Complete Atrioventricular Septal Defect and Pulmonary Stenosis Diagnosed in a 49-Year-Old Woman after 10 Uneventful Births

Atrioventricular septal defects constitute 4% of all congenital cardiac malformations. Patients with complete atrioventricular septal defect rarely survive for decades without surgical treatment. Pulmonary stenosis can provide a delicate balance between the pulmonary and systemic circulations and thereby increase longevity. We present the case of a 49-year-old woman whose complete atrioventricular septal defect and associated pulmonary stenosis were diagnosed only after she had given birth to 10 live children through uneventful spontaneous delivery. We discuss her successful surgical treatment in terms of the available medical literature.     

Outcome of pregnancy in women with congenital shunt lesions

OBJECTIVE: To evaluate the outcome of pregnancy in women with congenital shunt lesions. SETTING: Retrospective study in a tertiary care centre. METHODS: Pregnancy history was obtained by a standardised questionnaire and medical records were reviewed. PATIENTS: 175 women were identified, at a mean (SD) age of 42 (14) years. Pregnancies occurred in 126 women: 50 with an atrial septal defect, 22 with a ventricular septal defect, 22 with an atrioventricular septal defect, 19 with tetralogy of Fallot, and 13 with other complex shunt lesions. RESULTS: 309 pregnancies were reported by 126 woman (2.5 (1.6) pregnancies per woman). The shortening fraction of the systemic ventricle was 40 (8)%, and 98% were in New York Heart Association class I-II at last follow up. Spontaneous abortions occurred in 17% of pregnancies (abortion rate, 0.4 (0.9) per woman). Gestational age of the 241 newborn infants was 8.8 (0.8) months. There were no maternal deaths related to pregnancy. Pre-eclampsia and embolic events were observed in 1.3% and 0.6%, respectively of all pregnancies. Women with complex shunt lesions more often underwent caesarean section (70% v 15-30%, p = 0.005) and gave birth to smaller babies for equivalent gestation (2577 (671) g v 3016 (572) to 3207 (610) g, p < 0.05). The recurrence risk of congenital heart disease was 2.5%. CONCLUSIONS: The outcome of pregnancy is favourable in women with congenital shunt lesions if their functional class and their systolic ventricular function are good. Such patients can be reassured.     

Cor Triatriatum Dexter and Atrial Septal Defect in a 43-Year-Old Woman

Cor triatriatum dexter is a rare congenital heart anomaly in which a membrane divides the right atrium into 2 chambers. We report the case of a 43-year-old woman who had cor triatriatum dexter and a large atrial septal defect. During attempted percutaneous closure, the balloon disrupted the membrane and revealed that the defect had no inferior rim, precluding secure placement of an Amplatzer Septal Occluder. Surgical treatment subsequently proved to be successful.In patients with an incomplete membrane and a septal defect with well-defined rims, percutaneous treatment can be the first choice. In patients who have cor triatriatum dexter and unfavorable anatomic features or concomitant complex heart anomalies, open-heart surgery remains the gold standard for treatment.     

Down syndrome and congenital heart disease: why the regional difference as observed in the Libyan experience?

Background

Children with Down syndrome (DS) have about a 40 to 50% incidence of congenital heart disease (CHD). The objectives of this study were to evaluate the distribution and frequency of CHD patterns in Libyan children with DS.

Methods

All patients with DS who were referred to the cardiology clinic between January 1995 and December 2008 were reviewed.

Results

Of the 1 193 patients reviewed, 537 (45%) had an associated CHD. Overall there were 349 (65%) patients who had a single cardiac lesion, and 188 (35%) had multiple cardiac lesions. The most common isolated cardiac lesion was atrial septal defect (ASD), found in 125 (23%) patients, followed by atrioventricular septal defect (AVSD) in 103 (19%), and ventricular septal defect (VSD) in 76 (14%).

