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Results for “HEART DISEASE, CONGENITAL”

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At least 433 records · Page 24Linked to original sources
PubMed1993

Accelerated idioventricular rhythm in three newborn infants with congenital heart disease.

Accelerated idioventricular rhythm was observed in three newborn infants with congenital heart disease. This ventricular arrhythmia in all of our patients did not alter the clinical features of the congenital heart disease, and it disappeared at the ages of 84 days, 40 days, and 45 days, respectively. This arrhythmia is generally considered to be benign, which also appears to be the case with the newborn infant with congenital heart disease.

Age Factors↗
PubMed2006

Real-time color-flow CMR in adults with congenital heart disease.

CMR is valuable in the evaluation of congenital heart disease (CHD). Traditional flow imaging sequences involve cardiac and respiratory gating, increasing scan time and susceptibility to arrhythmias. We studied a real-time color-flow CMR system for the detection of flow abnormalities in 13 adults with CHD. All 16 congenital flow abnormalities previously detected by echocardiography were visualized using color-flow CMR, including atrial septal defects (n = 4), ventricular septal defects (n = 9), aortic coarctation (n = 1), Blalock-Taussig shunt (n = 1) and Fontan shunt (n = 1). Real-time color-flow CMR can identify intra- and extra-cardiac flow abnormalities in adults with congenital heart disease.

Adult↗
PubMed1999

[Arrhythmias in patients with congenital heart disease and their impact on prognosis].

Patients with congenital heart disease have an increased chance to suffer from brady- as well as tachyarrhythmias. The impact of these on quality of life, morbidity and mortality is more often imperative as compared to heart-healthy individuals. The substrate for these may be either congenital or acquired. Improvements of the surgical management of these patients have led, on the one hand, to improved survival rates with prolonged life expectancy within the last 2 decades, which on the other hand provided the basis for a higher rate of acquired cardiac arrhythmias. Together, this not only challenges diagnostics and therapy but also the prognostic relevance of these arrhythmias. The therapeutic strategies and prognostic markers have until now mostly been based on retrospective studies limited by the low number of patients and inhomogeneous patient selection. Despite these limitations, an increased risk of sudden cardiac death has been substantiated for certain patient groups, e.g., those operated on by the Mustard- or Senning procedures in patients with transposition of the great arteries and patients operated on with correction of the tetralogy of Fallot. However, until now it has not been possible to identify reliable markers for establishing the risk on an individual basis within these patient cohorts. For achieving reliable data on the symptomatic and prognostic effects of present-day--as well as new-coming--therapeutic strategies, it is mandatory to perform prospectively based, randomized multicenter studies. Furthermore, the well-appreciated synergism of hemodynamically and primarily of arrhythmia-based effects on prognosis could potentially be divided into their relative weight to better guide appropriate, substrate-related therapy. In addition, this should help to get better estimates of the risk for sudden cardiac death in different, etiologically homogeneous, groups of patients with congenital heart disease.

Arrhythmia, Sinus↗
PubMed2001

Survival with congenital heart disease and need for follow up in adult life.

OBJECTIVE: To predict the growth in demand for long term follow up of adults with congenital heart disease. DESIGN: Observed diagnoses of congenital heart disease in infancy and childhood were adjusted for observed infant survival, predicted further survival to age 16 years, underascertainment in older childhood, and predicted need for long term follow up. SETTING: The resident population of one health region in the UK. PATIENTS: All confirmed cardiovascular malformations diagnosed in 1985 to 1999 in children born in 1985 to 1994. RESULTS: 1942 cases of congenital heart disease were diagnosed in infancy in a population of 377 310 live births (5.2/1000). 1588 (82%) survived to 1 year and 1514 were predicted to survive to age 16. 605 further diagnoses were made in childhood-678 when adjusted for underascertainment. Thus, 2192 children were predicted to reach age 16, of whom 784 would require long term follow up in adult life. The adult population would comprise 28% complex, 54% significant, and 18% minor congenital heart disease. These figures predict the need for adult follow up of congenital heart disease of over 200 extra cases per 100 000 live births each year or over 1600 extra cases a year every year in the UK. CONCLUSIONS: The need for follow up of congenital heart disease in adult life is likely to grow linearly, with increasing complexity and increasing need for reinvestigation and reintervention with time. Appropriate provision should be made for adequate manpower, resources, and facilities for care of these patients.

