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Maternal and fetal outcome in operated vs non-operated cases of congenital heart disease cases in pregnancy.

Indian Heart J. 2018 Jan - Feb;70(1):82-86

Authors: Yadav V, Sharma JB, Mishra S, Kriplani A, Bhatla N, Kachhawa G, Kumari R, Karthik, Kriplani I

OBJECTIVES: To study pregnancy outcomes in operated vs non-operated cases of congenital heart disease cases during pregnancy.
MATERIALS AND METHODS: A total of 55 patients of congenital heart disease who delivered in the authors unit in last 10 years were taken in this retrospective study. These were divided into two groups Group 1:29 (52.7%) patient who had no cardiac surgery and Group 2: 26(47.2%) who had cardiac surgery to correct their cardiac defect before pregnancy. All patients were evaluated for cardiac complications and outcome during pregnancy. Obstetric complications, mode of delivery and fetal outcome was compared in the two groups using statistical analysis.
RESULT: The commonest lesion was atrial septal defect (ASD) seen in 22(40%) patients followed by ventricular septal defect (VSD) in 16(29%) .Congenital valvular disease 8(14.5%) and patent ductus arteriosus in 4(7.2%) cases. The mean age was 25.9 ± 3.15 years in Group 1 and 26.3 ± 4.53 years in Group 2. The baseline characteristics were similar in the two groups. There was no difference in cardiac complications, NYHA deterioration and need of cardiac drugs in the two groups. Obstetric complications and mode of delivery were also similar in the two groups.Mean birth weight was 2516.65 ± 514.04 gm in Group 1 and 2683.00 ± 366.00 gm in Group 2 and was similar. APGAR < 8, stillbirth rate and other neonatal complications were also similar in two groups.
CONCLUSION: The maternal and fetal outcome was excellent in patients with congenital heart disease and was similar in unoperated and operated cases.

PMID: 29455793 [PubMed - indexed for MEDLINE]

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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Genome Med. 2018 Jul 20;10(1):56

Authors: Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive pulmonary arterial pressures, right-sided heart failure, and a high mortality rate. Up to 30% of adult and 75% of pediatric PAH cases are associated with congenital heart disease (PAH-CHD), and the underlying etiology is largely unknown. There are no known major risk genes for PAH-CHD.
METHODS: To identify novel genetic causes of PAH-CHD, we performed whole exome sequencing in 256 PAH-CHD patients. We performed a case-control gene-based association test of rare deleterious variants using 7509 gnomAD whole genome sequencing population controls. We then screened a separate cohort of 413 idiopathic and familial PAH patients without CHD for rare deleterious variants in the top association gene.
RESULTS: We identified SOX17 as a novel candidate risk gene (p = 5.5e-7). SOX17 is highly constrained and encodes a transcription factor involved in Wnt/β-catenin and Notch signaling during development. We estimate that rare deleterious variants contribute to approximately 3.2% of PAH-CHD cases. The coding variants identified include likely gene-disrupting (LGD) and deleterious missense, with most of the missense variants occurring in a highly conserved HMG-box protein domain. We further observed an enrichment of rare deleterious variants in putative targets of SOX17, many of which are highly expressed in developing heart and pulmonary vasculature. In the cohort of PAH without CHD, rare deleterious variants of SOX17 were observed in 0.7% of cases.
CONCLUSIONS: These data strongly implicate SOX17 as a new risk gene contributing to PAH-CHD as well as idiopathic/familial PAH. Replication in other PAH cohorts and further characterization of the clinical phenotype will be important to confirm the precise role of SOX17 and better estimate the contribution of genes regulated by SOX17.

PMID: 30029678 [PubMed - in process]

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Positive pediatric exercise capacity trajectory predicts better adult Fontan physiology rationale for early establishment of exercise habits.

