An unrecognized combined congenital heart defect – Bicuspid aortic valve and ventricular septal defect as a cause of acute heart failure in adulthood

Bicuspid aortic valve is the most frequent congenital heart malformation in adulthood with incidence between 0.5 and 2%. Moreover, bicuspid aortic valve could be connected with other congenital heart defects and malformations of the aortic arch and ventricular septal defects, which is the second most frequent congenital heart malformation. Its incidence in childhood is about 25–40%, and in adulthood, the incidence is lower, about 20% of all congenital heart defects. Bicuspid aortic valve is the most frequent cause of aortic stenosis and aortic insufficiency at an early age. The heart malformations are mostly diagnosed at an early age and corrected surgically, if hemodynamically severe. However, in some cases, congenital heart defects may be missed and are only detected in adulthood. We report on a case of 51-year-old man with an unrecognized combined congenital heart defect: bicuspid aortic valve (with severe aortic insufficiency), a serious defect of ventricular septum (with pulmonary hypertension) and severe tricuspid valve insufficiency, presenting as an acute heart failure.     

Acute myocardial infarction following scrub typhus infection

A case report is described of a patient with cerebral palsy and Meckel's diverticulum presenting with congenital atrioventricular (AV) block. There is limited information of congenital heart block in adults, because most literature has been devoted to congenital heart block in childhood. This unique case is discussed with other patient groups' with congenital AV block. Long-term follow-up of congenital heart block is reviewed together with the concept of prophylactic pacemaker placement in symptom-free adults.     

22q11微缺失综合征与先天性心脏病的关系

目的 探讨22q11微缺失综合征与先天性心脏病的关系.方法 应用荧光原位杂交(FISH) 技术,对207例不同表型的临床疑似患者的外周血标本进行22q11微缺失的检测.分析22q11微缺失综合征患者的超声心动图特征,并对部分复杂先天性心脏病患者行心导管检查.结果 共确诊22q11微缺失综合征患者39例.22q11微缺失综合征的患病率在非综合征性先天性心脏病患者中为1.6%,在综合征性先天性心脏病患者中为53.0%,在无先天性心脏病的疑似患者中则为3.8%.先天性心脏病在22q11微缺失综合征和非22q11微缺失综合征患者中的比例分别为94.9%和54.2%(P＜0.01),综合征性先天性心脏病在22q11微缺失综合征和非22q11微缺失综合征患者中的比例分别为89.7%和18.5%(P＜0.01).在22q11微缺失综合征患者中,先天性心脏病以法洛四联征最多见,心外异常则以面容异常、学习困难和生长发育落后多见.结论 22q11微缺失综合征与先天性心脏病有关.

Abstract：

Objective To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease. Methods Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization. Results 22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease.The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2%(P<0.01). The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5%(P＜0.01).In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients. Conclusion 22q11 microdeletion syndrome is related to congenital heart disease.     

Changing lesion demographics of the adult with congenital heart disease: an emerging population with complex needs

The demography of congenital heart disease is changing. Largely as a consequence of successful cardiac surgery in childhood, there are an increasing number of adults with congenital heart disease with a prevalence of more than four per 100 adults. The type of disease in adults is also changing with an increasing number of survivors with complex disease. These patients have a significantly increased healthcare requirement in comparison to healthy adults and this includes noncardiac, multisystem morbidity. The adult congenital heart disease population are now developing problems associated with aging and there is a new population of geriatrics with congenital heart disease. As survival continues to improve, increased healthcare resources need to be directed towards the management of the adult with congenital heart disease.     

Abnormal endothelial factor VIII associated with pulmonary hypertension and congenital heart defects

In patients with pulmonary hypertension associated with congenital heart defects, ultrastructural abnormalities are observed in endothelial cells, which suggest heightened metabolic function. If endothelial production of the von Willebrand factor (vWF) is increased, this may be associated with abnormal interactions with platelets leading to worsening of the pulmonary hypertension. We therefore evaluated vWF in 30 patients with pulmonary hypertension (25 with congenital heart defects) and in 30 individuals with normal pulmonary arterial pressure (12 with congenital heart defects). We measured the antigenic (vWF: Ag) and biologic (VWF: rist) activity of vWF in plasma and assessed endothelial vWF: Ag directly by an immunoperoxidase stain applied to lung biopsy tissue. Because of considerable variance and small size, the group of five patients with pulmonary hypertension and without congenital heart defects were excluded from statistical analyses. Patients with pulmonary hypertension and congenital heart defects had significant higher vWF: Ag levels than individuals with normal pulmonary arterial pressure without congenital heart defects (p less than .05), whereas values in those with normal pressure and congenital heart defects were intermediate. In lung biopsy tissue available from 29 patients in this study and from 11 others we previously reported, immunostain of pulmonary arterial endothelium for vWF was intense (suggesting increased production) in 29 of 32 with pulmonary hypertension and congenital heart defects and in only one of eight with normal pulmonary arterial pressure and congenital heart defects (p less than .01). Only three patients with congenital heart defects and pulmonary hypertension and increased vWF: Ag, however, had increased vWF: rist. Compatible with this discrepancy was a loss of vWF high-molecular weight forms as determined by both crossed immunoelectrophoresis and multimeric analysis. Our results suggest that increased vWF in most patients with congenital heart defects and pulmonary hypertension is associated with increased production of a biologically deficient molecule lacking high-molecular weight forms.     

