Gender differences in adult congenital heart disease

Objective. To assess gender differences in morbidity, mortality and patient management among adults born with a heart defect. Methods and results. The database of the European Heart Survey on adult congenital heart disease was explored. This contains data on 4110 patients with one of eight congenital heart defects followed retrospectively for a median of 5.1 years. The existence of gender differences was assessed by considering mortality and a few ‘overall’ measures of morbidity. Adjusting for type of defect and age, it was found that cumulative mortality was greater in the male population (hazard ratio 1.63 (95% CI 1.12 to 2.38); p=0.011)). A significantly greater proportion of females had functional limitations (NYHA functional class >1; 37% vs. 29% of men; p=0.003). However, males were more likely to be on chronic medication during follow-up (59% vs. 55% of women; p=0.001), and males underwent diagnostic procedures more frequently (1.58/patient-year vs. 1.48/patient-year for women; p<0.02). There was no significant difference in the proportions of patients who underwent at least one intervention during follow-up, and rates of outpatient (re-)visits were not different between the sexes. Conclusion. This exploratory assessment of a large international database found evidence that gender differences exist in morbidity and mortality among adult patients with congenital heart disease, as well as in medical management. Future studies in adult congenital heart disease should always take into account the effects of gender. (Neth Heart J 2009; 17:414–7.)     

Use of the Apple Watch iECG in adult congenital heart disease patients

IntroductionThis study evaluates the accuracy of iECGs in comparison to the gold standard ECG in adult patients with congenital heart disease and recommends the appropriate iECG derivation based on the patient's characteristics.MethodsIn 106 adults (51 female, 55 male) with congenital heart disease, a gold standard 12-lead ECG was recorded, followed by three iECGs with the Apple Watch series 4, which correspond to Einthoven leads I, II, and III. Two experienced and independent cardiologists analyzed the time intervals, amplitudes, and polarities of the ECG parameters as well as the rhythm type and correlated the patient characteristics with the iECG parameters.ResultsThe iECG parameters of all three iECG leads correlate strongly with those of the gold standard ECG, with exception of the P and T wave durations. We demonstrated that the informative value of the individual iECGs was independent of the patient's characteristics, in particular the heart axis, anatomy, and situs, even if the quality of the Einthoven III-like derivation was partially inadequate. The automatic rhythm analysis of the Apple Watch and the heart rhythm classification of a standard ECG analyzed manually by a cardiologist corresponded in 77%.ConclusioniECG recordings of adults with congenital heart disease provide comparable results with Einthoven recordings I, II, and III of the 12-lead ECG and current data encourage the use of the Apple Watch not only in patients with structurally normal hearts but also in patients with congenital heart disease.     

Expected and unexpected cardiac problems during pregnancy

Maternal heart disease complicates at least 1% of pregnancies and is one of the most important causes of maternal death. In developing countries rheumatic heart disease remains the major cause of maternal heart disease, while in developed countries maternal congenital heart disease has become more prevalent due to the improved survival of children with congenital heart disease. In addition, the prevalence of coronary artery disease is rising because of unhealthy lifestyle and the tendency to postpone motherhood until the third decade.     

Transforming growth factor <Emphasis Type="Italic">beta</Emphasis> signaling in adult cardiovascular diseases and repair

The majority of children with congenital heart disease now live into adulthood due to the remarkable surgical and medical advances that have taken place over the past half century. Because of this, adults now represent the largest age group with adult cardiovascular diseases. It includes patients with heart diseases that were not detected or not treated during childhood, those whose defects were surgically corrected but now need revision due to maladaptive responses to the procedure, those with exercise problems and those with age-related degenerative diseases. Because adult cardiovascular diseases in this population are relatively new, they are not well understood. It is therefore necessary to understand the molecular and physiological pathways involved if we are to improve treatments. Since there is a developmental basis to adult cardiovascular disease, transforming growth factor beta (TGFβ) signaling pathways that are essential for proper cardiovascular development may also play critical roles in the homeostatic, repair and stress response processes involved in adult cardiovascular diseases. Consequently, we have chosen to summarize the current information on a subset of TGFβ ligand and receptor genes and related effector genes that, when dysregulated, are known to lead to cardiovascular diseases and adult cardiovascular deficiencies and/or pathologies. A better understanding of the TGFβ signaling network in cardiovascular disease and repair will impact genetic and physiologic investigations of cardiovascular diseases in elderly patients and lead to an improvement in clinical interventions.     

