Pub Date : 2025-05-30DOI: 10.1016/j.ijcchd.2025.100595
Tanya Badal , Calum Nicholson , Julian Ayer , Michael Cheung , Leeanne Grigg , David S. Celermajer , Geoff Strange
Background
Previous research has outlined significant gaps in the care of children and adults with Congenital Heart Disease (CHD). The Australian Study of the Burden and Outcomes of CHD will assess medical, psychological, social and economic issues affecting CHD patients and carers and provide a detailed account of CHD patients’ healthcare utilisation.
Methods
A random sample of patients aged ≥5 years, equally split between genders, CHD complexity (mild, moderate, severe) and rural and remote locations (20–25%) was extracted from the National Australian CHD Registry (n = 68,214) from four large participating CHD centres (2 adult and 2 child). Patients and their carers were invited to participate in an in-person study visit for physical assessment and for a series of surveys questioning physical and mental health, neurodevelopment, and quality of life.
Results
Of 6,726 contacted patients, 1,911 (28%) consented, with 99.5% of surveys completed online. 1,658 consented participants completed at least one study activity (87% response rate). Proxies/carers completed surveys for 11% of participants (primarily those under age 8 or with intellectual disability). All study activities were completed by 750 respondents (45%). Respondents were older (median age 24 [IQR 12–41 years] vs 18 [IQR 11–35 years], p = 0.005) and had a higher proportion of severe CHD (28%) compared to non-respondents (23%). No significant differences in disease complexity were observed between respondents and non-respondents.
Conclusion
This multi-site study of over 1600 CHD patients aims to offer the first comprehensive profiling of the burdens and outcomes faced by Australia's growing CHD population.
{"title":"A detailed profiling study from the national Australian Congenital Heart Disease registry: rationale and design","authors":"Tanya Badal , Calum Nicholson , Julian Ayer , Michael Cheung , Leeanne Grigg , David S. Celermajer , Geoff Strange","doi":"10.1016/j.ijcchd.2025.100595","DOIUrl":"10.1016/j.ijcchd.2025.100595","url":null,"abstract":"<div><h3>Background</h3><div>Previous research has outlined significant gaps in the care of children and adults with Congenital Heart Disease (CHD). The Australian Study of the Burden and Outcomes of CHD will assess medical, psychological, social and economic issues affecting CHD patients and carers and provide a detailed account of CHD patients’ healthcare utilisation.</div></div><div><h3>Methods</h3><div>A random sample of patients aged ≥5 years, equally split between genders, CHD complexity (mild, moderate, severe) and rural and remote locations (20–25%) was extracted from the National Australian CHD Registry (n = 68,214) from four large participating CHD centres (2 adult and 2 child). Patients and their carers were invited to participate in an in-person study visit for physical assessment and for a series of surveys questioning physical and mental health, neurodevelopment, and quality of life.</div></div><div><h3>Results</h3><div>Of 6,726 contacted patients, 1,911 (28%) consented, with 99.5% of surveys completed online. 1,658 consented participants completed at least one study activity (87% response rate). Proxies/carers completed surveys for 11% of participants (primarily those under age 8 or with intellectual disability). All study activities were completed by 750 respondents (45%). Respondents were older (median age 24 [IQR 12–41 years] vs 18 [IQR 11–35 years], p = 0.005) and had a higher proportion of severe CHD (28%) compared to non-respondents (23%). No significant differences in disease complexity were observed between respondents and non-respondents.</div></div><div><h3>Conclusion</h3><div>This multi-site study of over 1600 CHD patients aims to offer the first comprehensive profiling of the burdens and outcomes faced by Australia's growing CHD population.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"21 ","pages":"Article 100595"},"PeriodicalIF":0.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144330248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-27DOI: 10.1016/j.ijcchd.2025.100597
Laura Delaney , Andrew Browne , Gruschen R. Veldtman , Sihong Huang
Background
Here we propose a novel approach to determine a patient-specific optimal time for pulmonary valve replacement (PVR) in patients with repaired tetralogy of Fallot (rTOF) based on a mathematical technique known as optimal stopping theory.