Int J Cardiol. 2018 Jul 04;:

Authors: Ohuchi H, Negishi J, Miike H, Toyoshima Y, Morimoto H, Fukuyama M, Iwasa T, Sakaguchi H, Miyazaki A, Shiraishi I, Kurosaki K, Nakai M

OBJECTIVE: Exercise training is recommended for its possible favorable effects on Fontan pathophysiology. This study aimed to elucidate the impact of pediatric exercise capacity trajectory, which may mimic the effect of exercise training, on late adult Fontan pathophysiology.
METHODS: Since 1990, 97 Fontan patients had consecutively undergone two serial cardiopulmonary exercise tests (CPX1 and CPX2) during childhood (ages 8 ± 2 and 14 ± 2 years) and one during adulthood (CPX3; age 23 ± 5 years). The changes in peak oxygen uptake (PVO2: % of normal value) from CPX1 to CPX2 (1-dPVO2) and from CPX2 to CPX3 (2-dPVO2) were calculated, and then the patients were divided into four subgroups according the 1-dPVO2 and 2-dPVO2.
RESULTS: In their adulthood, when compared with groups with negative 1-dPVO2, the central venous pressure, plasma brain natriuretic peptide level, and renal resistive index were lower, whereas liver synthetic function, body fat-free percentage, and PVO2 were higher in those with positive 1-dPVO2 (p < 0.05-0.0001). However, these favorable associations of 2-d-PVO2 with adult Fontan pathophysiology were not observed, except for the PVO2. After CPX3, 13 unexpected events occurred, and the risk was 76% lower in the groups having positive 1-dPVO2 than in those with negative 1-dPVO2 (hazard ratio, 0.24; 95% confidence interval, 0.09-0.62; p = 0.0035).
CONCLUSIONS: A positive exercise capacity trajectory during childhood predicts better adult Fontan pathophysiology, including better prognosis. Thus, prescription of exercise could be a promising strategy in the management of pediatric Fontan patients.

PMID: 30029798 [PubMed - as supplied by publisher]

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Impaired right ventricular reserve predicts adverse cardiac outcomes in adults with congenital right heart disease.

Heart. 2018 Jul 20;:

Authors: DeFaria Yeh D, Stefanescu Schmidt AC, Eisman AS, Serfas JD, Naqvi M, Youniss MA, Ryfa AD, Khan AA, Safi L, Tabtabai SR, Bhatt AB, Lewis GD

OBJECTIVE: The prevalence of heart failure (HF) among adult patients with congenital heart disease (ACHD) is rising. Right ventricle (RV) exercise reserve and its relationship to outcomes have not been characterised. We aim to evaluate the prognostic impact of impaired RV reserve in an ACHD population referred for cardiopulmonary exercise testing (CPET).
METHODS: This retrospective study evaluates patients with ACHD who underwent CPET (n=147) with first-pass radionuclide ventriculography at a single tertiary care centre. RV reserve was categorised as normal, mild to moderately or severely impaired. The primary composite clinical outcome included clinical right HF, arrhythmia, transplantation or death.
RESULTS: Patients were median age 41±13 years, 50% were female and median follow-up was 1.1 (IQR: 0.7-2.0) years. Exercise RV reserve was impaired in 103 patients (70%), of whom 32% were asymptomatic. Resting RV systolic function poorly predicted RV reserve, with 52% of patients with severe impairment having a qualitatively normal echocardiographic assessment. The severely impaired reserve group had lower peak oxygen consumption (VO2)(17.2 vs 22.5 mL/kg/min, p<0.0001) compared with the normal reserve group, and was more likely to develop the composite outcome (48% vs 9%, log-rank p<0.001). Severely impaired RV reserve predicted event-free survival after adjusting for peak VO2, age, sex, RV pathology, QRS duration, New York Heart Association class, resting RV ejection fraction and RV dilation by echocardiography or MRI (HR 3.7, 95% CI 1.1 to 13.0, p=0.039).
CONCLUSION: Impaired RV reserve, occurred in asymptomatic patients, was not well predicted by resting systolic function assessment, and strongly predicted adverse cardiovascular outcomes.

PMID: 30030334 [PubMed - as supplied by publisher]

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A Multifaceted Approach to Pulmonary Hypertension in Adults with Congenital Heart Disease.

