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Results for “HEART DISEASE, CONGENITAL”

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PubMed2006

Pacing in adults with congenital heart disease.

Adults with congenital heart disease constitute one of the fastest growing populations in cardiology. Pacing is an integral part of their therapy and may reduce their morbidity and mortality significantly. The current generation of pacemakers is more sophisticated and complex, and they are being utilized for indications other than conduction abnormalities, such as termination of tachycardia and improvement of heart failure. The complex anatomy and history of multiple previous surgeries in adults with congenital heart disease, however, pose many limitations and technical challenges related to the placement of a pacemaker. Unique and innovative approaches to endocardial lead placement and improved epicardial leads is making pacemaker implantation more feasible in these patients.

Adult↗
PubMed1999

Percutaneous translumbar cardiac catheterization and central venous line insertion: an alternative approach in children with congenital heart disease.

Children with congenital heart disease present major problems with venous access, eliminating conventional routes for cardiac catheterization. Although the transhepatic approach has recently gained popularity, we describe here an alternative approach using percutaneous translumbar approach for cardiac catheterization and/or in-dwelling central line insertion in three children with congenital heart disease. Diagnostic hemodynamic studies, transcatheter delivery of an intravascular stent for left pulmonary artery (LPA) stenosis, and chronic central venous line insertion were performed using this technique. Disadvantages include interventionalist's unfamiliarity with technique, awkward patient positioning, technically more difficult than transhepatic, and potential injury to kidney and bowel. Advantages include avoidance of vascular-rich hepatic parenchyma, thus reducing risk of hemorrhage; providing an alternative where transhepatic entry may be contraindicated; avoidance of bile duct, portal vein, and hepatic artery injury; and providing another alternative for not only transvenous, but also transarterial access that may be required for intravascular aortic stent delivery. The interventional radiologist should be utilized as a valuable resource to the cardiologist to help teach and supervise this technique in selected infants and children with limited vascular access.

Cardiac Catheterization↗
PubMed2025

Rare pathogenic NR2F2 (COUP-TFII) variants as potential etiological causes in pediatric patients with congenital heart diseases (CHDs).

OBJECTIVES: Congenital heart diseases (CHDs) are complex genetic disorders, and their genetic basis is not yet fully understood. Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TFII) encodes a transcription factor which is expressed at high levels during mammalian development. Few studies have identified heterozygous and rare variants in the NR2F2 gene in individuals with CHD. This study aimed to evaluate the association between pathogenic genetic alterations in NR2F2 with CHD risk. METHODS: A case-control study was conducted on a group of 135 patients (83 boys and 52 girls) with various types of non-hereditary, isolated CHD who were undergoing open-heart surgery. Additionally, 95 matched healthy children without syndromic or isolated heart abnormalities were selected. RESULTS: Using Sanger sequencing, we identified 5 heterozygous single nucleotide variants in exons 2 and 3 of the NR2F2 gene. These variations were novel and not present in any genomic variation databases. Four of the variations were missense mutations (p.Pro159Arg, p.Ser329Phe, p.Qln338Pro, and p.Tyr348Ser) and one was a synonymous variant (p.G361 = ) in the coding region. Importantly, in silico results indicated that the missense variants had pathogenic effects on protein function. Additionally, the missense variants substantially altered the predicted structure of COUP-TFII. CONCLUSION: The results we obtained not only validate the correlation between NR2F2 mutations and CHDs but also have significant potential for guiding new preventive and therapeutic strategies. This could contribute to the advancement of medical interventions in the fields of cardiology and genetics.

Humans↗
PubMed2006

Adherence to guidelines in the clinical care for adults with congenital heart disease: the Euro Heart Survey on adult congenital heart disease.