Methods
We outline, in a theoretical framework, how we would apply the proposed timing rule for PVR in patients with rTOF. We define each of the model input variables specific to PVR, and we describe how the model can be assessed for its suitability for use in clinical practice to guide timing of PVR in patients with rTOF.
Results
In this manuscript we demonstrate, for the first time, an application of a timing rule derived from a mathematical technique known as optimal stopping theory to determine the optimal time to perform PVR in patients with rTOF. Using the technique, we derive two patient-specific-thresholds on clinical status based on patient specific risk factors. PVR is recommended if at the time of assessment, a patient's clinical status lies between the thresholds. Otherwise, they are either too well or too unwell to undergo PVR.
Conclusions
Current clinical practice guidelines for timing of PVR in patients with rTOF remains flawed and has since been challenged. We believe the timing rule is a suitable approach to complement current medical guidelines on when to perform PVR in patients with rTOF on a patient-specific level. To determine its suitability for generalized application in clinical practice, we intent to validate it retrospectively using large clinical cohort(s) who have undergone PVR for rTOF.
{"title":"A novel approach to determining pulmonary valve replacement timing in repaired tetralogy of Fallot patients","authors":"Laura Delaney , Andrew Browne , Gruschen R. Veldtman , Sihong Huang","doi":"10.1016/j.ijcchd.2025.100597","DOIUrl":"10.1016/j.ijcchd.2025.100597","url":null,"abstract":"<div><h3>Background</h3><div>Here we propose a novel approach to determine a patient-specific optimal time for pulmonary valve replacement (PVR) in patients with repaired tetralogy of Fallot (rTOF) based on a mathematical technique known as optimal stopping theory.</div></div><div><h3>Methods</h3><div>We outline, in a theoretical framework, how we would apply the proposed timing rule for PVR in patients with rTOF. We define each of the model input variables specific to PVR, and we describe how the model can be assessed for its suitability for use in clinical practice to guide timing of PVR in patients with rTOF.</div></div><div><h3>Results</h3><div>In this manuscript we demonstrate, for the first time, an application of a timing rule derived from a mathematical technique known as optimal stopping theory to determine the optimal time to perform PVR in patients with rTOF. Using the technique, we derive two patient-specific-thresholds on clinical status based on patient specific risk factors. PVR is recommended if at the time of assessment, a patient's clinical status lies between the thresholds. Otherwise, they are either too well or too unwell to undergo PVR.</div></div><div><h3>Conclusions</h3><div>Current clinical practice guidelines for timing of PVR in patients with rTOF remains flawed and has since been challenged. We believe the timing rule is a suitable approach to complement current medical guidelines on when to perform PVR in patients with rTOF on a patient-specific level. To determine its suitability for generalized application in clinical practice, we intent to validate it retrospectively using large clinical cohort(s) who have undergone PVR for rTOF.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"21 ","pages":"Article 100597"},"PeriodicalIF":1.2,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144810503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-27DOI: 10.1016/j.ijcchd.2025.100594
Sophia Anastasia Mouratoglou , Alexandra Arvanitaki , George Papadopoulos , Rogerio Souza , George Giannakoulas
Pulmonary arterial hypertension (PAH) is a progressive and life-threatening condition characterized by elevated pulmonary vascular resistance, ultimately leading to right heart failure and death. Advances in the understanding of PAH pathophysiology have driven the development of targeted therapies that improve functional capacity, quality of life and survival. The current treatment paradigm emphasizes early and aggressive therapy, with combination therapy now considered standard of care, offering superior outcomes compared to monotherapy. Herewith, we examine the underlying pathophysiological mechanisms of PAH and explore the modes of action and clinical efficacy of major therapeutic classes, providing a comprehensive overview of contemporary treatment strategies.