Prog Cardiovasc Dis. 2018 Jul 18;:

Authors: Fathallah M, Krasuski RA

Advances in the management of congenital heart disease (CHD) in children have resulted in growing numbers of adults with CHD. Pulmonary arterial hypertension related to CHD (PAH-CHD) is a common complication, affecting up to 10% of patients; and can arise even after successful and complete defect repair, with severe and potentially fatal consequences. Careful work-up in these patients is essential, particularly hemodynamic assessment, and can help define the most appropriate therapeutic approach. Management can be challenging, but the therapeutic armamentarium is continually expanding and now includes surgical, transcatheter and medical options. Timely correction of defects along with early treatment with advanced medical therapies appears to improve quality of life and possible even improve survival. Interestingly most studies of PAH-CHD have focused on its most severely afflicted patients, those with Eisenmenger Syndrome, making it less certain how to manage PAH-CHD of milder degrees. This review summarizes our current understanding of PAH-CHD and emphasizes the need for close follow-up in specialized centers of care where close collaboration is common practice.

PMID: 30031003 [PubMed - as supplied by publisher]

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Transition of Care in Congenital Disease: Allaying Fears for Patients and Specialists.

Prog Cardiovasc Dis. 2018 Jul 18;:

Authors: Cotts TB

Advances in the care of infants and children with congenital heart disease (CHD) have resulted in significantly improved survival of this population into adulthood. Although the majority of patients with CHD have undergone surgical intervention or transcatheter intervention, patients are not "cured" and almost all require lifelong cardiac care. In many parts of the world, robust systems of care have been developed for infants and children with CHD. Although there has been progress in the development of programs for the care of adults with CHD, the time of transition and transfer of care remains a time of high risk for lapses in care and becoming lost to follow-up. Transition is a process of education and preparation for young patients to assume their own care as they enter adulthood, while transfer is the actual event of a patient moving their care from a pediatric to an adult environment. The purpose of this review is to summarize what is known of best practices related to the transition and transfer of patients with CHD to adult services and to provide a practical approach to the sometimes daunting task of preparing patients for the transfer of care.

PMID: 30031004 [PubMed - as supplied by publisher]

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Preoperative Evaluation of Adult Congenital Heart Disease Patients for Non-cardiac Surgery.

Curr Cardiol Rep. 2018 Jul 21;20(9):76

Authors: Gerardin JF, Earing MG

PURPOSE OF REVIEW: Highlight the extracardiac comorbidities that adult congenital heart disease patients and summarize the current recommendations for non-cardiac surgery.
RECENT FINDINGS: Adult congenital heart disease patients are living longer, becoming more complex and developing adult comorbidities as they age. These patients have multiorgan involvement including higher prevalence of kidney disease and decreased lung function. Non-cardiac comorbidities can complicate surgery in this patient population. Most patients have non-cardiac surgery in community settings. These settings may increase adverse events during and in the post-operative period. Survival is improved when moderate and complex patients are seen in regional referral centers. Improved awareness of long-term complications of congenital heart disease and extracardiac comorbidities for adult congenital heart disease patients is needed. Appropriate care settings with both congenital heart disease expertise and adult subspecialty care reduces morbidity and mortality in these complex patients.

PMID: 30032387 [PubMed - in process]

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Reproducibility of Cardiac Magnetic Resonance Imaging (CMRI)-Derived Right Ventricular Parameters in Repaired Tetralogy of Fallot (ToF).

Heart Lung Circ. 2018 Mar;27(3):381-385

Authors: Gnanappa GK, Rashid I, Celermajer D, Ayer J, Puranik R

BACKGROUND: Quantification of right ventricular (RV) volumes is challenging owing to variable reproducibility and is especially so in congenital heart disease. Cardiac magnetic resonance (CMR) has the ability to more comprehensively survey the entire right ventricle and is currently considered the gold standard.
AIMS: We aimed to determine the inter-observer reproducibility of CMR-derived RV volumes generated by two independent and experienced (SCMR Level III) observers in Tetralogy of Fallot (ToF) patients with varying degrees of RV dilatation.
METHODS: We performed a retrospective analysis of 120 consecutive patients with repaired ToF who underwent CMR. Two blinded observers calculated RV volumes in each oblique short axis slice independently. Bland-Altman analysis and inter-observer correlation coefficients (ICC) were assessed.
RESULTS: The coefficients of variation for RV parameters were: 2.9%, 8% and 3.4% for right ventricular end diastolic volume (RVEDV), right ventricular end systolic volume (RVESV) and right ventricular ejection fraction (RVEF) respectively. For RVEDV the interobserver correlation was 0.992 demonstrating excellent volumetric correlation between observers. The mean difference between the observers for right ventricular end diastolic volume index (RVEDVi) was 2.5ml/m2 (95% limits of agreement -7.3 to 12.2ml/m2). For patients with mild-moderate RV dilatation (RVEDVi <150ml/m2) the mean difference of RVEDVi was 1.8ml/m2 (95% limits of agreement -5.7 to 9.3ml/m2). For patients with severe RV dilatation (RVEDVi≥150ml/m2) the mean difference was -3.4ml/m2 (95% limits of agreement -8.6 to 15.4ml/m2).
CONCLUSIONS: In patients with repaired ToF and variable degrees of RV dilatation, CMR assessment of RV volumes and function has high inter-observer reproducibility. This allows for optimal timing of pulmonary valve replacement, based on progression of RV dilatation over time.

