Types Of Heart Defects Research Articles

Retrospective analysis of prenatal echcardiography findings in cases of congenital heart defects: comparison with postnatal pulmonary hypertension revealed by lungs histopathology (2010-2015)

Abstract Introduction: It was retrospective analysis of prenatal echocardiography findings in fetuses with congenital heart defects, who died in our institution and had an autopsy exams in years 2010 - 2015. Material and methods: Among total 115 deaths the pulmonary hypertension based on histopathology criteria was present in 83 cases (72%) as a leading cause of their deaths. Out of 83 neonates 40 underwent prenatal echo, 43 did not, however in both groups there were similar types of heart defects. Results: The prenatal echo findings from study group (n=40), from the last echo before the delivery were compared with control group and group of HLHS who did survive neonatal surgery and were discharged from hospital. There were statistical differences between pulmonary artery/aorta ratio in fetuses in control group and fetuses in study group („pulmonary hypertension” after birth) (p=0,044). There were statistical differences between pre-delivery pulmonary artery/aorta ratio in fetuses in study group (with „pulmonary hypertension” after birth) and in group of fetuses with HLHS, alive & well after first surgery (p=0,027). There were no differences between pulmonary artery/ aorta ratio fetuses in control group and fetuses with HLHS, alive & well after first surgery (p=0,38) Conclusion: 1) Pulmonary hypertension was a frequent cause of neonatal deaths among our series of congenital heart defects 2) Dilatation of pulmonary artery (and increased pulmonary/artery ratio ) in fetal echo just before delivery may be an important risk factor for poor neonatal outcome in congenital heart defects.)

Understanding the morphology of the specialized conduction tissues in congenitally malformed hearts.

To repair congenital heart defects by means of open heart surgery, the surgeon needs guidance about the location and distribution of the specialized conduction tissues, in order to avoid their direct damage and consequent conduction disturbances. This review addresses the historical steps of the morphological study of the conduction system in different types of heart defects, providing updated information about the subject.

Cardiology patient page. Neurodevelopmental outcomes in congenital heart disease.

As improved treatments for congenital heart disease (CHD) have increased life expectancy, neurodevelopmental impairments have been observed in many survivors. These impairments include developmental delays, difficulty in school, and challenges living independently. Understanding the causes of these impairments and minimizing their impact are important goals to allow survivors to have the best possible quality of life. CHD may affect the brain in several ways. First, the heart pumps blood that carries nutrients and oxygen to the brain to allow it to grow and develop. Some types of CHD may reduce the amount of blood reaching the brain or the oxygen content of the blood. Starting in the fetal period, reduced blood flow and oxygen content may impede brain maturation. Indeed, full-term babies with some types of heart defects have brain maturity that is about 1 month delayed (ie, similar to those of premature babies born at 36 weeks).1 Brain injury may also occur in CHD. Brain immaturity increases the risk of brain injury with stresses such as labor and delivery, blood pressure instability, or infection. White matter, a tissue connecting different regions of the brain, is particularly vulnerable to injury. White matter injury …