Comparison of echocardiography and 64-slice spiral computed tomography in the diagnosis of congenital heart disease in children

The diagnosis of congenital heart disease in children has been an issue in the medical community. Timely diagnosis and treatment can provide a greater guarantee for children's healthy growth. In recent years, there have been more and more studies on the diagnosis of congenital heart disease in children. This paper compares the advantages and disadvantages of echocardiography and 64-slice spiral computed tomography (CT) in the diagnosis of congenital heart disease in children. In clinical trials, we also tested 64 patients with spiral computed tomography (SCT) and transthoracic echocardiography (TTE) detection of patients and then confirmed the accuracy of the diagnosis by the surgical methods. The two methods of detection, the rate of missed diagnosis, and the rate of misdiagnosis were counted. Through the test results and pathological diagnosis results, the diagnostic accuracy of the two methods were all above 90%, each with its own advantages and disadvantages. The sensitivity of echocardiographic in detecting intracardiac structure abnormalities was relatively high, but when the diagnosis of extracardiac structural abnormalities less than 64-slice spiral CT method, misdiagnosis of TTE was mainly due to extracardiac vascular malformations. Therefore, it is recommended to combine the two methods to improve the diagnosis of congenital heart disease in children.     

Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?

This study explores the association between neck web and congenital heart disease in patients with Turner syndrome. Of 193 cases with documented 45 X-O karyotype, 106 (55%) had a web neck and 87 (45%) had a normal neck. The incidence of congenital heart disease was significantly different between these two groups, occurring in 30% of those with web neck and 9% of those with normal neck (x2 = 12.82, P less than .0005). The difference was most striking in coarctation of the aorta for which the prevalence was 25% with web neck and 3% with normal neck (X2 = 17.65, P less than .0001). The association between web neck and congenital heart disease suggests a pathogenic relationship exists between the two. The following hypothesis is proposed to explain the association. Increased lymphatic pressure associated with jugular lymphatic sac obstruction distends the thoracic ducts, which compress the ascending aorta altering intracardiac blood flow. Redirection of intracardiac blood flow produces coarctation of the aorta and other defects in the spectrum of left heart obstruction. This proposed mechanism is an example of a teratogenic event remote from the heart, which alters cardiovascular morphology.     

ABO Blood Groups in Patients with Congenital and Rheumatic Valvular Heart Disease

ABO blood groups were determined in 404 patients who had cardiac surgery for heart disease; 136 of these patients had rheumatic valvular heart disease and 268 had congenital heart disease. The incidence of each ABO blood group was compared to a control series of 2171 patients by means of the ϰ² test. There was no statistical difference in the incidence of ABO blood group when patients with congenital and rheumatic valvular heart disease were compared with the control group.     

Cardiac Pacing and Defibrillation in Children and Young Adults

The population of children and young adults requiring a cardiac pacing device has been consistently increasing. The current generation of devices are small with a longer battery life, programming capabilities that can cater to the demands of the young patients and ability to treat brady and tachyarrhythmias as well as heart failure. This has increased the scope and clinical indications of using these devices. As patients with congenital heart disease (CHD) comprise majority of these patients requiring devices, the knowledge of indications, pacing leads and devices, anatomical variations and the technical skills required are different than that required in the adult population. In this review we attempt to discuss these specific points in detail to improve the understanding of cardiac pacing in children and young adults.     

Ontogeny of excitation-contraction coupling in the mammalian heart

The neonate mammalian heart is phenotypically different from the adult heart in many respects. Understanding these phenotypic differences are a fundamental component of understanding the mechanisms of congenital heart disease and its treatment. Differences in excitation-contraction (E-C) coupling of the neonatal heart from that of the adult include less reliance on intercellular sources of Ca(2+) such as that from sarcoplasmic reticulum (SR). Electron micrographs indicate that these immature cardiomyocytes lack transverse tubules and the SR is sparse. This paper focuses on the changes in the phenotype of E-C coupling during ontogeny in the mammalian heart and the molecular mechanisms underlying these changes.     

Cardiac resynchronization therapy-defibrillator implantation guided by electroanatomic mapping in a young adult patient with congenital heart disease

Cardiac resynchronization therapy-defibrillator (CRT-D) implantation is a therapeutic option for adult patients with congenital heart disease (CHD), bundle branch block, reduced ejection fraction and symptoms of heart failure. A new implantation approach guided by the electroanatomic mapping (EAM) has been developed to overcome some issues of the standard technique: non-responder patients, high x-ray exposure and use of iodinated contrast medium for coronary sinus angiography. This approach has not been previously described in the CHD population. We report a case of EAM-guided approach for CRT-D implantation in a young adult patient with CHD.     

