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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twelve children with subaortic stenosis were analysed. Nine of them developed left ventricular outflow obstruction after surgery for congenital heart disease (VSD + IAA, VSD + DORV, VSD + TGA, VSD + CoA) and then developed an isolated form of primary stenosis. Both echocardiographic exams, TTE and TEE were performed in all patients. TTE was sufficient to assess isolated subaortic stenosis. In children after cardiosurgery, TEE was more reliable and provided more detailed visualisation of the stenosis and its relationship to surrounding structures.
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PMID:[The role of transesophageal echocardiography (TEE) in assessment of left ventricular tract obstruction]. 1263 98

Congenitally corrected transposition of the great arteries, L-TGA, is a rare abnormality accounting for less than 0.5% of clinically apparent congenital heart disease. Age at time of diagnosis and survival rate are variable and depend mostly on associated anomalies. The authors present a clinical case of a twenty-four-year-old woman in whom, in a routine echocardiogram, congenitally corrected transposition of the great arteries and aortic coarctation were diagnosed, an unusual association. They describe the results of complementary exams (echocardiography, chest X-ray, electrocardiogram and cardiac angiography) that they believe to be useful for the correct diagnosis of this clinical situation. Additionally, the authors make a brief review of the literature relevant to the case.
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PMID:Congenitally corrected transposition of the great arteries and aortic coarctation--an uncommon association. 1547 25

DiGeorge (DGS), velocardiofacial, and conotruncal anomaly face syndromes comprise a phenotypic spectrum that is associated with a submicroscopic 22q11.2 deletion in the majority of cases. These syndromes variably express complex congenital heart disease, cellular immune deficits, hypocalcemia, craniofacial anomalies, and learning disabilities. This retrospective study correlates the presence of a deletion in this region with autopsy and clinical findings in a cohort of patients selected from the Cardiac Registry at Boston Children's Hospital. DNA was extracted from formalin-fixed paraffin-embedded cardiac tissue sampled from 189 patients with conotruncal anomalies. Polymerase chain reaction (PCR) was performed using 4 fluorescently labeled oligonucleotide primer pairs for unique short tandem repeat polymorphisms in the DGS critical region. The PCR products were analyzed for loss of heterozygosity (LOH), and a deletion was assumed when at least 3 consecutive loci demonstrated homozygosity. Of the 189 cases, 16 (8%) met our criteria for LOH and were assumed to have a deletion. These patients included 6 (35%) of 17 patients diagnosed clinically with DGS prior to death. Of the 10 non-DGS patients with LOH, 4 had aortic atresia and 3 had tetralogy of Fallot, both frequently seen in DGS. Polymerase chain reaction is a useful screening alternative to fluorescence in situ hydridization for detecting 22q11.2 deletions in archived tissue samples. This study identified a probable deletion in a subset of cases from a cardiac registry with cardiac defects associated with the DGS phenotype.
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PMID:Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. 1694 86

The purposes of this study were to characterize the morphologic, imaging, and clinical characteristics of double-inlet, double-outlet right ventricle (DI-DORV), a rare congenital heart disease, and to compare these findings to those in patients with double-inlet left ventricle (DILV). The clinical records, imaging studies, and heart specimens of 22 consecutive patients with DI-DORV were reviewed. A comparison group of 44 patients with DILV was matched by age at latest follow-up. Among the 22 patients with DI-DORV, 14 had clinical data, 5 had clinical and autopsy data, and 3 had only autopsy data. Abdominal and atrial situs were normal in all, and heart position was levocardia in 91%. The morphology of the atrioventricular valves was variable, with 15 patients showing neither a typical tricuspid nor mitral valve. In the remaining 7 patients, 1 or both atrioventricular valves resembled a tricuspid or a mitral valve. Myocardial architecture was characterized by atypical muscle bundles of varying degrees of hypertrophy and orientation. Most patients had bilateral conus, and 82% had either aortic or pulmonary outflow tract obstructions. The rate of overall mortality or heart transplantation was 36%. Significant differences between DI-DORV and DILV included the type of ventricular loop, the type of conus, and a higher mortality rate in patients with DI-DORV. In conclusion, DI-DORV is a distinct type of functional single ventricle congenital heart disease with variable atrioventricular valve morphology and myocardial architecture. Accurate diagnosis using noninvasive imaging techniques is of paramount importance for optimal management.
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PMID:Anatomic, imaging, and clinical characteristics of double-inlet, double-outlet right ventricle. 2015 52