Conclusion

Atrial septal defect was the most common cardiac lesion. The distribution of CHDs in Libyan children with DS was similar to what has been reported internationally, but the frequency was not compared with international rates.     

Microvascular Permeability Changes Might Explain Cardiac Tamponade after Alcohol Septal Ablation for Hypertrophic Cardiomyopathy

Various sequelae of alcohol septal ablation for hypertrophic obstructive cardiomyopathy have been reported. Of note, some cases of cardiac tamponade after alcohol septal ablation cannot be well explained. We describe the case of a 78-year-old woman with hypertrophic obstructive cardiomyopathy in whom cardiac tamponade developed one hour after alcohol septal ablation, probably unrelated to mechanical trauma. At that time, we noted a substantial difference in the red blood cell-to-white blood cell ratio between the pericardial effusion (1,957.4) and the peripheral blood (728.3). In addition to presenting the patient''s case, we speculate that a possible mechanism for acute tamponade—alcohol-induced changes in microvascular permeability—is a reasonable explanation for cases of alcohol septal ablation that are complicated by otherwise-unexplainable massive pericardial effusions.     

Interventricular muscular defect in the atrioventricular canal

The muscular ventricular septal defect associated with the atrioventricular canal is a malformation which has not yet been extensively studied. Between June 1982 and December 1989, 151 patients with atrioventricular canal underwent echocardiography and angiocardiography in our Department. Of these 95 (62.9%) had a complete form and 56 (37.1%) a partial. Among the 151 patients, 81 (53.6%) presented Down syndrome. We found 5 muscular ventricular septal defects in 4 patients; in 3 cases there was a single defect and in one case two defects. These defects were midmuscular in all patients and one patient also presented an apical defect. All 4 patients with muscular ventricular septal defect presented a complete atrioventricular canal and aortic coarctation; 3 out of 4 patients had a hypoplastic left ventricle with absence of Down syndrome. The muscular ventricular septal defect is a malformation which is rarely associated with atrioventricular canal (4/151 = 2.6%). In our experience, it was always associated with a complete form with aortic coarctation and was very rare in Down syndrome patients (1/81 = 1.2%). These findings may represent a peculiar association of anomalies which may be caused by fetal hemodynamic mechanisms.     

Two Cases of Apical Ballooning Syndrome Masking Apical Hypertrophic Cardiomyopathy

Apical akinesis and dilation in the absence of obstructive coronary artery disease is a typical feature of stress-induced (takotsubo) cardiomyopathy, whereas apical hypertrophy is seen in apical-variant hypertrophic cardiomyopathy. We report the cases of 2 patients who presented with takotsubo cardiomyopathy and were subsequently found to have apical-variant hypertrophic cardiomyopathy, after the apical ballooning from the takotsubo cardiomyopathy had resolved. The first patient, a 43-year-old woman with a history of alcohol abuse, presented with shortness of breath, electrocardiographic and echocardiographic features consistent with takotsubo cardiomyopathy, and no significant coronary artery disease. An echocardiogram 2 weeks later revealed a normal left ventricular ejection fraction and newly apparent apical hypertrophy. The 2nd patient, a 70-year-old woman with pancreatitis, presented with chest pain, apical akinesis, and a left ventricular ejection fraction of 0.39, consistent with takotsubo cardiomyopathy. One month later, her left ventricular ejection fraction was normal; however, hypertrophy of the left ventricular apex was newly noted. To our knowledge, these are the first reported cases in which apical-variant hypertrophic cardiomyopathy was masked by apical ballooning from stress-induced cardiomyopathy.     

An unusual case of cyanotic heart disease in a patient with patent foramen ovale and right ventricular hypertrophy

An unusual case of cyanosis and patent foramen ovale/atrial septal defect with right-sided septal hypertrophy is presented. Mild right ventricular dysfunction led to predominant right-to-left shunting. The atrial defect was surgically closed. The patient is from a family with hypertrophic cardio-myopathy;she is negative for the gene abnormality.     