{"title":"Pulmonary arterial hypertension treatment. A new era","authors":"Sophia Anastasia Mouratoglou , Alexandra Arvanitaki , George Papadopoulos , Rogerio Souza , George Giannakoulas","doi":"10.1016/j.ijcchd.2025.100594","DOIUrl":"10.1016/j.ijcchd.2025.100594","url":null,"abstract":"<div><div>Pulmonary arterial hypertension (PAH) is a progressive and life-threatening condition characterized by elevated pulmonary vascular resistance, ultimately leading to right heart failure and death. Advances in the understanding of PAH pathophysiology have driven the development of targeted therapies that improve functional capacity, quality of life and survival. The current treatment paradigm emphasizes early and aggressive therapy, with combination therapy now considered standard of care, offering superior outcomes compared to monotherapy. Herewith, we examine the underlying pathophysiological mechanisms of PAH and explore the modes of action and clinical efficacy of major therapeutic classes, providing a comprehensive overview of contemporary treatment strategies.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"21 ","pages":"Article 100594"},"PeriodicalIF":0.8,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144221932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-26DOI: 10.1016/j.ijcchd.2025.100596
Daniel A. Jeffery , Wendy Gin-Sing , Radwa Bedair , Luke S. Howard
Pulmonary Hypertension is a serious condition which can occur in adults living with congenital heart disease. Due to advances in the care of patients with congenital heart disease, patients are living longer with the condition. Unfortunately, patients living with Pulmonary Arterial Hypertension associated with Congenital Heart Disease (PAH-CHD) face a number of different issues directly related to their condition, which range from physical limitations and uncertainty over their diagnosis, which in some cases cause significant depression and anxiety, to impact on their relationships with friends and family, financial challenges and family planning.
In this article, we interview two patients living with PAH-CHD and discuss the numerous issues that patients may face as a direct result of their condition.
{"title":"The PAH patient's perspective","authors":"Daniel A. Jeffery , Wendy Gin-Sing , Radwa Bedair , Luke S. Howard","doi":"10.1016/j.ijcchd.2025.100596","DOIUrl":"10.1016/j.ijcchd.2025.100596","url":null,"abstract":"<div><div>Pulmonary Hypertension is a serious condition which can occur in adults living with congenital heart disease. Due to advances in the care of patients with congenital heart disease, patients are living longer with the condition. Unfortunately, patients living with Pulmonary Arterial Hypertension associated with Congenital Heart Disease (PAH-CHD) face a number of different issues directly related to their condition, which range from physical limitations and uncertainty over their diagnosis, which in some cases cause significant depression and anxiety, to impact on their relationships with friends and family, financial challenges and family planning.</div><div>In this article, we interview two patients living with PAH-CHD and discuss the numerous issues that patients may face as a direct result of their condition.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"21 ","pages":"Article 100596"},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144243004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-13DOI: 10.1016/j.ijcchd.2025.100591
Andrés Cano Pérez , Larraitz Orive Melero , Jose Félix Larrea Egurbide , Jagoba Larrazábal López , Luis Fernández González , Roberto Blanco Mata , Josune Arriola Meabe , Leire Artiñano Mendizábal , Ane Josune Goikoetxea Agirre , María José Blanco Vidal , Javier Ayala Curiel , Pedro María Montes Orbe
Introduction
The number of cases of infective endocarditis associated to prosthetic pulmonary valves and pulmonary conduits (PPVIE) is likely to increase in the future. Transthoracic echocardiography (TTE) presents challenges in visualizing lesions suggestive of endocarditis in these patients. However, TTE may provide additional findings, such as prosthetic dysfunction, which can guide the diagnosis of this condition. The main objective of this study is to analyze prosthetic pulmonary valve dysfunction as an echocardiographic manifestation of PPVIE.