Virtual endoscopy (VE) is a new post-processing method that uses volumetric data sets to simulate the tracks of a "conventional" flexible endoscope. However, almost all studies of this method have involved virtual visualizations of the cardiovascular structures applied to computed tomography (CT) and magnetic resonance (MR) datasets. This paper introduces a novel visualization method called the "three-dimensional echocardiographic intracardiac endoscopic simulation system (3DE IESS)", which uses 3D echocardiographic images in a virtual reality (VR) environment to diagnose congenital heart disease. The aim of this study was to analyze the feasibility of VE in the evaluation of congenital heart disease in children and its accuracy compared with 2DE. Three experienced pediatric cardiologists blinded to the patients' diagnoses separately reviewed 40 two-dimensional echocardiographic (2DE) datasets and 40 corresponding VE datasets and judged whether abnormal intracardiac anatomy was present in terms of a five-point scale (1 = definitely absent; 2 = probably absent; 3 = cannot be determined; 4 = probably present; and 5 = definitely present). Compared with clinical diagnosis, the diagnostic accuracy of VE was 98.7% for ASD, 92.4% for VSD, 92.6% for TOF, and 94% for DORV, respectively. Diagnostic accuracy of VE was significantly higher than that of 2DE for TOF and DORV except for ASD and VSD. The receiver operating characteristic (ROC) curve for VE was closer to the optimal performance point than was the ROC curve for 2DE. The area under the ROC curve was 0.96 for VE and 0.93 for 2DE. Kappa values (range, 0.73-0.79) for VE and 2DE indicated substantial agreement. 3D echocardiographic VE can enhance our understanding of intracardiac structures and facilitate the evaluation of congenital heart disease.
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PMID:Three-dimensional echocardiographic virtual endoscopy for the diagnosis of congenital heart disease in children. 2053 61

Improved surgical outcomes in children have led to a growing population of adults with congenital heart disease. Rhythm disturbances in the adult congenital heart disease (ACHD) patient can be intrinsic to the anomaly or acquired after palliation. Tachyarrhythmias, either supraventricular or ventricular, and bradyarrhythmias, either sinus node dysfunction or atrioventricular block, may occur frequently. Technological advances in intervention and surgical approaches have led to prophylactic and therapeutic reduction in arrhythmias. In order of escalation, this article addresses medical management, catheter ablation, device therapy for antitachycardia pacing and defibrillation, and surgical intervention. There are now an estimated one million-plus ACHD patients living in the United States. An estimated 45% of those have simple defects (e.g., atrial septal defects), 40% have moderately complex defects (e.g., tetralogy of Fallot, or ToF), and 15% have severely complex defects (e.g., single ventricle anatomy or surgical palliations for transposition of the great arteries [TGA]). The moderate and severe categories have a high incidence of arrhythmia. Of older repaired ToF patients, 34% develop symptomatic atrial or supraventricular tachycardias, 8.5% develop high-grade ventricular tachycardia (VT), and there are an increasing number of implantable defibrillators due to a sudden-death estimate of 2% per decade. Thus, an estimated 50,000 adults with repaired ToF will require electrophysiology follow-up with 100 sudden deaths per year nationally. Roughly 3% of all congenital heart surgeries requiring cardiopulmonary bypass have post-operative AV block, and 1% will require permanent pacing. Older atriopulmonary Fontans have up to an estimated 50% incidence of atrial tachycardia within a decade of palliation due to suture lines and elevated atrial pressures. Patients who have undergone an atrial switch operation (e.g., Mustard or Senning operations) are rarely exclusively in sinus rhythm a decade after repair, thus posing problems for rhythm control and anticoagulation. Catheter ablation in congenital heart disease is often more challenging than structurally normal hearts because of abnormal anatomy (congenital and/or post-surgical) and thicker chamber walls due to unfavorable hemodynamics. In preparation, review of noninvasive imaging, previous catheterization angiography, and surgical palliation reports are paramount prior to a procedure. Fortunately, to meet the growing challenge, newer software with 3-D packages allow for improved mapping. In addition, advances with larger-tipped and irrigated-tip catheters allow for deeper, more effective lesions to be placed. Several advances in surgical approach have led to a reduction in arrhythmias. For example, the arterial switch operation for d-transposition of the great arteries instead of the aforementioned atrial switch operation eliminates the use of a systemic right ventricle that can later develop intra-atrial reentrant tachycardia and sinus node dysfunction. Other advances include paying careful attention to minimizing ventriculotomies in ToF and ventricular septal defect (VSD) repairs, earlier complete repairs, and valve sparing to reduce pulmonary insufficiency. Finally, completion of the extra-cardiac Fontan procedure (e.g., total cavopulmonary connection) for single ventricles avoids extensive suture lines in the right atrium, thereby reducing scarring and higher pressures that lead to IART and sinus node dysfunction. Extracardiac (EC) conduits and lateral tunnel (LT) Fontans are preferred today, and the Fontan conversion procedure (converting prior atriopulmonary Fontans to the EC or LT type) can be performed to reduce arrhythmia and thromboembolic events.
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PMID:Electrophysiology issues in adult congenital heart disease. 2168 42