Etiologic correlates in a study of congenital heart disease in 56,109 births

From a prospective study of 56,109 total births some incidence factors and etiologic correlates for congenital heart disease have been identified. The risk of congenital heart disease in infants with Down's syndrome was found to be 1:3, for the offspring of mothers with congenital heart disease 1:20, for the offspring of diabetic mothers 1:39, and for twin infants 1:61. Data from the offspring of mothers with congenital heart disease and from offspring who are twins or siblings of twins suggest that there may be a relatively large element of inheritance in the etiology of pulmonary stenosis. The risk of a great vessel abnormality for offspring of diabetic mothers is reaffirmed. The role of maternal age in the production of congenital heart disease in the offspring is assessed, and several correlates of transposition of the great vessels are identified. Preliminary data are presented on the association of maternal viral infection with congenital heart disease in the offspring.     

Angeborene Herzfehler im Erwachsenenalter

There is a increasing clinical and scientific interest in adults with congenital heart disease. Germany is among, if not the first country worldwide, with a structured care of adults with congenital heart disease. Due to the advances in cardiology and in heart surgery, the primarily high mortality rate of relevant congenital heart disease has declined from 80% to less than 20% during the recent decades. Currently, in Europe the estimated number of adults with congenital heart disease is between 1,2 and 2,7 Mio., and the number in Germany exceeds 180.000. Almost all congenital heart defects, either native or interventionally or surgically treated, need regular control, since even after successful primary treatment significant residua or sequels have to be expected. Optimal care of these patients begins in the childhood and must be continued down to the high adulthood. The complexity of congenital heart defects makes a multidisciplinary approach necessary. A specialized, interdisciplinary cooperation between cardiologists, pediatric cardiologists, cardiac surgeons and other specialists is mandatory.     

Diagnosis and management of congenital heart disease in the adult

Currently, there are 1 million people in the United States over the age of 20 with congenital heart disease. These adult congenital heart patients can "slip through the cracks of our medical system" and many are too old to be cared for in most pediatric institutions by pediatric cardiologists, and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to understand what the common lesions are in adult congenital heart disease and how they should be managed. Acyanotic congenital heart disease in the adult population primarily involves left-to-right shunts, such as atrial septal defect, ventricular septal defect, patent ductus arteriosus, and obstructive lesions such as aortic coarctation of the aorta. The most common form of cyanotic congenital heart disease in adults is tetralogy of Fallot. Other complex conditions seen in adults include univentricular hearts, Ebstein's anomaly of the tricuspid valve, and corrected transposition of the great vessels. Most patients with congenital heart disease will need to undergo surgery, catheterization, or catheterization intervention. Results are excellent in the adult population. Long-term follow-up is needed for any adult congenital heart patient receiving care in institutions that are well organized and well equipped, as we learn more about the natural and unnatural history of these conditions.     

Heart failure in the adult patient with congenital heart disease

BACKGROUND: Adult survival is now the rule for most congenital heart defects. However, despite surgical "repair," heart failure remains a common long-term complication of congenital heart disease. Heart failure specialists are seeing an increasing number of patients with congenital defects as the underlying etiology of their heart failure. METHODS AND RESULTS: Familiarity with the anatomy, physiology, and long-term sequelae of surgical correction are essential for providing care to this complex group of patients. CONCLUSION: This review discusses the diagnosis, pathophysiology, and management of the adult congenital heart patient with concomitant heart failure.     

Performing a myocardial biopsy in a cardiac transplant patient with a persistent left superior vena cava

The life expectancy of patients with congenital heart disease is increasing. Thus, as the prevalence of adults with congenital heart disease increases, invasive cardiologists will have more exposure to these patients and will benefit from expertise in the anatomy of congenital heart defects. We present a case of performing right heart catheterization and myocardial biopsy in a cardiac transplant patient with a history of multiple congenital defects including a persistent left superior vena cava. © 2008 Wiley‐Liss, Inc.     

