Manifestations Of Congenital Heart Disease Research Articles

Late Manifestation of Congenital Heart Disease: Right-side Infective Endocarditis and the Mystery of the Unseen Ventricular Septal Defect: Case Report

Infective endocarditis (IE) is a severe complication in patients with congenital heart disease. However, CHD-associated mortality has decreased to 10% because of improvements in the diagnosis of infective endocarditis, antibiotic therapy, cardiac surgery, and interventional procedures. Herein, we aimed to illustrate a case of right-sided infective endocarditis associated with an unknown ventricular septal defect, complicated by septic pulmonary emboli as a rare form of delayed presentation of congenital heart disease.
 The significant occurrence of infective endocarditis prompts the need for additional investigations into the current utilization, necessity, and effectiveness of antibiotic prophylaxis in patients with congenital heart disease (CHD).

Manifestations of Pulmonary Disease in Adults with Congenital Heart Disease

Children with congenital heart disease (CHD) are more frequently living into adulthood as their survival has improved due to availability of better medical and surgical management in recent times. Management of adults with CHD is emerging as new challenge in the field of medical science. Adults surviving with CHD for longer duration have been observed to develop more complications as compared to children. It is important to recognise and treat these complications early to reduce the morbidity. Pulmonary diseases are the most common systemic complications associated with adults having CHD. These individuals are presenting to clinics or emergency for pulmonary complaints, hence, pulmonologist must be aware about the pulmonary manifestations of CHD and their management.

Profile of Children with Congenital Heart Disease and Upper Respiratory Tract Infection in Dr. Soetomo General Hospital Surabaya Period March 2018

Introduction: Congenital Heart Disease (CHD) is the leading cause of death in the first year of life. One of the manifestations of CHD is upper respiratory infection (URI). In Indonesia, 90% of the acute respiratory infection is URI and it becomes the most common reason for children to go to emergency center. The aim of this study is to describe the profile of children with congenital heart disease and upper respiratory tract infection (URTI) in Dr. Soetomo General Hospital, Surabaya, based on sex, age, immunization status, social-economic status, and type of CHD. Methods: This descriptive study was done by collecting data using medical records and questionnaires from March 1st to 31st 2018. Results: Total number of the sample was 46 patients; 18 (39.1%) of them were male and 28 (60.9%) were female, with male to female ratio was 1:1.6. The most common age group (69.6%) was toddler (0-5 years old). The most common type of CHD was acyanotic (89.1%). Conclusion: Female patients had more (80%) severe URI than male patients. Patients with severe URI only occur in toddlers. Interestingly, 60% of patients with severe URI had complete immunization. Patients with severe URI had parents with moderate (60%) and low income (40%). There were 100% of patients with severe URI who had acyanotic CHD.

Urinary Interleukin-18 and Urinary Neutrophil Gelatinase-associated Lipocalin Predict Acute Kidney Injury Following Pulmonary Valve Replacement Prior to Serum Creatinine

It is becoming increasingly recognized that manifestations of congenital heart disease (CHD) extend beyond the cardiovascular system. The factors contributing to renal dysfunction in patients with CHD are multifactorial, with acute kidney injury (AKI) at time of cardiac surgery playing a major role. AKI is often diagnosed based on changes in serum creatinine and estimated glomerular filtration rate (eGFR). Such measurements are often late and imprecise. Recent data indicate that urinary biomarkers interleukin-18 (IL-18) and neutrophil gelatinase-associated lipocalin (NGAL) are earlier markers of AKI. We sought to determine the efficacy of urinary IL-18 and NGAL for detecting early AKI in patients undergoing surgical pulmonary valve replacement (PVR). Twenty patients presenting for surgical PVR with a history of previous repair of a conotruncal anomaly were enrolled. Preoperative clinical data were measured and urine samples and serum creatinine were collected at 6, 12, 24, and 72 hours post bypass. Urine was evaluated for NGAL and IL-18. AKI was determined using the Risk, Injury, Failure, Loss and End Stage Renal Disease (RIFLE) classification system. Using the RIFLE classification system, seven patients (35%) were found to have AKI defined as a drop in the eGFR or an increase in serum creatinine. All seven patients with AKI had marked increase from preoperative baseline in urine IL-18 (sixfold) and NGAL (26-fold). Using NGAL and IL-18, AKI was detected at 6 hours postoperatively, resulting in AKI being identified 12-36 hours prior to detection by conventional methods. No preoperative predictors for AKI were identified. Both NGAL and IL-18 are early predictive biomarkers of AKI, and both increase in tandem after surgical PVR. Importantly, both rise before an increase in creatinine or a decrease in eGFR is present. Monitoring both biomarkers may allow for earlier detection and subsequent interventions to prevent AKI at time of surgery for CHD.