Adolescent↗
PubMed2026

Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review.

BACKGROUND: Congenital heart disease (CHD) is the most common major congenital anomaly and a leading cause of infant morbidity and mortality. The rapid expansion of genomic technologies has accelerated the discovery of rare genetic variants implicated in CHD pathogenesis. However, most individuals with CHD still lack an identifiable molecular etiology. The purpose of this scoping review is to systematically characterize genes reported in the recent literature as candidate CHD-associated genes and contextualize these findings within the stages of cardiac morphogenesis. METHODS: PubMed was searched using predefined terms related to CHD and genetic variants, supplemented by a prospectively maintained internal database. We included human studies published between January 2023 and December 2025 that identified pathogenic, likely pathogenic, or uncertain monogenic variants in at least one patient with CHD. Animal-only studies, chromosomal abnormalities, copy number variants, multigenic associations, transcriptomic/proteomic analyses, reviews, and maternal-only genetic studies were excluded. Gene-disease validity classifications were assigned using the Clinical Genome Resource (ClinGen) CHD Gene Curation Expert Panel framework. RESULTS: Of 2,834 screened articles, 391 studies met inclusion criteria, identifying 912 unique genes reported as candidate CHD-associated genes. Frequently reported genes included PTPN11, NOTCH1, GATA4, JAG1, MYH6, GATA6, and LZTR1. Identified genes spanned all major stages of cardiogenesis, including developmental priming, cardiac progenitor specification, left-right axis formation, neural crest migration, outflow tract development, septation, and postnatal structural remodeling. Studies increasingly implicated ciliary dysfunction, transcriptional regulation, ribosomal biology, and multigenic inheritance in CHD pathogenesis. Emerging methodologies included stem cell-derived cardiac models, machine learning-based gene prioritization, and epigenetic analyses. CONCLUSIONS: Recent literature substantially expands the catalog of candidate genes that may be associated with CHD and highlights the biologic complexity underlying cardiac morphogenesis. Integration of genomic, developmental, and functional approaches will be essential to improve mechanistic understanding, refine genetic counseling, and support future precision medicine strategies for CHD.

Cardiac development↗
PubMed1995

Radiofrequency catheter ablation of paroxysmal supraventricular tachycardia in patients with congenital heart disease.

Radiofrequency catheter ablation was performed in 21 patients who had congenital heart diseases associated with accessory pathway (AP)-mediated tachycardia (14 patients), with atrioventricular (AV) nodal reentrant tachycardia (4 patients), with intraatrial reentrant tachycardia (1 patient), with coexistent AP mediated tachycardia and AV nodal reentrant tachycardia (1 patient) and with coexistent AV nodal reentrant tachycardia and atrial tachycardia (1 patient). Congenital heart diseases diagnosed were seven with Ebstein's anomaly and six with septal defect; the others included patent ductus arteriosus, supravalvular aortic stenosis and left superior vena cava-coronary sinus fistula. Incidence of multiple APs (26.7 vs. 7.7%, P = 0.027), antidromic tachycardia (20.0 vs. 2.9%, P = 0.011), tachyarrhythmia-related syncope (26.7 vs. 7.2%, P = 0.022) and cardiac arrest (13.3 vs. 0%, P = 0.001) was higher in patients with AP and congenital heart diseases. Longer procedure (3.9 +/- 0.7 vs. 2.4 +/- 1.3 h for AP, P = 0.001; 3.0 +/- 0.7 vs. 2.5 +/- 0.8 h for AV nodal reentrant tachycardia, P = 0.001), and radiation exposure times (102 +/- 27 vs. 35 +/- 23 min for AP, P = 0.001; 62 +/- 23 vs. 20 +/- 11 min for AV nodal reentrant tachycardia, P = 0.001) were necessary to achieve a high success rate (95%) in patients with congenital heart disease.

Adolescent↗
PubMed1994

First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography.