Transition from paediatric to adult care of adolescent patients with congenital heart disease: a pathway to optimal care

Introduction

Adolescents with congenital heart disease transition from a paediatric to an adult setting. This is associated with loss-to-follow-up and suboptimal care. Increasing numbers of patients justify a special program. In this study we evaluated the cooperative program between paediatric and adult cardiology departments in a tertiary referral centre.

Methods

In this retrospective study, patients with congenital heart disease with at least one appointment scheduled at the transition program between January 2010 and January 2015 were included. They were seen by a paediatric cardiologist at the age of 15 years in the paediatric department and from age 18 to 25 in the adult department. Demographic and medical data were collected from the electronic patient files.

Results

A total of 193 patients (105 males, 88 females) were identified. Sex distribution was almost equal. Most patients were 18–21 years of age. The largest group, 128 patients (67?%), lived within 50 kilometres of our hospital. Paediatric cardiologists referred 157 (81?%) of patients. General practitioners and cardiologists from outside our centre were important referrers for patients lost to follow-up, together accounting for 9?%. A total of 34 (18?%) patients missed an appointment without notification. Repeat offenders, 16 of 34 patients, formed a significant minority within this group. A total of 114 (59?%) patients were attending school, 46 (24?%) were employed, and 33 (17?%) patients were inactive. Activities are in line with capabilities. A nurse practitioner was involved with the 7?% with complex and psychosocial problems. Moderately severe congenital heart defects formed the largest patient category of 102 (53?%) patients. In 3?% of patients the diagnosis had to be revised or was significantly incomplete. In 30 (16?%) patients, cardiac diagnosis was part of a syndrome. Of the 193 patients, 117 (92?%) were in NYHA class I, with 12 (6?%) and 4 (2?%) patients falling into classes II and III, respectively.

Conclusions

A viable transition program can be built by collaboration between paediatric and adult cardiology departments with the same treating physician taking care of patients between 15 and 25 years of age. General practitioners are important in returning lost-to-follow-up patients to specialised care. Nurse practitioners are essential in the care for patients with complex congenital heart disease.

     

人类单纯性先天性心脏病中TBX5基因的突变及表达研究

本文首次较为完整地报道了藏汉通婚子代群体的14项肤纹参数（其中藏父汉思及汉父藏母各100 例）,并将这些肤纹参数分别与其藏汉父母样本的有关肤纹参数进行比较,再与1000例藏族及1040例 汉族两个大样本的有关肤纹参数进行比较。结果表明：藏汉后代的肤纹特征介于藏族和汉族之间,提示 肤纹参数的多因子遗传本质。     

Virtual reality 3D echocardiography in the assessment of tricuspid valve function after surgical closure of ventricular septal defect

Background

Chronic right ventricular apical pacing may have detrimental effect on left ventricular function and may promote to heart failure in adult patients with left ventricular dysfunction.

Methods

A group of 99 pediatric patients with previously implanted pacemaker was studied retrospectively. Forty-three patients (21 males) had isolated congenital complete or advanced atrioventricular block. The remaining 56 patients (34 males) had pacing indication in the presence of structural heart disease. Thirty-two of them (21 males) had isolated structural heart disease and the remaining 24 (13 males) had complex congenital heart disease. Patients were followed up for an average of 53 ± 41.4 months with 12-lead electrocardiogram and transthoracic echocardiography. Left ventricular shortening fraction was used as a marker of ventricular function. QRS duration was assessed using leads V₅ or II on standard 12-lead electrocardiogram.

Results

Left ventricular shortening fraction did not change significantly after pacemaker implantation compared to preimplant values overall and in subgroups. In patients with complex congenital heart malformations shortening fraction decreased significantly during the follow up period. (0.45 ± 0.07 vs 0.35 ± 0.06, p = 0.015). The correlation between the change in left ventricular shortening fraction and the mean increase of paced QRS duration was not significant. Six patients developed dilated cardiomyopathy, which was diagnosed 2 months to 9 years after pacemaker implantation.

Conclusion

Chronic right ventricular pacing in pediatric patients with or without structural heart disease does not necessarily result in decline of left ventricular function. In patients with complex congenital heart malformations left ventricular shortening fraction shows significant decrease.     

