Exercise performance and quality of life is more impaired in Eisenmenger syndrome than in complex cyanotic congenital heart disease with pulmonary stenosis

Müller, Jan; Hess, John; Hager, Alfred

doi:10.1016/j.ijcard.2010.04.005

Cited by 47 publications

(51 citation statements)

References 32 publications

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“…European registry data suggest a prevalence of APAH in about 4-10% of adult CHD-patients [1, 3,4]; up to 25-50% develop an Eisenmenger Syndrome (ES) [5]. Patients with CHD-APAH had identical histological findings as idiopathic PAH (IPAH) [6] and revealed a markedly reduced exercise capacity and quality of life [4,7]. ES had the worst exercise capacity compared to other forms of CHD-APAH [7].…”

Section: Introductionmentioning

confidence: 99%

“…Patients with CHD-APAH had identical histological findings as idiopathic PAH (IPAH) [6] and revealed a markedly reduced exercise capacity and quality of life [4,7]. ES had the worst exercise capacity compared to other forms of CHD-APAH [7]. All-cause mortality risk was more than 2-fold higher for CHD-patients with APAH compared with those without [8].…”

Section: Introductionmentioning

confidence: 99%

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Efficacy of exercise training in pulmonary arterial hypertension associated with congenital heart disease

Becker-Grünig¹,

Klose²,

Ehlken³

et al. 2013

International Journal of Cardiology

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BACKGROUND: The objective of this prospective study was to assess the efficacy of exercise training as add-on to medical therapy in patients with congenital heart disease associated pulmonary arterial hypertension (CHD-APAH). METHODS: Patients with invasively confirmed CHD-APAH received in-hospital exercise training for 3weeks and continued at home. Efficacy parameters were evaluated at baseline, after 3 and 15weeks. Medical treatment remained unchanged. Worsening events and survival rate were assessed in a follow-up period of 21±14months. RESULTS: Twenty consecutive CHD-APAH patients (16 female, 4 male, mean pulmonary arterial pressure 60±23mmHg) were included. Patients significantly improved the mean distance walked in 6min compared to baseline by 63±47m after 3weeks (p<0.001) and by 67±59m after 15weeks (p=0.001). Quality of life-score (p=0.05), peak oxygen consumption (p=0.002) and maximal workload (p=0.003) improved significantly by exercise training after 15weeks. The 1-and 2-year survival rates were 100%, the transplantation-free survival rate was 100% after 1year and 93% after 2years. CONCLUSION: Exercise training as add-on to medical therapy may be effective in patients with CHD-APAH and improved work capacity, quality of life and further prognostic relevant parameters. It was associated with an excellent long-term survival. Further randomized controlled studies are needed to confirm these results. DOI: https://doi.org/10.1016/j.ijcard.2012.09.036Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-69347 Accepted Version Originally published at: Becker-Grünig, Tabea; Klose, Hans; Ehlken, Nicola; Lichtblau, Mona; Nagel, Christian; Fischer, Christine; Gorenflo, Matthias; Tiede, Henning; Schranz, Dietmar; Hager, Alfred; Kaemmerer, Harald; Miera, Oliver; Ulrich, Silvia; Speich, Rudolf; Uiker, Sören; Grünig, Ekkehard (2013). Efficacy of exercise training in pulmonary arterial hypertension associated with congenital heart disease. International Journal of Cardiology, 168 (1) Structured AbstractBackground: The objective of this prospective study was to assess the efficacy of

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Efficacy of exercise training in pulmonary arterial hypertension associated with congenital heart disease

Becker-Grünig¹,

Klose²,

Ehlken³

et al. 2013

International Journal of Cardiology

Self Cite

120

121

View full text Add to dashboard Cite

show abstract

“…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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Exercise performance and quality of life is more impaired in Eisenmenger syndrome than in complex cyanotic congenital heart disease with pulmonary stenosis

Cited by 47 publications

References 32 publications

Efficacy of exercise training in pulmonary arterial hypertension associated with congenital heart disease

Efficacy of exercise training in pulmonary arterial hypertension associated with congenital heart disease

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot

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