OBJECTIVE: To describe the feasibility of diagnosing fetal congenital heart defects by transvaginal ultrasonography during the first trimester of pregnancy. METHODS: Pregnant women presenting to the Ultrasonographic Unit at the Chaim Sheba Medical Center who had a diagnosis of fetal heart defects were reviewed retrospectively. Attention was paid to prenatal ultrasound studies, karyotype, and pathologic examinations. RESULTS: Using high-resolution transvaginal ultrasonography, we were able to detect fetal tachycardia (one case), ectopia cordis with ventricular septal defect (one case), atrioventricular septal defect (two cases), ventricular septal defect with persistent truncus arteriosus (one case), tetralogy of Fallot (two cases), and large right atrium with unguarded tricuspid valve (Uhl disease) (one case). Seven of these fetuses had normal karyotypes and all showed additional sonographic abnormalities, including septated cystic hygroma (three cases), hydrops (ascites and pericardial effusions) (two cases), omphalocele (one case), and bilateral agenesis of kidneys (one case). Only one fetus with an abnormal karyotype (45,XO) showed a combination of septated cystic hygroma with hydrops. CONCLUSIONS: High-resolution duplex Doppler transvaginal ultrasonography during the first trimester of pregnancy seems to be a useful diagnostic method for detecting some congenital heart diseases.

Abnormalities, Multiple↗
PubMed1995

Web neck anomaly and its association with congenital heart disease.

To investigate the relationship between congenital heart disease and jugular lymphatic obstruction as manifested in web neck anomaly, we used the Iowa Birth Defects Registry to determine the incidence of congenital heart defects (CHD) in infants with and without web neck. Sixty percent of infants with web neck had CHD, with a high incidence of flow-related defects such as hypoplastic left heart, coarctation, and secundum atrial septal defect. Sixty-eight percent of infants with web neck had a genetic syndrome (37% Down syndrome, 13% Ullrich-Turner syndrome, and 5% Noonan syndrome), and 24% had dysmorphic features consistent with lymphatic obstruction sequence. When infants with Down, Ullrich-Turner, and Noonan syndrome and web neck were compared to infants with the same syndrome but without web neck, those with web neck were significantly more likely to have flow-related heart defects. Infants with Ullrich-Turner syndrome and web neck had an 11-fold higher incidence of coarctation, compared to those with a normal neck. Our data suggests web neck is associated with both flow and nonflow-related heart defects. This association implies a pathogenetic relationship and appears to be independent of causal factors. The finding of web neck or nuchal cystic hygroma on a prenatal ultrasound or newborn examination should prompt a search for CHD.

Down Syndrome↗
PubMedDate not supplied

A survey of congenital heart disease in patients with oral clefts.

The purpose of this study is to determine the prevalence of congenital heart disease in patients with cleft lip and/or palate. We undertook a retrospective study of 1148 cases, age < 15 years old, with cleft lip and/or palate from January 1991 to December 1998, of which congenital heart disease was associated in 62 patients. The overall prevalence of congenital heart disease in patients with clefts was 5.4%. Of the 62 patients, there were 38 boys and 24 girls. We classified clefts into one of three categories; group 1: cleft lip alone; group 2: cleft lip and palate; group 3: cleft palate alone. The cleft lip and palate (group 2) was present in the majority (27 of 62; 44%) of patients with congenital heart disease. Twenty-five patients (40%) had cleft palate, and ten patients (16%) had cleft lip. Isolated atrial septal defect and ventricular septal defect are the two common congenital defects, which presented 23% and 21% of patients, respectively. Apart from congenital heart disease and cleft lip or palate, 56% (35 of 62 patients) and additional abnormalities. Central nervous system and skeletal malformations were the most common associated abnormalities. In our study, congenital heart disease was more common in patients of group 2 and group 3 than of group 1. In addition, there was a significantly greater proportion of patients associated with other systemic anomalies in groups 2 and 3 than in group 1 (chi-square chi 2 = 7.535, p = 0.023), but no significant difference was noted between group 2 and group 3. We recommend that it would be appropriate for all cleft patients to receive a routine examination for associated anomalies by a pediatrician. With the widespread use of echocardiography and/or brain sonography, the early diagnosis and treatment of these anomalies are possible.

Adolescent↗