Vocational challenges in congenital heart disease

Despite advances in prenatal detection and counselling, congenital heart disease remains the most common type of congenital disease. In the last decades, treatment results in children have shown spectacular improvements, even in the most complex types of congenital heart disease. At present, the overall mortality rate for paediatric congenital heart surgery in the Netherlands is <2 %. The decline in mortality from this type of disease has resulted in an increasing number of adults with congenital heart disease. The national database for adult congenital heart disease, ConCor, currently has 14,860 people registered and it is estimated that many thousands of these patients have been lost to follow-up. Recent research has shown that older children and young adults who have been treated for congenital heart disease are generally in good clinical condition. For patients treated with recent modifications of common treatment strategies, it has been demonstrated that exercise performance and cardiac function are relatively well preserved. The risk of developing arrhythmias is low in these patients. For patients well into the adult age range, who may have been treated according to outdated concepts and/or strategies, this may be highly different [1]. The consequence of the impressive advances is that medical professionals involved in the care of patients with congenital heart disease have increasingly started to realise that the focus of care may need to be shifted away from preventing mortality to optimising quality of life. Remarkably, medical advances have not clearly improved health-related quality of life in children so far [2]. Quality of life is an ambiguous concept. Consensus about its definition is lacking. This is reflected in the literature on the subject of quality of life in congenital heart disease, which has shown diverse and sometimes conflicting results [3]. Quality of life is hampered by physical limitations, repeat surgery and the need for ICD implantation. Most, but not all, studies have agreed on the limited role of the type of heart defect on quality of life [3]. This is remarkable, since physical performance and the risk for arrhythmias are clearly related to the type of heart defect [1]. This discrepancy underlines the notion that quality of life has a multifactorial origin [3]. An important aspect that contributes to quality of life is the ability to maintain stable relationships. A study in a large random sample derived from the ConCor registry showed that young adult patients (<40 years old) with congenital heart disease were less likely to be in a relationship compared with the reference group [4]. Positive associations with quality of life have been shown for daily activity levels, academic performance and employment rate. Unfortunately, employment rates are lower for patients with congenital heart disease than for healthy peers. A large study using the ConCor registry has shown that adults with congenital heart disease are more likely to have a lower education level and are unemployed more often [4]. Another Dutch longitudinal study with 20–33 years of follow-up demonstrated impairments in living situation, occupational and educational status, which were related to the severity of the congenital heart defect [5]. Neuropsychological problems, often subtle, have been described extensively for children and adolescents with congenital heart disease. Considering these neuropsychological impairments, limitations in occupational status were to be expected. On a highly practical level, the study by Sluman et al. in the current issue of the journal aimed to study factors experienced as barriers or facilitators of employment in patients with congenital heart disease [6]. By means of structured interviews with 15 employed congenital heart patients these factors were explored. In 5 of the 15 patients the presence of congenital heart disease had been an important factor in vocational planning. Physical aspects, such as work load, lack of opportunity for recovery (finding the proper balance between work and rest) and relationships with employers were among the most important barriers. Facilitators for employment were less physically demanding work, job autonomy, adequate balance between work and private life and perceived support from colleagues and employer. The study provides a background to develop effective measures that can be used to help patients with congenital heart disease achieve stable employment-related satisfaction, which relates to quality of life. Ultimately the goal of this type of study is to come up with strategies to empower patients with congenital heart disease. The immense successes of the treatment of these patients should be extended to successful integration of patients with cured but also with chronic congenital heart disease in all aspects of social life, allowing them career choices with as few limitations as possible.

Stillbirth: The heart of the matter

We evaluated 2,083 cases within the Wisconsin Stillbirth Service Program (WiSSP) that had autopsy reports or ultrasound data relevant to the heart. Of these, 167/1,782 (9.4%) stillbirths after 20 weeks and 11/301 (3.7%) miscarriages <20 weeks had congenital heart disease (CHD). Cases were classified by type of heart defect and whether it related to cause of death. Among cardiac anomalies that contributed significantly to fetal death, 125/151 (83%) were associated with underlying conditions or syndromes, nearly half of which were chromosomal. The most common forms of CHD in stillborns were severe cyanotic lesions (3%), then ventricular (2.6%) and atrial (1.9%) septal defects. Compared to livebirths, this represents a shift toward more severe cardiac lesions, although all comparable categories, including non-lethal conditions such as atrial septal defect, are more common in stillbirths. Clinical cardiomyopathy was identified as cause of death in 1.2% of stillborns. Cardiomegaly, occurring in 26.7% of all cases and 76.7% of infants born to diabetic mothers, may represent undiagnosed cardiomyopathy and/or may decrease fetal tolerance of hypoxia. In contrast, 78.5% of Turner syndrome infants, all <32 weeks, had small hearts. More attention to cardiac findings can lead to increased understanding of stillbirth causes. Based on our findings, we recommend chromosome studies on all stillbirths and close attention to the heart during second trimester ultrasounds, with chromosome studies offered if CHD is found. Consideration of heart size can result in prenatal identification of infants at risk for stillbirth, particularly large hearts in fetuses of diabetic mothers in the third trimester, which may identify fetal cardiomyopathy before it becomes life-threatening.