Familial recurrence of congenital heart disease (CHD), in particular, d-transposition of great arteries (d-TGA) is rare. However, there have been several reports in the literature of sibling recurrence of total anomalous pulmonary venous return (TAPVR). This is the first case report in the literature, describing mother to offspring recurrence of d-TGA. We describe two cases of non-syndromic CHD with mother to offspring and sibling recurrence. The first case is an antenatally diagnosed d-TGA on fetal echocardiogram at 25 weeks of gestational age in the offspring of a 30-year-old mother with d-TGA. The second case is a sibling reoccurrence of TAPVR diagnosed antenatally at 30 weeks of gestational age, with supradiaphragmatic TAPVR on fetal echocardiogram in a mother, whose first child was diagnosed with infradiaphragmatic TAPVR in infancy.
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PMID:Familial recurrence of congenital heart diseases. 2203 57

Congenitally corrected transposition of the great arteries (c-TGA) is a rare congenital heart disease usually diagnosed during childhood. Rarely, some patients remain undiagnosed and develop symptoms of heart failure during adulthood due to dysfunction of the left ventricle and systemic atrioventricular valve. We report on a 69-year-old male patient with a history of percutaneous coronary intervention and stent implantation for coronary artery disease and coronary artery anomaly, in whom diagnosis of c-TGA was missed.
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PMID:[Late diagnosis of corrected transposition of the great arteries in an elderly patient with coronary artery disease]. 2239 79

Patients with congenital heart disease (CHD) are at increased risk of cardiac arrhythmias. The utility of ambulatory (Holter) monitoring in predicting these arrhythmias remains unclear. We sought to evaluate the clinical utility and cost effectiveness of Holter monitoring in patients with CHD. A retrospective study of patients with CHD who had undergone Holter monitoring was performed. The Holter data from patients with tetralogy of Fallot (TOF), d-transposition of the great arteries (d-TGA) after an atrial switch operation, and patients with a single ventricle after Fontan palliation were reviewed. The Holter indication included evaluation of clinical symptoms or as a part of routine screening. The Holter results were deemed clinically significant if they resulted in a change in patient treatment. Sudden cardiac events included death or aborted sudden death and appropriate defibrillator therapies. A total of 589 Holter studies were performed in 189 patients (100 with TOF, 38 with d-TGA, and 51 with Fontan). The results of Holter monitoring performed for clinical symptoms had a low positive predictive value (0.08) for clinically significant changes in management. On routine monitoring, the sensitivity was low (0.40) but the negative predictive value was high (0.96) for future clinically significant arrhythmias. The frequency of clinically significant findings and associated cost-effectiveness improved with older patient age and Fontan and d-TGA CHD type. Nonsustained ventricular tachycardia was associated with sudden cardiac events in patients with TOF but not in those with d-TGA or Fontan palliation. In conclusion, Holter monitoring is generally inefficient for symptomatic evaluation; however, within specific age and CHD type subgroups, such as patients with repaired TOF >25 years old, it could be useful in clinical management and risk assessment as a part of routine care.
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PMID:Utility of ambulatory monitoring in patients with congenital heart disease. 2324 50

Disease causing mutations for heterotaxy syndrome were first identified in the X-linked laterality gene, ZIC3. Mutations typically result in males with situs ambiguus and complex congenital heart disease; however affected females and one male with isolated d-transposition of the great arteries (d-TGA) have been reported. We hypothesized that a subset of patients with heart defects common to heterotaxy but without laterality defects would have ZIC3 mutations. We also sought to estimate the prevalence of ZIC3 mutations in sporadic heterotaxy. Patients with TGA (n = 169), double outlet right ventricle (DORV; n = 89), common atrioventricular canal (CAVC; n = 41), and heterotaxy (n = 54) underwent sequencing of ZIC3 exons. We tested 90 patients with tetralogy of Fallot (TOF) to correlate genotype with phenotype. Three potentially disease-related missense mutations were detected: c.49G > T (Gly17Cys) in a female with isolated DORV, c.98C > T (Ala33Val) in a male with isolated d-TGA, and c.841C > T (His281Tyr) in a female with sporadic heterotaxy. We also identified a novel insertion (CPFP333ins) in a family with heterotaxy. All were absent in 200 control patients and the 1000 Genomes Project (n = 629). No significant mutations were found in patients with TOF. Functional studies demonstrated reduced transcriptional activity of the ZIC3 His281Tyr mutant protein. ZIC3 mutations were rarely identified in isolated DORV and d-TGA suggesting that a subset of DORV and d-TGA may fall within the spectrum of laterality defects. ZIC3 mutations were found in 3.7% of patients with sporadic heterotaxy; therefore testing should be considered in patients with heterotaxy.
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PMID:The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. 2466 79


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