PMID: 28662918 [PubMed - indexed for MEDLINE]

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Educational level and employment status in adults with congenital heart disease.

Cardiol Young. 2018 Jan;28(1):32-38

Authors: Pfitzer C, Helm PC, Rosenthal LM, Walker C, Ferentzi H, Bauer UMM, Berger F, Schmitt KRL

Purpose Through this study we aimed to assess the educational level and employment status of adults with CHD in Germany.
METHODS: Data were acquired from an online survey carried out in 2015 by the German National Register for Congenital Heart Defects. A total of 1458 adults with CHD participated in the survey (response rate: 37.6%). For 1198 participants, detailed medical information, such as main cardiac diagnosis and information from medical reports, was available.
RESULTS: Of the participants surveyed (n=1198), 54.5% (n=653) were female, and the mean age was 30 years. The majority of respondents (59.4%) stated that they had high education levels and that they were currently employed (51.1%). Patients with simple CHD had significantly higher levels of education (p<0.001) and were more likely to be employed (p=0.01) than were patients with complex CHD.
CONCLUSIONS: More than half of the participants had high education levels and the majority were employed. The association between CHD and its severity and individuals' educational attainment should be investigated more closely in future studies.

PMID: 28899436 [PubMed - indexed for MEDLINE]

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Polyamine concentration is increased in thoracic ascending aorta of patients with bicuspid aortic valve.

Heart Vessels. 2018 Mar;33(3):327-339

Authors: Forte A, Grossi M, Bancone C, Cipollaro M, De Feo M, Hellstrand P, Persson L, Nilsson BO, Della Corte A

Polyamines are cationic molecules synthesized via a highly regulated pathway, obtained from the diet or produced by the gut microbiota. They are involved in general molecular and cellular phenomena that play a role also in vascular disease. Bicuspid aortic valve (BAV) is a congenital malformation associated to a greater risk of thoracic ascending aorta (TAA) aneurysm, whose pathogenesis is not yet well understood. We focused on differential analysis of key members of polyamine pathway and on polyamine concentration in non-dilated TAA samples from patients with either stenotic tricuspid aortic valve (TAV) or BAV (diameter ≤ 45 mm), vs. normal aortas from organ donors, with the aim of revealing a potential involvement of polyamines in early aortopathy. Changes of gene expression in TAA samples were evaluated by RT-PCR. Changes of ornithine decarboxylase 1 (ODC1), a key enzyme in polyamine formation, and cationic amino acid transporter 1 (SLC7A1/CAT-1) expression were analyzed also by Western blot. ODC1 subcellular localization was assessed by immunohistochemistry. Polyamine concentration in TAA samples was evaluated by HPLC. BAV TAA samples showed an increased concentration of putrescine and spermidine vs. TAV and donor samples, together with a decreased mRNA level of polyamine anabolic enzymes and of the putative polyamine transporter SLC7A1/CAT-1. The catabolic enzyme spermidine/spermine N1-acetyltransferase 1 showed a significant mRNA increase in TAV samples only, together with a decreased concentration of spermine. The decreased expression of SLC7A1/CAT-1 and ODC1 mRNAs in BAV corresponded to increased or unchanged expression of the respective proteins. ODC was located mainly in smooth muscle cell (SMC) nucleus in TAV and donor samples, while it was present also in SMC cytoplasm in BAV samples, suggesting its activation. In conclusion, BAV, but not TAV non-dilated samples show increased polyamine concentration, accompanied by the activation of a regulatory negative feedback mechanism.

PMID: 29147966 [PubMed - indexed for MEDLINE]