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

Specific association of missense mutations in <i>CRELD1</i> with cardiac atrioventricular septal defects in heterotaxy syndrome

Risk of congenital heart defects is influenced by genetic variation in folate metabolism

Genetic disturbances in folate metabolism may increase risk for congenital heart defects. We examined the association of heart defects with four polymorphisms in folate-related genes (methylenetetrahydrofolate reductase (MTHFR) c.677C.T, MTHFR c.1298A.C, methionine synthase reductase (MTRR) c.66A.G, and reduced folate carrier (SLC19A1) c.80A.G) in a case-control study of children (156 patients, 69 controls) and mothers of children with heart defects (181 patients, 65 controls), born before folic acid fortification. MTRR c.66A.G in children modified odds ratios for overall heart defects, specifically ventricular septal defect and aortic valve stenosis (p-value below 0.05). The 66GG and AG genotypes were associated with decreased odds ratios for heart defects (0.42, 95% confidence interval (0.18-0.97) and 0.39 (0.18-0.84), respectively). This overall association was driven by decreased risk for ventricular septal defect for 66GG and AG (odds ratio 0.32 (0.11-0.91) and 0.25 (0.09-0.65)) and decreased odds ratio for aortic valve stenosis for 66AG (0.27 (0.09-0.79)). The association of ventricular septal defect and 66AG remained significant after correction for multiple testing (p = 0.0044, multiple testing threshold p = 0.0125). Maternal MTHFR 1298AC genotype was associated with increased odds ratio for aortic valve stenosis (2.90 (1.22-6.86), p = 0.0157), but this association did not meet the higher multiple testing threshold. No association between MTHFR c.677C.T or SLC19A1 c.80A.G and heart defect risk was found. The influence of folate-related polymorphisms may be specific to certain types of heart defects; larger cohorts of mothers and children with distinct sub-classes are required to adequately address risk.

Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System

Congenital heart defects (CHDs) are the most common type of congenital anomaly, with a wide range of reported birth prevalence estimates. This quality assurance study describes CHD case ascertainment by the Alberta Congenital Anomalies Surveillance System (ACASS). ACASS data for CHD cases were compared with additional sources including the two Pediatric Cardiology clinics in Alberta, the Alberta Children's Hospital Department of Pathology, and hospital records. Cases included live births, stillbirths, and fetal deaths at less than 20 weeks' gestation born in Alberta, Canada, between 1995 and 2002. The birth prevalence of cases and chi-square linear trend analyses were calculated for specific types of heart defects for the total study period. The ascertainment of CHD cases by ACASS was 45%. The total prevalence of CHD cases was 5.59 per 1000 total births (TBs; 95% confidence interval [CI], 5.32-5.86) when ACASS was the only data source and increased to 12.42 per 1000 TBs (95% CI, 12.03-12.83) when all data sources were used. Although the total prevalence of CHD cases remained stable during 1995 to 2002, the prevalence of atrial septal defect (ASD) and cases with an ASD and ventricular septal defect (VSD) significantly increased. The prevalence of left ventricular outflow tract obstruction cases significantly decreased during the study period. Pediatric cardiology clinics are worth including as additional ascertainment sources to contribute to more accurate prevalence estimates. The significant increases of ASD and cases with both an ASD and VSD may reflect differences in diagnostic and ascertainment practices.

The Evaluation of Diagnostic Role of Cardiac Troponin T (cTnT) in Newborns with Heart Defects

Heart diseases are a significant cause of morbidity and mortality in newborns. Diagnostic methods are often not sufficient or, in many cases, cannot be used. There is a great advance in medical knowledge concerning biomarkers in the diagnosis of circulatory system in adult patients. Among them, cardiac troponins play the main role. In current literature, there is not enough data concerning the possibility of using them in neonatal cardiac diagnostics. Aim of the Study. To evaluate diagnostic usefulness of cTnT in correlation with other markers of circulatory failure and myocardial damage in newborns with heart defects. Patients and Methods. The study involved 83 newborns up to 46 weeks of postmenstrual age. The exclusion criteria were severe perinatal asphyxia and presence of severe noncardiac diseases. Patients were divided into 2 main groups: group I—54 patients with congenital heart defects (CHDs), and group II (control)—29 healthy neonates. All patients underwent detailed examination of circulatory system. Cardiac troponin T (cTnT) concentrations were evaluated by Roche CARDIAC T Quantitive test. Results. Performed studies revealed that cTnT levels in newborns with heart pathology were significantly higher than in healthy ones. However, cTnT concentrations in patients with CHD did not correlate with clinical symptoms of heart failure, nor with echocardiographic markers of LV function. Type of heart defect did not influence cTnT levels as well. Only hemodynamic significance evaluated by echocardiography influenced the cTnT levels with statistical significance. Conclusions. (1) Statistically significant differences in cTnT levels between newborns with heart defects and healthy subjects were shown. (2) CTnT levels in newborns with heart defects refer only to hemodynamic significance of the defect.

Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus–associated birth defects

The purpose of this study was to examine the risk of birth defects in relation to diabetes mellitus and the lack of use of periconceptional vitamins or supplements that contain folic acid. The National Birth Defects Prevention Study (1997-2004) is a multicenter, population-based case-control study of birth defects (14,721 cases and 5437 control infants). Cases were categorized into 18 types of heart defects and 26 noncardiac birth defects. We estimated odds ratios for independent and joint effects of preexisting diabetes mellitus and a lack of periconceptional use of vitamins or supplements that contain folic acid. The pattern of odds ratios suggested an increased risk of defects that are associated with diabetes mellitus in the absence vs the presence of the periconceptional use of vitamins or supplements that contain folic acid. The lack of periconceptional use of vitamins or supplements that contain folic acid may be associated with an excess risk for birth defects due to diabetes mellitus.

Temporal Trends in Survival to Adulthood Among Patients Born With Congenital Heart Disease From 1970 to 1992 in Belgium

Over the past decades, the life expectancy of individuals with congenital heart disease (CHD) has increased significantly. However, precise estimates for survival to adulthood are scarce for patients with CHD. We investigated the proportion of CHD patients born between 1990 and 1992 who survived into adulthood. We also compared their survival with that of CHD patients born in earlier eras and evaluated survival as a function of the type of heart defect. We reviewed the CHD program administrative and clinical database at the University Hospitals Leuven (Leuven, Belgium) and analyzed the records of 7497 CHD patients born from 1970 to 1992. Survival to 18 years of age in patients born between 1990 and 1992 was 88.6% (95% confidence interval [CI], 86.3% to 90.5%), which was significantly greater than that of patients born in previous decades (P<0.0001). For patients born between 1990 and 1992, survival into adulthood for those with mild heart defects was 98.0% (95% CI, 95.8% to 99.1%), whereas survival for those with moderate- and severe-complexity heart defects was 90.0% (95% CI, 86.8% to 92.5%) and 56.4% (95% CI, 47.4% to 64.5%), respectively. Analysis per heart defect confirmed these findings, demonstrating that patients with univentricular heart (49.1% [95% CI, 30.8% to 65.1%]) and hypoplastic left heart syndrome (7.5% [95% CI, 0.6% to 26.6%]) had the poorest survival rate. This study demonstrates that almost 90% of children with CHD have the prospect of surviving into adulthood.

Children with corrected or palliated congenital heart disease on home mechanical ventilation

Infants and children with surgically corrected or palliated congenital heart disease (CHD) are at risk for chronic respiratory failure, necessitating home mechanical ventilation (HMV) via tracheostomy. However, very little data exists on this population or their outcomes. We conducted a retrospective chart review of all children with CHD enrolled in the Childrens Hospital Los Angeles HMV program between 1994 and 2009. Data were collected on type of heart lesion, surgeries performed, number of failed extubations, timing of tracheostomy, mortality, length of time on HMV, weaning status, associated co-morbidities, and Risk Adjusted classification for Congenital Heart Surgery (RACHS-1) category. Thirty-five children were identified; six with single ventricle anatomy, who received palliative procedures. Twenty-three (66%) patients are alive; 8 (23%) living patients have been weaned off HMV. Twelve (34%) patients are deceased. The incidence of mortality for single ventricle patients was 50%, and only one of the surviving children has received final palliation and weaned off HMV. Eight of nine patients (89%) with a RACHS score > or =4 died, and none have been weaned off of HMV. The 5-year survival for all CHD HMV patients was 68%; 90% for patients with RACHS < or =3; and 12% for patients with score > or =4. Children with more complex lesions, as demonstrated by single ventricle physiology or greater RACHS scores, had higher mortality rates and less success weaning off HMV. This case series suggests that caregivers should give serious consideration to the type of heart defect as they advise families considering HMV in children with CHD.