肺静脉内膜剥脱术治疗小儿先天性肺静脉狭窄

目的 分析先天性肺静脉狭窄患儿的临床特点,探讨肺静脉内膜剥脱术治疗小儿先天性肺静脉狭窄的疗效.方法 回顾性分析2008年1月至2009年12月收治的4例先天性肺静脉狭窄患儿的临床资料,其中男3例,女1例,年龄2个月～2岁11个月.均行胸片、心电图和超声心动图检查,其中2例行心脏多排计算机断层扫描检查,以期明确诊断.4例患者共有7支肺静脉狭窄,右上肺静脉3例,右下肺静脉1例,左上肺静脉1例,左下肺静脉2例.狭窄部位均在肺静脉开口处,均合并其他心血管畸形：室间隔缺损3例,房间隔缺损1例,动脉导管未闭2例,主动脉缩窄1例,术前均提示重度肺动脉高压.术前根据病情予强心、利尿、扩血管及抗感染等治疗.完善术前准备后在全身麻醉、胸骨正中切口、深低温、体外循环下行肺静脉内膜剥脱术.结果 术后患儿血流动力学稳定;机械通气时间3.7（2～4）d,重症监护时间4.2（3～5）d;围术期无一例死亡.随访18～26个月,患儿均存活,心功能（纽约心脏协会）Ⅰ级3例、Ⅱ级1例,生长发育均正常.结论 先天性肺静脉狭窄常合并各种心内畸形,超声心动图、心脏多排计算机断层扫描检查对诊断帮助较大.肺静脉内膜剥脱术治疗先天性肺静脉狭窄患儿安全、有效,手术成功率高,近期随访疗效较好,对于婴幼儿先天性肺静脉狭窄不失为一种治疗选择.     

双峰T波与先天性心脏病

目的探讨先天性心脏病及正常人群组双峰T波的检出率差异性,年龄和性别对双峰T波检出率的影响。方法回顾性分析明确诊断为先天性心脏病例675例和680例健康者（对照组）的平静心电图,分析双峰T波在先天性心脏病中的检出率和在室间隔缺损（VSD）、房室间隔缺损（AVSD）、房间隔缺损（ASD）和法洛四联症（F4）患者中的检出率。结果①与对照组比较,先天性心脏病中出现双峰T波患者401例（检出率59.4%,p〈0.05）,其中,双峰T波在ASD中检出率42.1%,在VSD中检出率70.6%,AVSD双峰T波出现38例（82.2%）,在F4中出现率42.3%;检出圆顶尖角T波及尖角T波169例（检出率26.0%）;②随着年龄增长,先心病组及正常人群组双峰T波检出率降低;③正常人群组双峰T波检出率男性15岁左右开始逐渐下降,女性20-30岁检出率达高峰。结论双峰T波在先天性心脏病患者中检出率高于正常人;双峰T波受年龄的影响,正常人群还受性别的影响。     

1:1 atrioventricular conduction in congenital complete heart block

A female neonate with congenital complete heart block developed atrioventricular conduction through an accessory pathway. Despite sinus rhythm and an adequate heart rate she developed severe dilated cardiomyopathy and died at age 14 months. This case illustrates that underlying heart block can be present in individuals with asymptomatic Wolff-Parkinson-White syndrome and that the dilated cardiomyopathy that occasionally accompanies autoimmune congenital heart block is not primarily caused by bradycardia.

Keywords: congenital heart disease; complete heart block; atrioventricular conduction; Wolff-Parkinson-White syndrome     

