Minor symptoms of depression in patients with congenital heart disease have a larger impact on quality of life than limited exercise capacity

Müller, Jan; Hess, John; Hager, Alfred

doi:10.1016/j.ijcard.2010.09.029

Cited by 72 publications

(63 citation statements)

References 32 publications

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“…Third, depression is also a common problem in adult patients with CHD, and may significantly affect their quality of life and late mortality. 31 The incidence of depression is reported to be higher in patients with repaired CHD, which may be underestimated by the difficulty of selecting appropriate diagnosis instruments. 32,33 In addition, undertreatment is common in these patients.…”

Section: Importance Of Unnatural Deathsmentioning

confidence: 99%

Long-Term Survival and Unnatural Deaths of Patients With Repaired Tetralogy of Fallot in an Asian Cohort

Chiu

Wang

Chen

et al. 2012

Circ: Cardiovascular Quality and Outcomes

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Background— Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease in Taiwan. This study investigates the long-term survival and risks of TOF in an Asian cohort. Methods and Results— This study enrolled 819 consecutive patients with TOF (61.1% male), who received total correction between 1970 and 2002, as participants. Patient medical records were reviewed, and the survival status of those out of contact was confirmed by death records retrieved from the National Health database. The mean (±SD) patient age at cardiac repair was 6.5±7.6 years, and a prior shunt operation was performed in 119 (14.5%) of the patients. At cardiac repair, a transannular patch for right ventricle outlet reconstruction was required in 444 (54.2%) of the patients. After 13 808 patient-years of follow-up, the 30-year survival rate was 90.5%. The annual mortality rate increased from 0.123% in the initial 15 years after repair to 0.395% thereafter ( P <0.05). The presence of major aortopulmonary collateral arteries, older operative age, and previous shunt operation are independent risks of late cardiac deaths. Secondary to cardiac mortality, unnatural deaths (accident and suicide) accounted for 27.6% of late deaths, significantly higher compared with that of the general population (odds ratio, 2.18; P =0.028). Conclusions— In this Asian TOF cohort, except for a late decrease after 15 years, long-term survival after cardiac repair was satisfactory. Although cardiac death was the most common cause of late death, accidents or suicide may also be associated with late mortality, suggesting a potential role for psychosocial support.

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Section: Importance Of Unnatural Deathsmentioning

confidence: 99%

Long-Term Survival and Unnatural Deaths of Patients With Repaired Tetralogy of Fallot in an Asian Cohort

Chiu

Wang

Chen

et al. 2012

Circ: Cardiovascular Quality and Outcomes

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“…Various cardiovascular developmental abnormalities, such as ventricular septal defect, atrial septal defect, tetralogy of Fallot, patent ductus arteriosis, atrioventricular septal defect, double outlet right ventricle, pulmonary stenosis, and transposition of great arteries, may occur individually or in combination. These anomalies may result in degraded quality of life, delayed fetal brain development, cardiac enlargement or hypertrophy, pulmonary hypertension, infective endocarditis, thromboembolism, Eisenmenger's syndrome, congestive heart failure, arrhythmias, as well as sudden cardiac death in the absence of surgical or catheter-based repairs (4)(5)(6)(7)(8)(9)(10). Despite the high prevalence and significant clinical importance, the molecular mechanism of CHD remains poorly understood (11).…”

Section: Introductionmentioning

confidence: 99%

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Huang

Xue

et al. 2014

International Journal of Molecular Medicine

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Abstract. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, with high morbidity and mortality rates. Accumulating evidence has demonstrated that genetic defects play an important role in the pathogenesis of TOF. However, the molecular basis of TOF in the majority of patients remains to be determined. In the present study, sequence analysis of the coding exons and exon-intron boundaries of GATA5, a gene encoding a zinc finger-containing transcriptional factor crucial for cardiogenesis, was performed on genomic DNA isolated from resected cardiac tissue and matched blood samples of 85 unrelated patients who underwent surgical repair of TOF. Genotyping was performed on the cardiac tissue and matched blood samples from 63 unrelated patients who underwent cardiac valve replacement due to rheumatic heart disease as well as the blood samples obtained from 200 unrelated healthy individuals. The functional effect of the mutations was evaluated by using a luciferase reporter assay system. As a result, the novel heterozygous GATA5 mutations, p.D203E and p.Y208X, were found in the cardiac tissues of two TOF patients, respectively. There were no mutations in the cardiac tissues obtained from 63 patients with rheumatic heart disease nor in the blood samples obtained from the 348 subjects. Functional analysis revealed that the GATA5 mutants were consistently associated with significantly decreased transcriptional activity compared with their wild-type counterpart. Thus, results of this study showed an association of somatic GATA5 mutations with TOF, providing further insight into the underlying molecular mechanism of TOF.

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“…Without surgical repair, 25% of TOF patients with severe obstruction succumb to the disease within the first year, 40% succumb to the disease by the age of 3, 70% by the age of 10, and 95% by the age of 40 (1)(2)(3). Various congenital cardiovascular anomalies, such as atrial septal defect, ventricular septal defect, atrioventricular septal defect, TOF, patent ductus arteriosus, double outlet right ventricle, aortic stenosis, and transposition of great arteries, can occur alone or together, leading to poor quality of life, cardiac enlargement or hypertrophy, ventricular dysfunction or failure, delayed fetal brain development, pulmonary hypertension, Eisenmenger's syndrome, arrhythmias, and even sudden cardiac death in the absence of surgical or catheterbased corrections (4)(5)(6)(7)(8)(9)(10). Despite the high prevalence and the important clinical significance, the etiology responsible for CHD remains to be identified in an overwhelming majority of patients (11)(12)(13).…”

Section: Introductionmentioning

confidence: 99%

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot

Huang

Xue

et al. 2012

International Journal of Molecular Medicine

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Abstract. Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease associated with significant morbidity and mortality in humans. However, the molecular etiology underlying TOF in most patients remains largely unknown. In the present study, sequence analysis of the GATA6 gene was performed from fresh-frozen cardiac tissues and matched blood samples of 52 unrelated patients who underwent surgical repair of TOF. The cardiac tissues and matched blood specimens from 46 patients who underwent cardiac valve replacement due to rheumatic heart disease and blood samples from 200 healthy individuals as controls were genotyped. The functional characteristics of the mutations were assessed using a luciferase reporter assay system. Based on the results, two novel heterozygous GATA6 mutations, p.G367X and p.G394C, were identified in the cardiac tissues of 2 TOF patients, respectively. No mutations were found in the cardiac tissues from 46 patients with rheumatic heart disease and in the blood samples from the 298 participants. Functional analysis demonstrated that the GATA6 mutants were consistently associated with significantly reduced transcriptional activation compared with their wildtype counterpart. This is the first report on the link of somatic GATA6 mutation to TOF, providing novel insight into the molecular mechanism involved in TOF.

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Minor symptoms of depression in patients with congenital heart disease have a larger impact on quality of life than limited exercise capacity

Cited by 72 publications

References 32 publications

Long-Term Survival and Unnatural Deaths of Patients With Repaired Tetralogy of Fallot in an Asian Cohort

Long-Term Survival and Unnatural Deaths of Patients With Repaired Tetralogy of Fallot in an Asian Cohort

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot

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