Study Participation and Nonresponse in a Population of Adolescents and Adults with Operated Congenital Heart Disease (GUCH Patients)

A group of patients after surgery of congenital heart defects was examined as to whether participants and nonparticipants (refusers, nonresponders, moved away, and deceased subjects) differed in terms of the type of congenital heart disease, the type of surgery (curative, reparative, and palliative), age and gender. A group of 698 subjects between 15 and 45 years were invited to participate in a study where a standardized interview was combined with a series of medical examinations. Finally, 361 patients participated, 121 explicitly refused, 92 did not respond, 91 had moved away, and 33 had died. Comparing participants and nonparticipants at the level of bivariate analyses using type of surgery, type of congenital malformation, gender, and age did not yield statistically significant differences. The final analysis using multivariate logistic regression revealed that individuals who underwent palliative treatment, the most severe type of surgery, had the same likelihood of not participating than patients with curative treatment. Classifying patients by the type of heart defect did not reveal group differences in the likelihood to participate. No differences for gender and age emerged. The analyses have shown that a worse health status may not lead to nonparticipation. As a consequence, we may conclude that selective nonparticipation because of the measures considered may not have occurred, and the likelihood for obtaining biased results can be considered as low.

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

Microdeletions within chromosome 22q11.2 cause a variable phenotype, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). About 97% of patients with DGS/VCFS have either a common recurrent approximately 3 Mb deletion or a smaller, less common, approximately 1.5 Mb nested deletion. Both deletions apparently occur as a result of homologous recombination between nonallelic flanking low-copy repeat (LCR) sequences located in 22q11.2. Interestingly, although eight different LCRs are located in proximal 22q, only a few cases of atypical deletions utilizing alternative LCRs have been described. Using array-based comparative genomic hybridization (CGH) analysis, we have detected six unrelated cases of deletions that are within 22q11.2 and are located distal to the approximately 3 Mb common deletion region. Further analyses revealed that the rearrangements had clustered breakpoints and either a approximately 1.4 Mb or approximately 2.1 Mb recurrent deletion flanked proximally by LCR22-4 and distally by either LCR22-5 or LCR22-6, respectively. Parental fluorescence in situ hybridization (FISH) analyses revealed that none of the available parents (11 out of 12 were available) had the deletion, indicating de novo events. All patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve. A single patient had a cleft palate. We conclude that distal deletions of chromosome 22q11.2 between LCR22-4 and LCR22-6, although they share some characteristic features with DGS/VCFS, represent a novel genomic disorder distinct genomically and clinically from the well-known DGS/VCF deletion syndromes.

The MTHFR 677C-&gt;T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis

Periconceptional folic acid supplementation may protect against congenital heart defects (CHDs). Identification of candidate genes in folate metabolism has suggested that the 677C-->T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene may be particularly associated with the risk of CHDs. To assess the relationship between MTHFR 677C-->T and CHDs by literature review and meta-analysis. Studies were identified by searches of electronic literature for papers focussing on MTHFR 677C-->T and the risk of any type of CHD. Both case-control comparisons and transmission-disequilibrium tests (TDTs) in family-based designs were included. We found 13 eligible studies. Of 10 case-control studies, four focused on the fetal polymorphism, two studied the maternal polymorphism, and a further four investigated both. Three further publications used a family-based association study to assess the effect of the T allele on cardiac development. Overall analysis yielded odds ratios of 1.3 (95%CI 0.97-1.73) and 1.2 (95%CI 0.83-1.74) for fetal and maternal MTHFR TT genotypes, respectively. TDTs revealed no association between fetal 677T allele and CHDs. This relatively small meta-analysis found no substantial evidence of increased CHD risk in individuals with MTHFR 677CT and TT genotypes. Heterogeneity regarding population background, study design and type of heart defects complicates the pooling and comparison of the studies. The effect of modification by periconceptional folic acid intake should be taken into account. Further larger studies and well-defined phenotypic subcategory analyses are needed to decide whether the MTHFR 677C-->T polymorphism of the affected child and/or their mother is truly a risk factor for the development of CHDs.