先天性心脏病介入治疗17例并发症的原因及处理

目的 分析先天性心脏病(先心病)介入封堵治疗中和治疗后并发症的发生率、原因及防治措施.方法 自2008年3月至2012年3月,上海远大心胸医院共有1077例先心病患者进行了介入治疗,对介入治疗中和治疗后发生的17例并发症患者作回顾性分析.结果 1077例先心病患者介入术中及术后并发症总发生率为1.58％ (17/1077),无死亡病例.房间隔缺损(ASD)组共3例出现并发症,占了ASD组的0.99％( 3/303);动脉导管未闭(PDA)组共3例出现并发症占了PDA组的0.97％ (3/310);室间隔缺损组(VSD)组共11例出现并发症,占了VSD组的2.61％( 11/421),肺动脉瓣球囊成形术( PBPV)组未见并发症,并发症均经保守治疗或介入处理.结论 先心病介入封堵术是一种微创而有效的治疗措施,但其并发症不容忽视,尤以VSD封堵术发生率最高.先心病介入治疗的并发症及病死率低,术前应进行充分沟通,术后应作严格随访,尤其警惕部分介入治疗术后迟发并发症的发生.     

Spread of heart diseases seen in an open-access paediatric echocardiography clinic

All patients <13 years of age referred to the open-access paediatric echocardiography clinic at the Sultan Qaboos University Hospital, Muscat, Oman, during the five years from 1994 to 1998 were analysed. Among the 2633 patients studied, 1543 (58.6%) were normal, 845 (32.1%) had congenital heart disease, and 245 (9.3%) had acquired heart disease. The major congenital heart diseases identified were secundum atrial septal defect (22.5%), ventricular septal defect (22.5%), patent ductus arteriosus (15.7%), mitral valve prolapse (10.7%), pulmonary stenosis (9.7%) and atrioventricular septal defect (4.5%). Fifty-eight percent of the congenital heart diseases were identified in the first year of life. Among the acquired heart diseases, rheumatic heart disease (30.2%) and cardiac involvement secondary to haemoglobinopathies (16.7%), dilated cardiomyopathy (16.3%) and hypertrophic cardiomyopathy (12.7%) were significant. Although the presence of specific cardiac symptoms was associated with a high yield of abnormalities, such disorders were also discovered in a significant number of children with isolated cardiac murmur. The referral source did not influence significantly the frequency of heart diseases diagnosed in this study. Open-access echocardiography is important in early detection of heart disease in the paediatric population.     

Complete Atrioventricular Septal Defect with Truncus Arteriosus and Interrupted Aortic Arch in the Fetus

Complete atrioventricular septal defect is generally diagnosed on the four‐chamber view of the fetal heart. This defect can be accompanied by additional outflow tract lesions, including truncus arteriosus. Although truncus arteriosus in isolation can be associated with interrupted aortic arch, we describe a fetal case with the rare association of all three diagnoses: complete atrioventricular septal defect with truncus arteriosus and interrupted aortic arch. This case points to the importance of evaluating the complete fetal heart even after one congenital cardiac abnormality is noted. The complexity of heart disease has implications for prenatal counseling and postnatal management.     

Congenital heart disease in Down's syndrome patients: a decade of surgical experience

Patients with Down's syndrome represent a significant subset of patients with congenital heart disease. Fifty-five patients with Down's syndrome have undergone surgical treatment for congenital heart disease at our institution in the past decade. Twenty-six had atrioventricular canal, 11 had ventricular septal defect, 7 had secundum atrial septal defect, 7 had tetralogy of Fallot, 3 had primum atrial septal defect and 1 patient had double outlet right ventricle. The thirty day mortality following operative intervention was 16.4%. Mortality was highest for tetralogy of Fallot followed by atrioventricular canal and ventricular septal defect. Long term mortality for all lesions was 27.3% over our follow-up period which averaged 33 months. Thirty day mortality compared similarly to previous reports of surgically treated Down's syndrome patients. When compared to our patients without Down's syndrome, the Down's population did not exhibit an increased risk for surgical treatment of congenital heart disease.     

Prenatal diagnosis of mobile flap-like tissue on the ventricular septal defect in a newborn with trisomy 18

Trisomy 18 is the second most common autosomal trisomy in liveborn infants. Various congenital malformations, mental retardation, and high rate of infant mortality in the first year of life are characteristic features of trisomy 18. Congenital heart disease occurs in over 90% of these patients and the most common cardiac lesions are ventricular septal defect, patent ductus arteriosus and atrial septal defect. This is a case report of a baby born with trisomy 18 (postnatal diagnosis) in whom there was an unusual echocardiographic appearance of a mobile structure ("flap-like") around the area of a VSD-which was imaged prenatally.     

