This review explores the quality of life of adult congenital heart disease patients and the relationship between disease severity and quality of life.

We searched seven electronic databases and the bibliography of articles. The 31 selected studies fulfilled the following criteria: adult population; quantitative; assessment of quality of life and/or impact of disease severity on quality of life using validated measures; English language. Data extraction forms were used to summarise the results.

There are evident methodological limitations within the reviewed studies such as heterogeneous populations, designs, and quality of life conceptualisations and measurements. Despite these problems, findings suggest that the quality of life of adult congenital heart disease patients is compromised in the physical domain compared with their healthy counterparts, whereas no differences were found in relation to the psychosocial and environmental/occupational domain. Some severity variables appear to be significant correlates of quality of life and could be considered in a future standardised classification of disease severity.

The methodological limitations of past research in relation to the definition and measurement of quality of life, the study designs, and disease severity classifications need to be addressed in future studies in order to provide robust evidence and valid conclusions in this area of study. This will enable the development of targeted interventions for the improvement of quality of life in the adult population of congenital heart disease patients.

We investigated extra-cardiac clinical symptoms and signs in the rare Jervell and Lange-Nielsen Syndrome, characterised by impaired KCNQ1 function, a gene essential for gastric acid secretion.

All Swedish Jervell and Lange-Nielsen cases with double KCNQ1 mutations (14 cases) were investigated by medical record review, an interview, and were offered laboratory testing for iron-deficiency anaemia and gastrointestinal markers.

A history of iron-deficiency anaemia in 12 of 14 patients and subjective gastrointestinal symptoms in 13 of 14 patients was revealed. Previous endoscopy in five cases had revealed no case of coeliac or inflammatory bowel disease but three cases of mucosal hyperplasia/dysplasia. Current signs of anaemia or iron substitution were present in 9 of 12 tested cases. Elevated levels of gastrin in seven of nine cases, pepsinogen in six of seven cases, and faecal calprotectin in nine of nine cases were present. A significant correlation between elevated gastrin levels and concurrent iron-deficiency and/or anaemia was revealed (p-value 0.039).

A high frequency of extra-cardiac clinical symptoms and previous medical investigations was found. We propose that the Jervell and Lange-Nielsen Syndrome phenotypically includes gastrointestinal symptoms/signs and secondary iron-deficiency anaemia owing to hypochlorhydria on the basis of KCNQ1 mutations. The resultant elevated gastrin level is a potential risk factor for later gastrointestinal cancer. Clinical monitoring with regard to developing anaemia and hypergastrinaemia should be considered in the Jervell and Lange-Nielsen Syndrome.

The fate of right ventricular dimensions after surgical closure of secundum-type atrial septal defects remains unclear. The objectives of this study were to assess ventricular dimensions, exercise capability, and arrhythmias of patients operated for secundum-type atrial septal defect and compare the results with those in healthy references.

A total of 78 consecutive patients underwent surgical closure for a secundum-type atrial septal defect between 1990 and 1995. In all, 42 patients were included and underwent a cross-sectional evaluation including echocardiography, magnetic resonance imaging, exercise testing, and 24-hour ambulatory electrocardiography. Patients were matched with healthy controls for gender, body surface area, and age.

The mean age at surgery was 4.6 plus or minus 2.8 years, and the mean age at follow-up was 16 plus or minus 3 years. There were no residual intracardiac lesions. The mean right ventricular end-systolic volume was significantly larger in patients (142 ± 26 millilitres) than in references (137 ± 28 millilitres; p = 0.04). In 25% of the patients, right ventricular end-systolic volume was larger than the 95th percentile for references. No relevant arrhythmias were detected. Exercise testing did not reveal differences with healthy references: maximal power (169 ± 43 Watt patients versus 172 ± 53 controls; p = 0.8), maximal oxygen uptake (38 ± 8 versus 41 ± 13 millilitres per minute per kilogram; p = 0.1).