Evaluation of the general practice research database congenital heart defects prevalence: Comparison to United Kingdom national systems

As part of an effort to validate the General Practice Research Database (GPRD) for future studies of medication use in pregnancy, this study examined whether the rates of all, and specific types of, congenital heart defects obtained from the GPRD are similar to those obtained from UK national systems. The prevalence rates of heart defects for 2001-2003 were determined from the GPRD and compared with both the National Congenital Anomaly System (NCAS) and the European Concerted Action of Congenital Anomalies and Twins (EUROCAT). Rate ratios (RRs) and 95% CIs were calculated comparing the prevalence of all congenital heart defects as well as specific types of heart defects in the three data sources. In addition, the effect of the child's age on the frequency of heart defects in the GPRD was determined. The prevalence of heart defects in the GPRD was more than twice as high as in the NCAS and slightly higher than in the EUROCAT. All differences were statistically significant. The prevalence of specific heart defects varied across the GPRD, NCAS, and EUROCAT. The measured prevalence of congenital heart defects in the GPRD was higher if calculated including children up to age 6. The comparisons of the GPRD prevalence rates to national prevalence estimates demonstrate that the GPRD can serve as a more complete source of background prevalence for the most commonly occurring congenital heart defects, which is essential to properly assess possible associations between maternal exposures and congenital heart defects.

11 Modifier Genes in the Pathogenesis of Congenital Heart Disease.

Introduction. Mutations of the transcription factor Nkx2–5 cause serious congenital heart disease (CHD) in man, but only minor abnormalities have been reported in heterozygous knockout mice (Nkx2–5+/−). The incidental discovery of a large VSD in one mouse suggested the hypothesis that Nkx2–5+/− mice do develop significant CHD, the pathogenesis of which is determined in part by modifier genes.Methods. Nkx2–5+/− mice in the C57Bl/6 background were crossed to the FVB/n or A/J strain to test for effects of mixed genetic backgrounds. The F1 progeny were intercrossed or crossed back to C57Bl/6 to determine patterns of inheritance of modifier genes in the F2 progeny. Neonatal hearts were serially sectioned to identify congenital heart defects.Results. Nkx2–5+/− and wild-type mice in the C57Bl/6 background deviated from the expected Mendelian distribution (n = 654; p = 0.003); 15–20% of the heterozygotes were missing at weaning. Of 23 Nkx2–5+/− C57Bl/6 near-term or newborn hearts two had moderate to large VSDs, and one had aortic coarctation, which would cause perinatal lethality. Five had ASDs. In contrast, the exact Mendelian ratio was obtained from a C57Bl/6 x FVB/n cross (N=545), and Nkx2–5+/− F1 hearts were all structurally normal (N=29). In the C57Bl/6 x A/J F1 progeny, 2/41 Nkx2–5+/− hearts had ASDs. In the C57Bl/6 x FVB/n F2 back- and intercrosses, 8 VSDs but no ASDs were found among ∼150 Nkx2–5+/− hearts. In the C57Bl/6 x A/J F2 back- and intercrosses, 2 VSDs but no ASDs were found among 28 hearts. Wild-type hearts in all strain backgrounds were normal (N=50).Conclusion. Nkx2–5 mutation can cause significant CHD in humans and mice. Inbred strain crosses indicate that modifier genes affect the pathogenesis. The results suggest that homozygosity of a C57Bl/6 allele, which is polymorphic in FVB/n, contributes to the development of VSDs, whereas multiple modifier genes are involved in ASDs. The same or an entirely different VSD locus may also be polymorphic between C57Bl/6 and A/J. The ASD modifiers are polymorphic between C57Bl/6 and FVB/n and identical or similar between C57Bl/6 and A/J. The relative number of genes involved can explain why VSDs are more common than ASDs or other types of heart defects in man.