GATA4Specific Nonsynonymous Single-Nucleotide Polymorphisms in Congenital Heart Disease Patients of Mysore, India

Congenital heart disease (CHD) is the most common type of birth defect, affecting 1% of all live births. The recent exponential increase in the knowledge of medical genetics has revolutionized the understanding of CHDs during the past few decades. GATA4, a transcription factor, is involved in heart development. There are many contradictory reports on involvement of single-nucleotide polymorphisms (SNPs) of GATA4 in the manifestation of CHD. In view of this, an attempt has been made to analyze the known SNPs of GATA4 in Mysore patients with CHD. Of the 308 CHD patients recruited, 100 were screened for SNPs of GATA4 by MassARRAY, which identified 11 SNPs, of which 6 were found in both CHD cases and controls. The other 5 SNPs, c.278G>C (G93A), c.1207C>A (L403M), c.1232C>T (A411V), c.1295T>C (L432S), and c.1180C>G (P394A), were found only in CHD patients. Secondary structure analysis revealed that mutant proteins with the SNPs G93A, L403M, and L432S showed structural changes in their helix, sheet, and turn. Thus, these findings suggest the involvement of specific SNPs of GATA4 in the manifestation of CHD, reported for the first time in an Indian scenario. However, screening for a larger number of CHD patients would help us to establish genotype-phenotype correlation.

Mutations of TFAP2B in congenital heart disease patients in Mysore, South India.

Background & objectives:Cardiac malformations in the young constitute a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1 per cent of all live births. Patent ductus arteriosus (PDA) is clinically significant foetal circulation anomaly, second most common form of CHD which constitutes approximately 10 per cent of total CHDs. The study aimed to screen for TFAP2B mutations in CHD patients of Mysore.Methods:With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, south India, were recruited for the analysis of screening of mutations. MassARRAY analysis of 5 prominent mutations of TFAP2B was performed.Results:The analysis did not show any of the five mutations of TFAP2B screened by massARRAY in patients and controls, indicating that these mutations were not involved in the manifestation of CHD in the patients at Mysore, south India.Interpretation & Conclusions:The findings suggest the lack of involvement of known mutations of TFAP2B with syndromic or nonsyndromic CHDs in Mysore patients.

Adult Congenital Heart Disease

It has long been recognized that manifestations of congenital heart disease extend beyond the cardiovascular system. The extracardiac ramifications of congenital heart disease are multifaceted and bidirectional. The intricate interplay between congenital heart physiology, bi- or univentricular heart function, early and/or ongoing cyanosis, surgical and residual sequelae, and multisystemic effects are increasingly appreciated. Examples include the well-characterized neurological, hematologic, respiratory, skeletal, and hepatic consequences of cyanosis1; thromboembolic complications in surgically palliated univentricular hearts2; and dysregulation of the autonomic nervous system in various forms of congenital heart disease.3 Article p 2320 In the present issue of Circulation , Dimopoulos and associates4 provide original and important insights regarding the relationship between congenital heart disease and impaired renal function. They examine the prevalence of renal dysfunction across a wide-spectrum of adult congenital heart defects and explore implications on overall death rates. ### Heterogeneity of the Study Population A general and common challenge in congenital heart disease research that encompasses a broad spectrum of cardiac disorders is the complexity and marked heterogeneity of the study population. From a methodological perspective, there is often a trade-off between heterogeneity of the patient population and the precision of a given statistical inference. When the objective is to provide a global perspective on a novel association, such as renal dysfunction and death in adults with congenital heart disease, however, heterogeneity of the patient population may be advantageous. The nonrestrictive inclusion criteria enhance generalizability of the findings to a broad target population. Although the reported overall 9.3% prevalence of moderate to severe renal dysfunction must be interpreted within the context of a high-volume referral center, it reflects a wide spectrum of congenital heart disease subtypes. Heterogeneity of the study population also allows exploration of gradients …

Multivalvular Infective Endocarditis in a Tetralogy of Fallot

Infective endocarditis (IE) is still a problem in patients with adult congenital heart disease. Tetralogy of Fallot (TOF) is one of the most important manifestations of congenital heart disease, which carries a high risk for the development of IE. We present an 18-year-old male with TOF complicated by an aggressive form of IE involving all cardiac valves.

