International journal of cardiology. Congenital heart disease最新文献

Longstanding left-to-right shunting associated with congenital heart disease (CHD) can ultimately lead to pulmonary vascular remodeling, pulmonary arterial hypertension, and shunt reversal, the hallmark feature of Eisenmenger Syndrome (ES). ES is a multisystem disease, with hematologic, cardiovascular, renal, neurologic, immune, and other manifestations, each of which inform its management. Many of the most distinct and clinically important consequences relate to chronic hypoxemia. The incidence of ES in in countries with access to pediatric cardiology and cardiac surgery services has declined in recent decades, due to earlier diagnosis and intervention for CHD. Moreover, in the era of disease targeting therapies (DTT), ES appears to be associated with better quality of life and less limiting symptoms. In addition, observational studies suggest that these therapies, alone and in combination, may be associated with improved survival. Despite these developments, ES mortality remains high, with heart failure being the most common cause of death. In this review, we discuss the pathophysiology of ES, the evolving understanding of risk stratification, as well as recent progress in pharmacologic and surgical management. Ultimately, despite strides in understanding and management of this complex disease, significant knowledge gaps remain.

Background

Obstructive complications in the Fontan circulation pose significant risks to affected patients. Traditional management strategies may be insufficient, necessitating innovative treatment approaches. This case report discusses the use of the FlowTriever Retrieval System for percutaneous aspiration thrombectomy in a patient with a history of Fontan procedure who developed conduit obstruction due to thrombus formation.

Case report

A 28-year-old male with a history of double inlet left ventricle and previous Fontan procedure presented with progressive dyspnea. Despite initial thrombectomy for high-risk pulmonary embolism, thrombi remained in the Fontan conduit and inferior vena cava. The patient remained hemodynamically unstable. Imaging confirmed thrombosis of the extracardiac conduit. An innovative percutaneous approach using the FlowTriever system successfully restored conduit flow and removed thrombus. Subsequent stenting addressed residual stenosis. Post-intervention, the patient showed remarkable clinical improvement. There were no procedure-related complications. He was discharged on an optimized anticoagulation regimen and remained asymptomatic during follow-up.

Conclusion

This case demonstrates the efficacy of the FlowTriever Retrieval System in managing complex thrombotic obstructions in Fontan circulation, which not only effectively resolved the obstruction but also maintained haemodynamic stability, thus highlighting its potential to enhance current treatment modalities for such congenital heart conditions.

Connective tissue disease associated pulmonary arterial hypertension (CTD-PAH) has benefited from the major treatment advances that have occurred within pulmonary hypertension over the past three decades. Inclusion of CTD-PAH cases in pivotal clinical trials led to regulatory approval and drug availability. This has improved outcomes but there are additional challenges for management. First, the multifaceted co-morbidity related to the associated CTD needs treatment alongside PAH and may impact on diagnosis and evaluation of treatment response. Secondary, cardiac involvement, interstitial lung disease and predisposition to thromboembolism in CTD may lead to compound phenotypes where PH has multiple mechanisms as well as precapillary pulmonary vasculopathy of PAH. In general, especially for systemic sclerosis, CTD-PAH has worse long-term survival than idiopathic or familial PAH. However, CTD also present an opportunity for screening and early detection and treatment for associated PAH, and this may in the future be a major advantage over idiopathic disease where presentation inevitable only occurs at symptomatic stages and diagnosis may be delayed. This article reviews and summarises some of the recent developments in investigation and management of CTD-PAH.

Background

Exercise capacity is reduced in patients with a Fontan circulation compared to their healthy peers secondary to altered haemodynamics of the Fontan circulation. Cardiopulmonary exercise testing is routinely used in Fontan patients to assess their cardiopulmonary response to exercise and help guide management decisions, however their results are routinely compared to normative data derived from healthy individuals.

Method

Using data available from the Pediatric Heart Network, we performed a retrospective study to derive Fontan-specific normative values in a subgroup of well-functioning adolescent patients. We utilised results from the Congenital Heart Adolescent and Teenager (CHAT) Questionnaire to classify patients into well-functioning and lower-functioning groups.

Results

We generated Fontan-specific regression equations in adolescent male and females for normative values of peak oxygen consumption (VO₂), maximal workload and VO₂ at anaerobic threshold.

Conclusion

We propose that Fontan-specific normative values are a more useful comparison than healthy normative data due to the known circulatory limitations of the Fontan circulation and will assist in management decision and prognostication.