Nitric Oxide in the Evaluation of Congenital Heart Disease with Pulmonary Hypertension: Factors Related to Nitric Oxide Response

Inhaled nitric oxide (NO) has been used in the preoperative evaluation of patients with congenital heart disease and pulmonary hypertension. The purpose of this study was to characterize responses in pulmonary vascular resistance (PVR) to oxygen and increasing doses of NO during cardiac catheterization and to determine if any related factors affect the response of the pulmonary vascular bed to NO. A prospective analysis of 42 patients (median age, 3.0 years) with congenital heart disease and pulmonary hypertension who underwent NO testing was performed. Systemic vascular resistance (SVR) and PVR were assessed in room air, 100% oxygen, and oxygen plus 20, 40, and 80 parts per million (ppm) NO. Changes in pulmonary artery pressure, PVR, and SVR were assessed. The response to NO was then correlated to individual patient's age, gender, type of heart defect, the presence of trisomy 21, and baseline PVR/SVR. There was a greater decrease in PVR and PVR/SVR with 20 ppm NO than with oxygen alone. There was no additional decrease at 40 or 80 ppm NO. There was no correlation between age, gender, type of congenital heart disease, and baseline PVR/SVR ratio with the degree of response to NO. Patients with trisomy 21 had less of a response to NO (p = 0.017) than patients without trisomy 21. There is no difference in determining PVR response with doses of NO beyond 20 ppm during cardiac catheterization. Age, gender, and baseline PVR/SVR ratio are not associated with responsiveness to NO. Patients with trisomy 21 may be less responsive to NO.

Características prenatales del síndrome de Turner

Aim The presentation of Turner's syndrome in the fetus is very different from that observed postnatally. The aim of this study was to compare the pre and postnatal features of this syndrome, mainly the nature of the karyotype and the incidence and type of heart defects, and to examine outcome after prenatal diagnosis. Subjects and methods Thirty-nine fetuses with Turner's syndrome were examined echocardiographically between 1990 and 2003. Of these, 34 had a complete monosomy X (87%). In 36/39 fetuses extracardiac abnormalities were observed on ultrasound scan (92%). Results The mean gestational age at echocardiographic examination was 14 weeks. A cardiac defect was detected in 15/39 (39%) fetuses. The most common diagnosis was coarctation of the aorta in 8/39 (21%) fetuses, followed by hypoplastic left heart syndrome in 5/39 (13%) fetuses. The incidence of heart defects was higher in fetuses with an abnormal ductus venosus waveform. Echocardiography was normal in the four fetuses with mosaic karyotype. The pregnancy was terminated in 33/39 (85%) cases and intrauterine death occurred in five cases (13%). There was one survivor with complete monosomy X and without gross structural abnormalities. Conclusions Most fetuses with prenatally diagnosed Turner's syndrome have a complete monosomy X and in almost all there are abnormalities on ultrasound scan that lead to diagnosis. Compared with postnatal series, heart defects are more frequent and severe in these fetuses. All these features explain the poor prognosis associated with prenatal diagnosis of this chromosomal disorder. Fetal echocardiography allows accurate diagnosis of most heart defects. The probability of cardiac disease increases when an abnormal ductus venosus waveform is found.

Cardiac anomalies in patients with congenital diaphragmatic hernia and their prognosis: a report from the Congenital Diaphragmatic Hernia Study Group

Background/Purpose Patients with congenital diaphragmatic hernia (CDH) are known to have associated cardiac anomalies. Data from the Congenital Diaphragmatic Hernia Study Group has allowed better definition of the types of heart defects (HDs) and survival for these patients. Methods Since 1995, 2636 patients were enrolled in the Congenital Diaphragmatic Hernia Study Group from 82 centers. Patients with hemodynamically significant HD, excluding patent ductus arteriosus (PDA); patent foramen ovale (PFO); and atrial septal defect (ASD), were selected. Cardiac anatomy and survival data for all patients were reviewed. Results Two hundred eighty (10.6%) patients had significant HDs: ventricular septal defect (VSD); (42.2%), aortic arch obstruction (15%), univentricular anatomy (13.9%), tetralogy of Fallot variants (11.1%), total anomalous pulmonary venous return (3.9%), double outlet right ventricle (RV) (3.2%), pulmonary stenosis (2.5%), transposition of the great arteries (2.5%), and various other defects in 5.7%. Survival for the entire group was 67.1%; survival for patients without HD was 70.2% and for patients with HD was 41.1% ( P < .001). Patients with biventricular cardiac anatomy had a 47% survival, whereas those with univentricular anatomy had a 5% survival ( P < .001). Conclusion Significant HD is associated with 10.6% of CDH. Survival for patients with HD is significantly lower than for patients with normal cardiac anatomy. Patients with CDH and univentricular cardiac anatomy have a poor prognosis.