Adults with Down Syndrome: Safety and Long-term Outcome of Cardiac Operation

Objective. As limited data exist, we sought to review the safety and outcome of cardiac surgery in the adult Down syndrome population. Design. We reviewed the data of all patients ≥18 years old with Down syndrome who underwent cardiac surgery (1969–2008) at our hospital. Results. Fifty patients underwent 57 surgeries (mean age 33 years). Fifteen patients had prior cardiac operations in childhood: 7 complete and 1 partial atrioventricular canal, 2 secundum atrial septal defect, 2 Tetralogy of Fallot, 1 patent ductus arteriosus, 1 combined atrioventricular canal and Tetralogy of Fallot, and 1 ventricular septal defect. Operations in adult Down syndrome patients included repair of partial atrioventricular canal in 17, aortic valve replacement in 7, mitral valve replacement/repair in 7, ventricular septal defect in 6, atrial septal defect in 3, Tetralogy of Fallot in 3, pulmonary valve replacement in 3, and other in 11. There was 1 in-hospital death (1.8%) from multiorgan failure. The mean hospital stay was 10.6 days. Average ventilatory support was 2.4 days (range 0–32). Atrial arrhythmias occurred in 14 patients (25%). Six patients had early postoperative pulmonary infections. Mean follow-up was 6 years, maximum 29 years. There were eight late deaths at an average age of 52 years (range 30–58) occurring 15 years postoperatively (range 32 days–29 years); two in the setting of dementia (mean age 56 years). Conclusion. At an experienced center, adult patients with Down syndrome can undergo cardiac surgery with a low risk of mortality and acceptable morbidity. Atrial arrhythmias and pulmonary infections are common postoperatively.     

Magnetic resonance imaging of complex congenital heart disease

Current MR techniques enable both anatomical and functional evaluations of the heart. Although it is rarely used as a primary diagnostic tool in pediatric cardiology, it can be used as a valuable adjunct to echocardiography and angiography. MRI is particularly useful in clarification of morphology of complex congenital heart diseases. It is the most accurate method of determination of visceral and atrial situs. It is easy to evaluate the systemic and pulmonary venous connections that are very important for the Fontan type of operation, especially in patients with visceral heterotaxy. It facilitates demonstration of diminutive pulmonary arteries in patients with pulmonary atresia. It clearly demonstrates juxtaposition of the atrial appendages that is often missed by echocardiography. The anatomy of the twisted atrioventricular connections is much more clear in MRI than in echocardiography. It enables en face imaging of ventricular septal defect that provides a surgical view. We find en face imaging particularly helpful in patients with double inlet left ventricle and transposition of the great arteries where the size of the ventricular septal defect governs the blood flow into the aorta. It is often advantageous to echocardiography in defining the type of univentricular atrioventricular connections by demonstrating the position and topology of the rudimentary chamber in difficult cases. In double outlet right ventricle, the spatial relationship of the ventricular septal defect to the great arterial valves can be clearly defined by visualizing the ventricular septal defect and the outlet septum in the same imaging plane.     

Unusual association of hypertrophic cardiomyopathy with complete atrioventricular canal defect and Down syndrome

Hypertrophic cardiomyopathy typically presents as an isolated cardiac lesion. Transient hypertrophic cardiomyopathy in infancy has been described as a result of exposure to maternal metabolic disorders or to corticosteroids. In addition, hypertrophic cardiomyopathy has been described in association with genetic syndromes and, in rare cases, as a primary lesion associated with other congenital heart defects. We describe the unusual association of hypertrophic cardiomyopathy and complete atrioventricular canal defect in an infant with trisomy 21.