Methods
All cases of PPVIE (definite and possible, according to the modified Duke criteria) at Cruces University Hospital (Baracaldo, Spain) between January 2014 and July 2024 were included. Prosthetic dysfunction was defined as a peak transvalvular gradient (PTG) ≥25 mmHg for homografts and ≥40 mmHg for prosthetic pulmonary valves and bovine pulmonary conduits (stenosis) and/or pulmonary regurgitation (PR) moderate or severe. Number of cases of prosthetic dysfunction between the PPVIE episode and prior to the episode were compared. We analyzed the mechanisms of prosthetic dysfunction in the PPVIE episode.
Results
14 cases of PPVIE were identified. In cases prior to the PPVIE episode, 42.9 % had prosthetic dysfunction, while in the PPVIE episode, 92.3 % had prosthetic dysfunction. Stenosis was a more frequent cause of valve dysfunction than PR.
Conclusions
Prosthetic dysfunction (due to stenosis or regurgitation) is a relevant finding in the diagnosis of PPVIE in cases where lesions suggestive of endocarditis are not visualised. Although not included in the Duke criteria, stenosis is a more frequent mechanism of dysfunction than PR.
{"title":"Evaluation of prosthetic dysfunction in the diagnosis of endocarditis associated to prosthetic pulmonary valve and pulmonary conduit","authors":"Andrés Cano Pérez , Larraitz Orive Melero , Jose Félix Larrea Egurbide , Jagoba Larrazábal López , Luis Fernández González , Roberto Blanco Mata , Josune Arriola Meabe , Leire Artiñano Mendizábal , Ane Josune Goikoetxea Agirre , María José Blanco Vidal , Javier Ayala Curiel , Pedro María Montes Orbe","doi":"10.1016/j.ijcchd.2025.100591","DOIUrl":"10.1016/j.ijcchd.2025.100591","url":null,"abstract":"<div><h3>Introduction</h3><div>The number of cases of infective endocarditis associated to prosthetic pulmonary valves and pulmonary conduits (PPVIE) is likely to increase in the future. Transthoracic echocardiography (TTE) presents challenges in visualizing lesions suggestive of endocarditis in these patients. However, TTE may provide additional findings, such as prosthetic dysfunction, which can guide the diagnosis of this condition. The main objective of this study is to analyze prosthetic pulmonary valve dysfunction as an echocardiographic manifestation of PPVIE.</div></div><div><h3>Methods</h3><div>All cases of PPVIE (definite and possible, according to the modified Duke criteria) at Cruces University Hospital (Baracaldo, Spain) between January 2014 and July 2024 were included. Prosthetic dysfunction was defined as a peak transvalvular gradient (PTG) ≥25 mmHg for homografts and ≥40 mmHg for prosthetic pulmonary valves and bovine pulmonary conduits (stenosis) and/or pulmonary regurgitation (PR) moderate or severe. Number of cases of prosthetic dysfunction between the PPVIE episode and prior to the episode were compared. We analyzed the mechanisms of prosthetic dysfunction in the PPVIE episode.</div></div><div><h3>Results</h3><div>14 cases of PPVIE were identified. In cases prior to the PPVIE episode, 42.9 % had prosthetic dysfunction, while in the PPVIE episode, 92.3 % had prosthetic dysfunction. Stenosis was a more frequent cause of valve dysfunction than PR.</div></div><div><h3>Conclusions</h3><div>Prosthetic dysfunction (due to stenosis or regurgitation) is a relevant finding in the diagnosis of PPVIE in cases where lesions suggestive of endocarditis are not visualised. Although not included in the Duke criteria, stenosis is a more frequent mechanism of dysfunction than PR.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"21 ","pages":"Article 100591"},"PeriodicalIF":0.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144139013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-05DOI: 10.1016/j.ijcchd.2025.100590
Miriam Michel , David Renaud , Benjamin Kelly , Ismael Z. Assi , Liming Pei , Alexander R. Opotowsky