先心病介入封堵治疗的新进展

先天性心脏病的发病率为8‰～12‰,传统外科手术是主要的治疗方法。随着微创介入手术的飞速发展,先心病介入封堵治疗日益成熟,现就目前几种常见先心病的介入封堵治疗的新进展做一综述。     

新生儿先天性心脏病慢性心力衰竭与神经内分泌激活的研究

目的 检测新生儿先天性心脏病（先天性心脏病）的神经内分泌因子,探讨新生儿先天性心脏病是否存在神经内分泌激活及其临床意义.方法 选取2008年10月至2013年8月我院收治的100例新生儿先天性心脏病患者,检测其脑利钠肽（BNP）、醛固酮（ALD）和心房利钠肽（ANP）,另选取年龄及性别与之相匹配的体检正常新生儿30名作为对照组.结果 新生儿先天性心脏病患者血循环中的BNP为（35.7±7.4）pmol/L,ANP为（55.6±7.5）pmol/L,ALD为（546.1 ±42.3）pmol/L,与对照组比较明显增高（P均＜0.01）.三个亚组患儿随着疾病严重程度的加重,神经内分泌的激活就越明显.结论 新生儿先天性心脏病患者的神经内分泌明显激活且具有慢性心力衰竭的特征,并与疾病的严重性密切相关.     

新生儿先天性心脏病血清一氧化氮、血浆内皮素-1及血管紧张素Ⅱ水平的研究

目的观察血清一氧化氮（NO）、内皮素-1（ET-1）及血管紧张素Ⅱ（AngⅡ）在新生儿先天性心脏病中的含量变化,探讨血清NO、ET-1及AngⅡ与新生儿先天性心脏病的关系。方法选择70例患先天性心脏病的新生儿,另选取年龄及性别与之相匹配的体检正常新生儿30例作为对照组。用硝酸还原酶法测定血清NO含量,用放射免疫分析方法检测血浆中的ET-1及AngⅡ含量。结果患先天性心脏病的新生儿组血清NO含量明显低于对照组,而血浆中的ET-1及AngⅡ含量明显高于对照组。结论NO、ET-1及AngⅡ可能参与了先天性心脏病的发生、发展过程。     

Adult patients with congenital heart abnormalities: present and future

The incidence of congenital heart disease is 8 to 10 per 1000 newborn. Due to the advances of heart surgery, medical treatment and interventional cardiology the primarily high mortality rate of relevant congenital heart disease has declined from 80 % to 20 %. Nowadays more than 80 % of children with relevant congenital heart disease reach adulthood. Currently approx. 150 000 adults with significant congenital heart anomalies live in Germany presently. Their number is rising continuously. With the exception of an patent Ductus Botalli and a small atrial septal defect, which could be operated in early childhood curatively, all other congenital heart defects need regular control, since even after successful primary interventional or operative treatment significant residue or sequelae have to be expected. Optimal care of these patients begins in the childhood and must be continued down to the high adulthood. Almost all of them need a careful follow-up in order to recognize residue or sequelae and to treat them in time. The complexity of many congenital heart defects makes a multidisciplinary approach necessary. A specialized, interdisciplinary cooperation between cardiologists, pediatric cardiologists, cardiac surgeons and other specialists is mandatory.     

常温体外循环心脏跳动中矫治婴幼儿先心病35例

目的 :观察常温体外循环心脏跳动中矫治婴幼儿先天性心脏病的疗效。方法 :4月～ 3岁婴幼儿先天性心脏病患儿 35例 ,采用常温体外循环在心脏跳动中进行心内直视修补手术。结果 :全组无 1例早期死亡 , °房室传导阻滞 2例 ,无低心排、肺动脉高压危象、呼吸衰竭需气管切开病例 ,痊愈出院 35例。结论 :在婴幼儿先天性心脏病心内直视修补手术中采用常温体外循环心脏不停跳方法是可行、可靠的。     

Prevalence of rheumatic and congenital heart disease in schoolchildren of Kathmandu valley in Nepal

BACKGROUND: Rheumatic heart disease remains a major public health problem in developing countries with its very high prevalence. Rheumatic and congenital heart disease are significant causes of morbidity and mortality among Nepalese schoolchildren. The aim of our study was to determine the prevalence of rheumatic and congenital heart disease among schoolchildren of the Kathmandu valley in Nepal. METHODS AND RESULTS: The study included 9420 students, of whom 4466 were male and 4954 were female, with ages ranging from 5 to 18 years. A clinical survey was conducted by the examining team in selected schools, and involved answering standard questionnaires. A total of 83 children were suspected of having heart disease. Out of these 83 children, 23 were confirmed to have heart disease; 11 had rheumatic heart disease, and 12 congenital heart disease, giving a prevalence of 1.2/1000 and 1.3/1000, respectively. The commonest cardiac lesions were mitral regurgitation in the rheumatic heart disease group, and atrial septal defect in the congenital heart disease group. A higher prevalence of congenital heart disease was detected in females. CONCLUSIONS: The prevalence of rheumatic heart disease and congenital heart disease among schoolchildren of Kathmandu is 1.2/1000 and 1.3/1000, respectively, with mitral regurgitation and atrial septal defect being the commonest lesions.     