After surgical closure of secundum-type atrial septal defect, right ventricular end-systolic volume is increased. These findings have no impact on rhythm status or exercise capacity at this stage of follow-up, but may have implications for the timing of surgery or the technique of closure if confirmed in longer follow-up.

To study the cardiac functions in Down syndrome children who did not have structural cardiac lesion by conventional and tissue Doppler echocardiography.

A total of 85 children with Down syndrome without anatomic heart disease and 50 normal control children were subjected to the assessment of right and left ventricular functions by both two-dimensional and tissue Doppler echocardiography.

Children with Down syndrome had significantly higher left ventricular ejection fraction detected by two-dimensional echocardiography and left ventricular diastolic dysfunction detected by tissue Doppler than observed in the controls. In addition, children with Down syndrome also had right ventricular systolic and diastolic dysfunctions. Children with Down syndrome had significantly higher pulmonary artery systolic pressure than the control children. There was no significant difference in the cardiac functions between children with non-disjunction Down syndrome and those with the translocation type.

Despite an apparently normal heart, children with Down syndrome may have silent disturbed cardiac functions, which may be detected by two-dimensional or tissue Doppler echocardiography. This may have an important clinical implication, especially before involving Down syndrome children in surgery or strenuous exercise.

Macrophage migration inhibitory factor and mannose-binding lectin-2 play important roles in the pathogenesis of several acute and chronic inflammatory/autoimmune disorders. The aim of the study was to investigate any possible association between migration inhibitory factor and mannose-binding lectin-2 gene polymorphisms and acute rheumatic fever in children.

A total of 38 unrelated children with acute rheumatic fever and 40 age- and sex-matched healthy controls were analysed for codon 54 A/B polymorphism in mannose-binding lectin-2 gene and −173 G/C polymorphism in migration inhibitory factor gene by using the polymerase chain reaction method.

Frequency of BB genotype of mannose-binding lectin-2 gene was higher in the patient group. Interestingly, children with acute rheumatic fever with AA genotype tended to have chorea compared with children with BB genotype. There was a statistically significant increase in frequency of the migration inhibitory factor −173 CC genotype in patients compared with the control subjects.

The present study is the first to investigate the mannose-binding lectin-2gene polymorphism in children with acute rheumatic fever. BB genotype of mannose-binding lectin-2 (codon 54) and CC genotype of migration inhibitory factor (−173) may have a role in the immunoinflammatory process of acute rheumatic fever.

A superior cavopulmonary connection is commonly performed before the Fontan procedure in patients with a functionally univentricular heart. Data are limited regarding associations between a prior superior cavopulmonary connection and functional and ventricular performance late after the Fontan procedure.

We compared characteristics of those with and without prior superior cavopulmonary connection among 546 subjects enrolled in the Pediatric Heart Network Fontan Cross-Sectional Study. We further compared different superior cavopulmonary connection techniques: bidirectional cavopulmonary anastomosis (n equals 229), bilateral bidirectional cavopulmonary anastomosis (n equals 39), and hemi-Fontan (n equals 114).

A prior superior cavopulmonary connection was performed in 408 subjects (75%); the proportion differed by year of Fontan surgery and centre (p-value less than 0.0001 for each). The average age at Fontan was similar, 3.5 years in those with superior cavopulmonary connection versus 3.2 years in those without (p-value equals 0.4). The type of superior cavopulmonary connection varied by site (p-value less than 0.001) and was related to the type of Fontan procedure. Exercise performance, echocardiographic variables, and predominant rhythm did not differ by superior cavopulmonary connection status or among superior cavopulmonary connection types. Using a test of interaction, findings did not vary according to an underlying diagnosis of hypoplastic left heart syndrome.

After controlling for subject and era factors, most long-term outcomes in subjects with a prior superior cavopulmonary connection did not differ substantially from those without this procedure. The type of superior cavopulmonary connection varied significantly by centre, but late outcomes were similar.

Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis.

We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes.

The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy.

Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.