Introduction

Rates of morbidity and mortality are high in the setting of Fontan physiology and effective medical therapies are not well-established. Clinical trials assessing phosophodiesterase-5-inhibitors, such as sildenafil, have not demonstrated major benefit in patients with a Fontan-type circulation but have only included stable, well-functioning people.

Methods

We sought to retrospectively characterize the people followed by the ANZ Fontan Registry prescribed sildenafil >30 days post Fontan-surgery.

Results

Of 1867 individuals, 19 (1 %) were prescribed sildenafil and met inclusion criteria; 12 (63 %) were female. Age at commencement was 9 years (IQR 13.5). Reasons for commencement were Fontan failure with elevated Fontan pressure (n = 4), failure without elevated pressure (n = 4), elevated pressure without failure (n = 6), failure symptoms without invasive assessment (n = 3) and pulmonary arterio-venous malformations (n = 2). At baseline hemodynamic study (n = 16) median Fontan pressure was 15.5 mmHg (IQR 3.1) and PVRi was 2.3 WU*m² (IQR 1.6). Improvement in the clinical indication was noted in 11/19 (58 %). In the subset in whom sildenafil was commenced with PVRi >2 WU*m² 6/7 (86 %) improved clinically. PVRi decreased by 1.8 WU*m² (IQR 1.0, n = 5, p = 0.03) on treatment in this group, compared with the <2 WU*m² group which increased by 0.3 WU*m² (IQR 0.2, n = 3, p = 0.01).

Conclusions

Some individuals with a Fontan circulation may benefit from sildenafil. Adequately designed clinical trials are needed.

Background

In order to manage a class of diseases as broad as congenital heart disease (CHD), multiple “manually generated” classification systems defining CHDs as mild, moderate and severe have been developed and used to good effect. As databases have grown, however, such “manual” complexity scoring has become infeasible. Though past attempts have been made to determine CHD complexity algorithmically using a list of diagnoses alone, missing data and lack of procedural information have been significant limitations.

Methods

We built an algorithm that can stratify the complexity of patients with CHD by integrating their diagnoses with a list of their previous procedures. Specific procedures which address a missing diagnosis or imply a certain operative status were used to supplement the diagnosis list. To verify this algorithm, CHD specialists manually checked the classification of 100 children and 100 adults across four hospitals in Australia.

Results

Our algorithm was 99.5% accurate in the manually checked cohort (100% in children and 99% in adults) and was able to automatically classify more than 90% of a cohort of over 24,000 CHD patients, including 92.5% of children (vs 84.4% without procedures, p < 0.0001) and 91.1% of adults (vs 70.4% without procedures; p < 0.0001).

Conclusions

CHD complexity scoring is significantly improved by access to procedural history and can be automatically calculated with high accuracy.

Background

Sports are associated with numerous physiological and psychological benefits. However, it is unclear to what extent adults with congenital heart disease(CHD) participate in sports and whether this is safe. Furthermore, little is known about lifestyle habits in this group.

Methods

Consecutive patients diagnosed with atrial septal defect, ventricular septal defect, pulmonary stenosis, tetralogy of Fallot and transposition of the great arteries who underwent open-heart surgery during childhood between 1968 and 1980 were included in a longitudinal follow-up study. Patients underwent cardiological investigations every 10 years and completed a questionnaire regarding sports participation in 2011 and in 2021.

Results

Of the 2021 cohort(n = 204, mean age:50 years, 46%female), 49% participated in sports. Compared to the general Dutch population they invested less time in sport(female: p = 0.03, male: p = 0.03). Patients participating in sports had better exercise capacity (p < 0.001) and lower average heart rate(p < 0.001). Patients engaged in sports reported better physical and mental health when compared to the norm and non-sporters. Mortality and cardiac events did not differ significantly between the 2 groups. Finally, no difference in lifestyle was found between adults with CHD and the general population, only smoking was less often reported among adults with CHD(p = 0.036).

Conclusions

Adults with CHD are significantly less involved in sports than their peers. Patients who were engaged in sports had better physical and mental health compared to those who were not. Sport participation was associated with lower heart rate and better exercise capacity. No negative effect in terms of cardiac events was observed in sporters. No signs of bad lifestyle were observed in adults with CHD.

Background

More women with congenital heart disease (CHD) reach reproductive age, but little is known of their success in having children. We investigated time trends of CHD in women of reproductive age and maternal CHD in childbirth and compared birth rates in women with CHD to birth rates in women without heart disease.