Congenital heart disease and heart failure

The syndrome of heart failure in adult non-congenital heart disease patients includes myocardial disease and ventricular dysfunction. In the presence of congenital abnormalities the cause of heart failure is often multi-factorial and can be a result of the underlying anomaly, surgical intervention, or ventricular dysfunction. Despite the possible clinical similarities, the two conditions are fundamentally different. In congenital heart disease the neurohormonal system is already abnormal even in the absence of clinical manifestations of heart failure and, in many cases, exercise intolerance is related to cyanosis. The approach to heart failure management in the two etiologies might be similar. Preventative attempts to preserve ventricular function in coronary or valve disease parallels early reparative therapy in congenital heart disease Pharmacological therapy is common for the two conditions, despite the limited number of evidence-based recommendations for congenital diseases. In drug-resistant patients, cardiac electrical resynchronization is an established therapy for treating ventricular asynchrony in non-congenital heart failure sufferers, but has only recently been adopted in selected congenital cases. Due to this, congenital heart disease patients are managed in highly specialized unites in close cooperation with cardiologists and surgeons. The ideal follow-up protocol for such patients remains to be determined, particularly in those individuals with subclinical signs of residual cardiac dysfunction. Heart Fail Monit 2008;6(1):2-8.     

Echo-Doppler in the diagnosis and management of congenital heart disease

Advancements in echo-Doppler technology now provide the capability for both high-quality anatomic imaging as well as the assessment of cardiac flows and hemodynamics. Given these capabilities, and the potentially complex nature of all congenital heart lesions, echo-Doppler is well suited for the diagnostic assessment of congenital heart disease. As a noninvasive, reliable, and relatively inexpensive tool, it is well suited for the longitudinal follow-up of patients with treated and untreated congenital heart lesions. Recent experience with intraoperative imaging has indicated that direct epicardial echo-Doppler examination provides clinically useful information for the surgeon treating congenital heart lesions. Echo-Doppler examination continues to evolve into a primary modality for the recognition, evaluation, and treatment of congenital heart disease.     

Congenital heart malformations in Jutland, Denmark: a three year necropsy study in children aged 0-14 years. Epidemiology and classification according to sequential segmental analysis

The use of sequential segmental analysis for describing congenital heart malformations was the method of assessment used in a prospective necropsy study covering Jutland, a well defined geographical and demographic area of Denmark. The study group was 1,154 children of whom 261 (22.6%) had a congenital heart malformation. The most common malformations were ductus arteriosus and ventricular septal defect and there were 77 cases in which connections between chambers or between chambers and great arteries were anomalous (68 liveborn; 37 male and 31 female: nine stillborn; two male and seven female). No difference in sex distribution or seasonal variation was found between those with congenital heart disease and those without. Extracardiac malformations and chromosomal abnormalities were more often seen in children with congenital heart malformation than those without (30.3% vs 16.6%). The sequential segmental analysis is a logical and precise way of describing congenital heart malformations and it should be routinely used to classify cases of congenital heart malformation.     

Congenital heart block

1. 1. Studies of eight cases of congenital heart block, including the first published case of mitral atresia with congenital heart block, are presented.

2. 2. Review of the literature revealed that of the seventeen cases of congenital heart block reported with postmortem findings interventricular septal defect, with or without other anomalies, was the most common associated congenital lesion, being present in twelve cases, while patent ductus arteriosus was found in six and coarctation of the aorta in four cases as part of the malformation. Congenital heart block may occur in patients who show no clinical evidence of associated heart disease.

3. 3. The diagnostic value of the electrocardiogram in differentiating congenital from acquired heart block is stressed. The ventricular rate in congenital heart block is generally 40 to 80 beats per minute and the QRS complex is usually supraventricular in form. This is in contrast to the somewhat slower ventricular rate and idioventricular form of the QRS complex usually found in acquired heart block.

4. 4. Cardiac catheterization in two of our patients revealed that (a) when atrial contraction occurs during ventricular systole, the “a” waves were considerably higher than those recorded when atrial contraction occurs during ventricular diastole; (b) direct pulmonary artery, right ventricular and brachial artery pressures revealed the influence of the atrial contractions. The possible mechanisms of the hemodynamic observations are discussed.

5. 5. The prognosis of congenital heart block is primarily that of the associated heart disease, when present.