{"title":"Overcoming borders: International cooperation in re-use and re-interpretation of omics data in Fontan circulation","authors":"Miriam Michel , David Renaud , Benjamin Kelly , Ismael Z. Assi , Liming Pei , Alexander R. Opotowsky","doi":"10.1016/j.ijcchd.2025.100590","DOIUrl":"10.1016/j.ijcchd.2025.100590","url":null,"abstract":"","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"20 ","pages":"Article 100590"},"PeriodicalIF":0.8,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143935177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-28DOI: 10.1016/j.ijcchd.2025.100589
Raksheeth Agarwal , Louise E. Coats , Ali N. Zaidi
Endothelial dysfunction is characterized by a vasoconstricted, pro-coagulative, and pro-inflammatory phenotype and is known to play a role in several chronic non-communicable diseases. Several biophysical and biochemical markers have been developed to assess endothelial function clinically. Its relevance in individuals born with single-ventricle congenital heart disease (SV-CHD) is increasingly recognized. Endothelial dysfunction has been observed in all stages of palliation in SV-CHD patients. Several mechanisms possibly contribute, including genetic factors, hypoxia, loss of pulsatility of blood flow, neurohormonal and sympathetic overactivation, and oxidative stress. Clinically, it possibly contributes to impaired pulmonary flow, exercise limitation, thromboembolisms, liver dysfunction, and adverse pregnancy outcomes. Based on this information, several therapeutic targets have been proposed such as early surgical and exercise interventions, pulmonary vasodilators, and other common pharmacological agents. However, much remains unknown and future studies must unravel the relationship of endothelial dysfunction with this complex patient group, ultimately improving their clinical care.
{"title":"Endothelial dysfunction in single ventricle physiology and the Fontan circulation – What lies ahead","authors":"Raksheeth Agarwal , Louise E. Coats , Ali N. Zaidi","doi":"10.1016/j.ijcchd.2025.100589","DOIUrl":"10.1016/j.ijcchd.2025.100589","url":null,"abstract":"<div><div>Endothelial dysfunction is characterized by a vasoconstricted, pro-coagulative, and pro-inflammatory phenotype and is known to play a role in several chronic non-communicable diseases. Several biophysical and biochemical markers have been developed to assess endothelial function clinically. Its relevance in individuals born with single-ventricle congenital heart disease (SV-CHD) is increasingly recognized. Endothelial dysfunction has been observed in all stages of palliation in SV-CHD patients. Several mechanisms possibly contribute, including genetic factors, hypoxia, loss of pulsatility of blood flow, neurohormonal and sympathetic overactivation, and oxidative stress. Clinically, it possibly contributes to impaired pulmonary flow, exercise limitation, thromboembolisms, liver dysfunction, and adverse pregnancy outcomes. Based on this information, several therapeutic targets have been proposed such as early surgical and exercise interventions, pulmonary vasodilators, and other common pharmacological agents. However, much remains unknown and future studies must unravel the relationship of endothelial dysfunction with this complex patient group, ultimately improving their clinical care.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"20 ","pages":"Article 100589"},"PeriodicalIF":0.8,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143911594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-26DOI: 10.1016/j.ijcchd.2025.100587
Samuel L. Casella , Sangeeta Shah
Biatrial drainage of the right superior vena cava (RSVC) is a rare anomaly of the cavo-pulmonary venous confluence which may lead to chronic cyanosis, stroke and cerebral abscess. Historical corrections have been limited to open surgical repair. We describe an adult patient with biatrial drainage of the RSVC with chronic cyanosis who underwent successful percutaneous correction using a covered stent.