Methods and results

In a national cohort, we combined information from five registries in Norway 1994–2014. Among 1,644,650 women aged 15–45 years, 5672 had CHD. Among 1,183,851 childbirths, 3504 were registered with maternal CHD. The prevalences of mild and moderate/severe CHD in women increased by an average of 3–4% per year 1994–2014, as did the prevalences of mild and moderate/severe maternal CHD in childbirth. Compared to women without heart disease, the likelihood of having children was similar for women with mild CHD (rate ratio 1.03, 95% confidence interval 0.97–1.09) but lower for women with moderate/severe CHD (rate ratio 0.75, 95% confidence interval 0.68–0.84). The mean number of childbirths was similar in women with mild CHD and women without heart disease (1.81 vs 1.80, p = 0.722) but lower in women with moderate/severe CHD (1.42, p < 0.001).

Conclusion

In a national cohort over two decades of women of reproductive age, the prevalence of maternal CHD in childbirth reflected the increasing prevalence of CHD in the population. Birth rates were similar for women with mild CHD and women without heart disease, whereas women with moderate/severe CHD were less likely to have children and had a lower mean number of childbirths.

Background

Surgically repaired Tetralogy of Fallot (rTOF) is associated with progressive right ventricular hypertrophy (RVH) and dilation (RVD). Accurate estimation of RVH/RVD is vital for the ongoing management of this patient population. The utility of the ECG in evaluating patients with rTOF with pre-existing right bundle branch block (RBBB) has not been studied. We aimed to determine the sensitivity/specificity of currently established ECG criteria in detecting RVH/RVD in this patient population.

Methods

We included consecutive patients diagnosed with rTOF who underwent CMR performed at our regional referral centre between January 2012 and December 2019. Each CMR was assessed for LVH, LVD, RVH and or RVD. The ECG corresponding to the CMR was then used to determine RVH/LVH for specificity and sensitivity analysis.

Results

Our study included 163 consecutive rTOF patients. The specificity for ECG-based criteria for LVH was 100.00% (95% C.I. (87.75, 100.00)), and the sensitivity was 7.19% (95% C.I. (3.15, 12.83)). When RBBB was present, specificity for RVH was 100.00% (95% C.I. (84.56, 100.00)), and sensitivity was 7.69% (95% C.I. (3.75, 13.69)). When RBBB was absent, specificity for RVH was 100.00% (95% C.I. (15.81, 100.00)), and sensitivity was 0.00% (95% C.I. (0.00, 33.63)). A regression model with the entire group of 163 ToF patients, based on the Sokolow-Lyon criterion (sum of R in V1 + S in V5/V6), produced a new suggested criterion for the diagnosis of RVH in patients with rTOF, which was a sum of R in V1 + S in V5/V6 greater than 13.25 mm. This model's sensitivity for RVH detection was 69.1%, and specificity was 36.8%.

Conclusions

Standard ECG voltage criteria have poor sensitivity for detecting right and left ventricular chamber hypertrophy and dilatation in patients with rTOF, so current ECG criteria should not be used to monitor RVH/RVD in this patient population.

Background

Extracardiac conduit Fontan procedure (ECFP) employing a Gore-Tex conduit has been widely used for patients with single ventricle physiology; however, the long-term status of the conduit is unknown. We investigated the changes in a Gore-Tex conduit after ECFP and the factors associated with its narrowing.

Methods

We conducted a retrospective analysis of 86 patients who underwent ECFP between January 1995 and December 2008 and had cardiac computed tomography (CT) during the follow-up period.

Results

The median patient age at ECFP was 2.8 years (range 1.6–9.7), and a cardiac CT was obtained at 13.1 ± 3.4 years later. The minimum conduit area decreased by approximately two-thirds of the original due to calcification, pseudointimal hyperplasia, thrombus, and luminal irregularity. The normalized minimum conduit area was influenced by the time interval from ECFP and normalized original conduit area at ECFP. An oversized conduit was associated with a narrowing of both its sides and a high frequency of pseudointimal hyperplasia or mural thrombus. The ratio of minimum conduit-to-inferior vena cava areas was lower in patients with chronic liver disease than in those with a normal liver. The maximum percent stenosis of the conduit correlated with oxygen pulse and heart rate during peak exercise.

Conclusions

Using a larger conduit at ECFP resulted in a larger minimum conduit area at follow-up. However, oversizing requires careful monitoring for stenosis near anastomotic sites and the occurrence of pseudointimal hyperplasia or thrombus.