AIMS: To investigate the role of guidelines in structuring the clinical care for adult patients with congenital heart disease (CHD), and to assess adherence to the guidelines in Europe. METHODS AND RESULTS: A selected number of current guidelines were chosen pertaining to operative procedures, investigations, and the use of medication ('interventions'). The source for this analysis was the database of the Euro Heart Survey on adult CHD, which contains retrospectively collected data on 4110 patients followed-up for a median of 5.1 years. For each guideline investigated, patients were selected from the database for whom the particular guideline was relevant. The selected cases were classified according to two criteria: was there an indication for the particular intervention and did the intervention take place? In this manner, cases of 'undue treatment' and 'insufficient treatment' were identified. Adherence to guidelines was found to be good in the case of operative procedures and prophylactic drug treatment. However, regarding diagnostic procedures there had been adherence to guidelines in only slightly more than half of the cases. CONCLUSION: Guidelines have an important role in the actual clinical care of adults with CHD. However, large outcome studies are needed to develop more precise guidelines.

Adolescent↗
PubMed2002

[Congenital heart disease, heterotaxia and laterality].

Congenital heart disease occurs in about 0,8% of all newborns. Many cardiac malformations occur among relatives and have a polymorphic presentation. The origin of most congenital heart disease is thought to be multifactorial, implying both anomalous expression of genes and the influence of epigenetic factors. However, in a small number of cases, the origin of congenital heart disease has been directly related to chromosomal anomalies or to defects in a single gene. Curiously, defects in a single gene can explain a polymorphic presentation if the anomalous gene controls a basic embryonic process that affects different organs in time and space. Some of these genes appear to control the establishment of laterality. The establishment of the left-right asymmetry starts at the Hensen node. Here, the initial embryonic symmetry is broken by cascades of gene activation that confer specific properties on the left and right sides of the embryo. Although there are variations between species, some basic patterns of gene expression (Nodal, Pitx2) appear to be maintained along the phylogenetic scale. Anomalous expression of these genes induces the heterotaxia syndrome, which usually courses with congenital heart disease. The development of heart malformations is illustrated with the mouse mutant iv/iv, which is a model for the heterotaxia syndrome and the associated congenital heart disease.

Animals↗
PubMed1980

The changing face of congenital heart disease. A method for predicting the influence of cardiac surgery upon the prevalence and spectrum of congenital heart disease.

The influence of surgery upon the natural history of congenital heart disease is great. Children with many types of congenital heart lesions are now living to adult life. Most of these children will, however, require continuing medical care, care which traditionally has been given by the pediatrician. We have developed a method by which incidence figures and a knowledge of the natural history may be used to obtain prevalence estimates of congenital heart disease. We estimate that in the United States in 1995 there will be nearly 300,000 children under 21 years old with congenital heart disease; 38 per cent of these will have had one or more surgical procedures. In the last two decades the majority of care for children with congenital heart disease was aimed at the correction of the original lesion; however, we predict that in the next two decades an increasing fraction of medical resources will be directed toward the residua and sequelae of cardiac surgical procedures. This alteration in character of congenital heart disease will affect the patient mix seen by the cardiologist with adult patients as well as that of the pediatrician. For ventricular septal defect, pulmonary stenosis, atrial septal defect, persistent ductus arteriosus, coarctation of the aorta and tetralogy of Fallot, we have estimated the nationwide prevalence and the surgical requirements for 1995. Used with more specific local data on population and birth rate, this model can provide important input into planning the delivery of cardiovascular services.

Adolescent↗
PubMed1995

Colour Doppler myocardial imaging: potential applications in acquired and congenital heart disease.

Doppler myocardial imaging (DMI) is a new ultrasound technique which has been developed to allow colour Doppler imaging of cardiac structures as opposed to blood pool imaging. This is achieved by changing the velocity, filtering and threshold parameters of the standard colour Doppler algorithms. DMI parameters which can be measured are regional tissue velocity, acceleration and reflected Doppler energy. In addition, concomitant changes in the pulsed Doppler algorithms allow interrogation of instantaneous peak velocities during the cardiac cycle in the myocardial region in which the sample volume is placed. In both adult acquired heart disease and congenital heart disease, these new ultrasound parameters may provide new information on myocardial contractile function, diastolic function, myocardial perfusion and myocardial structure. The relative lack of image quality by chest wall attenuation inherent in the Doppler technique means that the methodology is potentially superior to standard grey-scale two-dimensional imaging in boundary detection and may prove to be of value in providing a robust boundary detection algorithm for use in volume calculations and in three-dimensional reconstruction of ventricular function.