{"title":"Percutaneous repair of biatrial drainage of the right superior vena cava using a covered stent","authors":"Samuel L. Casella , Sangeeta Shah","doi":"10.1016/j.ijcchd.2025.100587","DOIUrl":"10.1016/j.ijcchd.2025.100587","url":null,"abstract":"<div><div>Biatrial drainage of the right superior vena cava (RSVC) is a rare anomaly of the cavo-pulmonary venous confluence which may lead to chronic cyanosis, stroke and cerebral abscess. Historical corrections have been limited to open surgical repair. We describe an adult patient with biatrial drainage of the RSVC with chronic cyanosis who underwent successful percutaneous correction using a covered stent.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"20 ","pages":"Article 100587"},"PeriodicalIF":0.8,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143935176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-25DOI: 10.1016/j.ijcchd.2025.100588
Constance G. Weismann , Frishta Jafar , Joanna Hlebowicz
Introduction
Traditional cardiovascular risk factors put patients with congenital heart disease (CHD) at increased risk for acquired cardiovascular disease and mortality – more so than patients without CHD. In the general population, health related quality of life (HRQoL) is associated with regular physical activity. It was the aim of this study to evaluate the most important predictors of HRQoL in adults with CHD (ACHD).
Methods
This is a registry study using single center data collected between 2004 and 2022. Data include demographic data such as age and sex, body mass index (BMI) type of CHD, prior surgeries, physical activity and HRQoL using the EQ-5D-3L questionnaire. CHD severity was classified based on European Society of Cardiology (ESC) criteria. The cohort was divided based on self-reported levels of physical activity.
Results
A total of 2469 patients were included in this study. 878 (25.6 %) patients had mild, 1151 (46.9 %) moderate and 329 (13.3 %) severe CHD. Patients with severe CHD had a lower BMI, HRQoL and were less physically active than those with mild-moderate CHD. Conversely, patients who were not doing regular exercise were significantly older, were more likely to be female, had a higher BMI, and had a lower HRQoL than their physically active peers. In a logistic regression model, physical activity was the most important predictor of a perfect HRQoL score in all five domains, especially if performed for ≥3 h/week (Odds ratios (OR) 2.1–7.5, all p < 0.001). In patients with severe CHD, HRQoL was disproportionately increased with even little exercise. Other important predictors of perfect HRQoL were younger age (OR 0.99, p < 0.001), male sex (OR 1.58, p < 0.001), mild-moderate CHD (OR 1.59, p < 0.001) and being of normal/overweight (OR 1.44, p < 0.001). Patients with underweight or obesity had a higher HRQoL only if execrising ≥3 h/week.
Conclusion
Regular physical activity in ACHD patients is associated with better HRQoL. Patients with underweight and obesity alike are also at risk for impaired HRQoL. We suggest that ACHD follow-up visits should include counseling on life-style issues in order to enhance HRQoL and minimize modifiable risk factors for acquired cardiovascular disease.
传统的心血管危险因素使先天性心脏病(CHD)患者患后天性心血管疾病和死亡的风险比非CHD患者更高。在一般人群中,健康相关生活质量(HRQoL)与规律的身体活动有关。本研究的目的是评估成人冠心病(ACHD)患者HRQoL的最重要预测因素。方法采用2004 - 2022年间收集的单中心数据进行注册研究。数据包括人口统计数据,如年龄和性别,体重指数(BMI)冠心病类型,既往手术,身体活动和HRQoL使用EQ-5D-3L问卷。根据欧洲心脏病学会(ESC)标准对冠心病严重程度进行分类。研究对象是根据自我报告的身体活动水平进行划分的。结果共纳入2469例患者。轻度冠心病878例(25.6%),中度冠心病1151例(46.9%),重度冠心病329例(13.3%)。与轻中度冠心病患者相比,重度冠心病患者BMI、HRQoL较低,体力活动较少。相反,不经常锻炼的患者明显年龄更大,更有可能是女性,BMI更高,HRQoL低于积极锻炼的同龄人。在logistic回归模型中,体力活动是所有五个领域HRQoL评分完美的最重要预测因素,特别是如果运动≥3小时/周(比值比(OR) 2.1-7.5,所有p <;0.001)。在严重冠心病患者中,即使很少运动,HRQoL也会不成比例地增加。完美HRQoL的其他重要预测因子为年轻(OR 0.99, p <;0.001),男性(OR 1.58, p <;0.001),轻中度冠心病(OR 1.59, p <;0.001)和正常/超重(OR 1.44, p <;0.001)。体重过轻或肥胖的患者只有在运动≥3小时/周时才有较高的HRQoL。结论有规律的体育锻炼可提高ACHD患者的HRQoL。体重过轻和肥胖的患者同样存在HRQoL受损的风险。我们建议ACHD随访应包括生活方式问题的咨询,以提高HRQoL并最大限度地减少获得性心血管疾病的可改变危险因素。