Formation of the Ventricles

The formation of the ventricles of the heart involves numerous carefully regulated temporal events, including the initial specification and deployment of ventricular progenitors, subsequent growth and maturation of the ventricles through “ballooning” of chamber myocardium, the emergence of trabeculations, the generation of the compact myocardium, and the formation of the interventricular septum. Several genes have been identified through studies on mouse knockout and transgenic models, which have contributed to our understanding of the molecular events governing these developmental processes. Interpretation of these studies highlights the fact that even the smallest perturbation at any stage of ventricular development may lead to cardiac malformations that result in either early embryonic mortality or a manifestation of congenital heart disease.

Radiographic Manifestations of Congenital Heart Disease in the Adult Patient

Improvements in the preoperative evaluation, surgical treatment, and postoperative care of patients with congenital cardiac disease have allowed a large patient population with congenital cardiac abnormalities to reach adolescence and adulthood. Noninvasive diagnostic imaging procedures (e.g., plain film radiography, echocardiography, computed tomography, and magnetic resonance imaging) are playing an increasingly important role in the evaluation and management of adults with both treated and untreated congenital cardiac disease. The role of plain film radiology is emphasized.

Transesophageal study of infant supraventricular tachycardia: Electrophysiologic characteristics

Programmed electrical stimulation of the heart to initiate and terminate tachycardia and analysis of the temporal relation between ventricular and atrial activation during tachycardia have been useful in the evaluation of Supraventricular tachycardia (SVT). Such techniques have rarely been applied to evaluate infants with SVT. We used a silicone rubber-coated bipolar electrode catheter (15 or 22 mm interelectrode spacing), positioned in the esophagus, for electrical stimulation of the heart and recording of electrograms for the evaluation of 14 infants aged 1 to 84 days with SVT. Three infants had electrocardiographic features of Wolff-Parkinson-White syndrome, and no infant had other manifestations of congenital heart disease. Tachycardia cycle lengths ranged from 180 to 295 ms and ventriculoatrial intervals recorded from the esophagus were 80 to 220 ms. In 12 infants, transesophageal atrial stimulation was used to terminate and initiate SVT using stimuli of 9.9 ms and 10 to 20 mA. Initiation and termination of SVT by electrical stimulation suggest that SVT in infants is due to reentry, and the presence of ventriculoatrial intervals >70 ms further suggests that accessory atrioventricular connections (usually concealed) constitute a portion of the reentry circuit.

Cardiopulmonary disease in newborns

A film emphasizing the importance of tachypnea as an early manifestation of congenital heart disease was shown to physicians and nurses at 27 hospitals as part of their regular continuing medical education activities. To evaluate the effects of the program, investigators developed a pretest-posttest design which included a nonequivalent control group. Pretest and posttest data were obtained through chart audit of referrals from subjects in experimental and control groups. Dependent variables used to test the hypothesis included the age at which infants were referred and the age at which tachypnea was noted. Analysis of the data yielded significant gain scores for the experimental group, while changes in the control group were not significant. The findings indicate that a need-oriented educational program can have a measurable impact on improving the quality of patient care.

Oral manifestations of congenital heart disease: A preliminary report

Summary<ul><li>1.A description and discussion is given of the observations made on the teeth and surrounding structures as seen in the following conditions: tetralogy of Fallot, coarctation of the aorta, dextrocardia, transposition of the great vessels, patent ductus arteriosus, septal defects, persistent ostium primum, and tetralogy of Eisenmenger.</li><li>2.The most striking changes are observed in the papillae of the tongue, the mucous membranes, and gingivae in the tetralogy of Fallot. Similar but less marked changes in these structures are seen in the tetralogy of Eisenmenger, and in transposition of the great vessels. In coarctation of the aorta the pulp canals in the maxillary incisors are found to be markedly enlarged and funnel-shaped.</li><li>3.No observable oral manifestations were noted in dextrocardia, patentductus arteriosus, and septal defects.</li></ul>