New developments in adult congenital heart disease

Congenital heart disease (CHD) affects 0.8% of live births and over the past decades technical improvements and large-scale repair has led to increased survival into adulthood of over 95% of the new-born. A new group of patients, those who survived their congenital heart defect, has emerged but late complications including heart failure, pulmonary hypertension (PH), arrhythmias, aneurysms and endocarditis appeared numerous, with a huge impact on mortality and morbidity. However, innovations over the past years have changed the landscape of adult CHD dramatically. In the diagnostic process important improvements have been made in the use of MRI, biomarkers, e‑health concepts and 3D visualisation of anatomy. Care is now concentrated in specialised centres, with a continuous emphasis on education and the introduction of weekly multidisciplinary consultations on diagnosis and intervention. Surgery and percutaneous intervention have been refined and new concepts applied, further reducing the burden of the congenital malformations. Research has matured from case series to global networks. Currently, adults with CHD are still facing high risks of early mortality and morbidity. By global collaboration and continuous education and development and innovation of our diagnostic and therapeutic arsenal, we will improve the perspectives of these young patients.

     

Amoxycillin-resistant streptococci in dental plaque

This investigation was undertaken to study the prevalence of amoxycillin-resistant oral streptococci in normal healthy patients and patients with a cardiac condition, susceptible to infective endocarditis. Samples of supragingival dental plaque were collected from two test groups, children with congenital heart disease and adults with a history of rheumatic fever, and two control groups comprising normal healthy children and normal healthy adults. Bacteria from these samples were grown on a medium selective for oral streptococci, as well as on the same medium containing known concentrations of amoxycillin. The results indicate that a high percentage of rheumatic heart patients and children with congenital heart disease harboured amoxycillin-resistant oral streptococci. The level of amoxycillin resistance in the plaque of adults with rheumatic heart disease was significantly greater than in that of normal adults. In view of the high percentage of patients at risk harbouring amoxycillin-resistant streptococci, it is important that the individual clinical situation be monitored. Perhaps antibiotic sensitivity tests should be performed to select an appropriate antibiotic for prophylaxis of infective endocarditis.     

Medical Radiation to Children with Congenital Heart Disease

A retrospective analysis was made of the source of medical radiation received by 25 children who were investigated by cardiac catheterization techniques and followed in the Cardiac Outpatient Clinic of the Health Centre for Children, Vancouver General Hospital. The source of radiation was analyzed. The r dose per year received from plane films averaged 0.05 r, from cardiac fluoroscopy 6.7 r, and from catheterization and angiocardiography studies 1.58 r per year. In six of the 25 children, radiation doses to the thorax exceeded the LD₅₀ for adult humans. In these six patients 95.8% of the radiation received was during cardiac fluoroscopy. Routine fluoroscopy for the radiological re-evaluation of pediatric patients with congenital heart disease should be replaced by plain chest radiographs.     

Ischemic heart disease without anginal pain]

Prolonged ECG-recording with Holter's technique facilitated detection of heart ischemic episodes without accompanying anginal pain. It is estimated that ischemic heart disease without anginal pain involves about 20% of all patients with IHD, and the episodes of heart ischemia with and without anginal pain occur in 30% of these patients. A course of ischemic heart disease without anginal pain may be due to decreased sensitivity to pain stimuli caused by the lesions to sensory afferent nerves or by the increased serum endorphins. The majority of experiments has shown that asymptomatic ischemic heart disease increases the risk of sudden death. It may be explained by increased physical exercise attempted by these patients and not compliance with anti-sclerotic therapeutical and preventive measures. The treatment of asymptomatic ischemic heart disease is similar to that in symptomatic froms of this diseases.     

Implantation of Total Artificial Heart in Congenital Heart Disease

In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation. In the case presented here, a 17 year-old patient with congenital transposition of the great arteries (CCTGA) experienced progressively worsening HF due to his congenital condition. He was hospitalized multiple times and received an implantable cardioverter defibrillator (ICD). However, his condition soon deteriorated to end-stage HF with multisystem organ failure. Due to the patient''s grave clinical condition and the presence of complex cardiac lesions, the decision was made to proceed with a TAH. The abnormal arrangement of the patient''s ventricles and great arteries required modifications to the TAH during implantation.With the TAH in place, the patient was able to return home and regain strength and physical well-being while awaiting a donor heart. He was successfully bridged to heart transplantation 5 months after receiving the device. This report highlights the TAH is feasible even in patients with structurally abnormal hearts, with technical modification.