Arrhythmias, Cardiac↗
PubMed2004

Congenital heart disease never goes away, even when it has been 'treated': the adult with congenital heart disease.

PURPOSE OF REVIEW: As the specialties of pediatrics and pediatric cardiology continue to forge ahead with better diagnoses, medical care, and surgical results, an expanding population of patients with congenital heart disease (CHD) outgrows the pediatric age group, yet does not quite graduate to routine adult cardiology or general medicine. The adult with congenital heart disease (ACHD) faces medical, surgical, and psychosocial issues that are unique to this population and must be addressed as such. This review attempts to discuss and highlight some of the important advances and controversies brought up in the past year, in the care and management of these patients. RECENT FINDINGS: The past five to 10 years have seen dynamic interest in understanding sequelae of corrected, uncorrected, or palliated congenital heart disease. The search for the ideal surgery, optimal prosthesis, and a smooth transition to adult care continues and is reflected in the vast amount of academic work and publications in this field. Of particular interest, conduit reoperations and single ventricle pathway modifications are still an art and a science in evolution. SUMMARY: While all are agreed that there is a pressing need to focus on the delivery of care to the adult with congenital heart disease, this essentially requires a clearer understanding of late sequelae of CHD. The sheer heterogeneity of anatomy, age, surgery, and institutional management protocols can make it difficult to develop clear guidelines. This review attempts to give an up-to-date perspective on some of the new findings related to the more common lesions and problems faced in this group.

Adult↗
PubMed2004

A review of the complementary information available with cardiac magnetic resonance imaging and multi-slice computed tomography (CT) during the study of congenital heart disease.

The incidence of congenital heart disease is approximately 4-6 per 1000 new births; however, the number of people living with congenital heart disease (CHD) is increasing, because of improved diagnosis, medical, and surgical management. While echocardiography continues to be the mainstay of non-invasive imaging, cardiac MRI (cMRI) and computed tomography (CT) have taken on increasing roles in the diagnosis of congenital heart disease in infants, children, and importantly, adults who may have limited echocardiographic windows, especially if post-operative. Cardiac MRI and multi-slice CT can complement the diagnostic information obtained by echocardiography and invasive cardiac catheterization. Post-operative imaging of CHD is especially enhanced by the spin echo MRI techniques, while gradient cine echo MRI imaging allows functional information that is not encumbered by geometric assumptions. Phase contrast (velocity encoding) cardiac MRI data can provide information about flow, allowing accurate determination of regurgitation and shunt volume. Gadolinium enhanced cMRI or three-dimensional reconstructed images from multi-slice CT angiography allow excellent delineation of vascular structures in complex heart disease. Coronary imaging, while possible with both modalities, appears more facile with fast CT imaging. This article reviews the literature to provide an assessment of the special techniques and considerations needed during the conduct of cardiac MRI/MRA and multi-slice CT examinations during the diagnosis of congenital heart disease in pediatric and adult patients.

Adult↗
PubMed1994

Educational assessment of the adult with congenital heart disease.

Adults with congenital heart disease (CHD) have specific educational needs that are influenced by a variety of factors. This article identifies and discusses learning needs and factors that impact educational outcomes for the adult CHD patient population. Assessment techniques and an assessment tool are presented to guide the nurse through the process of assessing an adult patient seeking health care for this disease.

Adult↗
PubMed1994

Adult patients with congenital heart disease.

Adult patients with congenital heart disease present complex problems that require individualized management. Unfortunately, few physicians who care for adults with congenital heart disease have received adequate specific training to deal with their problems. Pediatric cardiologists who are familiar with congenital heart disease often refer patients to adult cardiologists after adolescence. And adult cardiologists have not traditionally had much training or experience in dealing with congenital heart disease. The cardiac needs of these patients are often best managed through the collaborative efforts of adult and pediatric cardiologists, cardiac surgeons, specialized nurse clinicians, and social workers. Of course, it is crucial to their optimal care that there be involvement of a primary care physician who can help with their many medical, surgical, and psychosocial problems.

Adult↗