6%);3 cases in the patients without arch anomaly (3/22,13.6%)and 5 in those with arch anomal y (5/7,71.4%).The subaortic stenosis was managed with Damus-Kaye-Stansel procedure (DKS)in 6 patients without operative mortality and conal septum resection in 2 without long-term survivor. Analysis of risk factors established that aortic arch obstruction was strongly associated with subaortic stenosis (p<0.001).The only risk factor of late mortality was Fontan procedure without staged palliation by BCPS (p=0.001). CONCLUSION: PAB is effective as an initial palliative step in functional UVH.And the high risk group of patients with aortic obstruction can undergo effective short-term PAB as an initial palliative step,with subsequent DKS for subaortic stenosis.This strategy,initial PAB and careful surveillance,and early relief of subaortic stenosis can maintain acceptable anatomy and hemodynamics for later Fontan procedures.

Univentricular Heart: Natural Survival into the Second Decade of Life

Univentricular heart, or single ventricle, is characterized by the entire flow from the two atria being carried directly through the left and right AV valves into the single ventricular chamber. According to the morphologic structure of the ventricle, univentricular heart is classified as left ventricular type, right ventricular type and rarely intermediate type. Natural survival depends primarily on factors that limit pulmonary blood flow, such as an increase in pulmonary vascular resistance or the presence of pulmonic stenosis. Other variables of survival include the morphologic type of single ventricle, the great artery anatomy and the adequacy of the atrioventricular connection. To our knowledge, this is first report in our country of a patient with single ventricle of left ventricular morphology who naturally survived into the second decade of life.

A Case of Dandy-Walker Syndrome with Complex Cardiac Anomaly

The Dandy-Walker syndrome is a developmental disorder of the brain characterized by cystic dilatation of the fourth ventricle and agenesis or hypoplasia of the cerebellar vermis. We experinced a case of Dandy-Walker syndrome with complex cardiac anomaly in female newborn who presented with apnea at birth. Physical examination showed coloboma on left eye, low estting malformed ear, and high arched palate. Autopsy revealed cystic dilatation of the fourth ventricle with secondary loss of cerebellar vermis. The floor of the fourth ventricle is exposed through this defect. Heart showed aortic atresia and univentricular heart. The case is reported with the review of the literatures.