{"title":"Physical activity and weight are important predictors of health related quality of life in adults with congenital heart disease","authors":"Constance G. Weismann , Frishta Jafar , Joanna Hlebowicz","doi":"10.1016/j.ijcchd.2025.100588","DOIUrl":"10.1016/j.ijcchd.2025.100588","url":null,"abstract":"<div><h3>Introduction</h3><div>Traditional cardiovascular risk factors put patients with congenital heart disease (CHD) at increased risk for acquired cardiovascular disease and mortality – more so than patients without CHD. In the general population, health related quality of life (HRQoL) is associated with regular physical activity. It was the aim of this study to evaluate the most important predictors of HRQoL in adults with CHD (ACHD).</div></div><div><h3>Methods</h3><div>This is a registry study using single center data collected between 2004 and 2022. Data include demographic data such as age and sex, body mass index (BMI) type of CHD, prior surgeries, physical activity and HRQoL using the EQ-5D-3L questionnaire. CHD severity was classified based on European Society of Cardiology (ESC) criteria. The cohort was divided based on self-reported levels of physical activity.</div></div><div><h3>Results</h3><div>A total of 2469 patients were included in this study. 878 (25.6 %) patients had mild, 1151 (46.9 %) moderate and 329 (13.3 %) severe CHD. Patients with severe CHD had a lower BMI, HRQoL and were less physically active than those with mild-moderate CHD. Conversely, patients who were not doing regular exercise were significantly older, were more likely to be female, had a higher BMI, and had a lower HRQoL than their physically active peers. In a logistic regression model, physical activity was the most important predictor of a perfect HRQoL score in all five domains, especially if performed for ≥3 h/week (Odds ratios (OR) 2.1–7.5, all p < 0.001). In patients with severe CHD, HRQoL was disproportionately increased with even little exercise. Other important predictors of perfect HRQoL were younger age (OR 0.99, p < 0.001), male sex (OR 1.58, p < 0.001), mild-moderate CHD (OR 1.59, p < 0.001) and being of normal/overweight (OR 1.44, p < 0.001). Patients with underweight or obesity had a higher HRQoL only if execrising ≥3 h/week.</div></div><div><h3>Conclusion</h3><div>Regular physical activity in ACHD patients is associated with better HRQoL. Patients with underweight and obesity alike are also at risk for impaired HRQoL. We suggest that ACHD follow-up visits should include counseling on life-style issues in order to enhance HRQoL and minimize modifiable risk factors for acquired cardiovascular disease.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"20 ","pages":"Article 100588"},"PeriodicalIF":0.8,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143935174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-04-15DOI: 10.1016/j.ijcchd.2025.100584
Ismael Z. Assi , Michael J. Landzberg , Kristian C. Becker , David Renaud , Fernando Baraona Reyes , David M. Leone , Mark Benson , Miriam Michel , Robert E. Gerszten , Alexander R. Opotowsky
Background
High-throughput proteomics platforms using aptamers (SomaScan) or proximity extension assay (Olink) provide novel opportunities for improving diagnostic and risk stratification tools in cardiovascular diseases, including understudied congenital heart diseases. The correlation between these proteomics approaches has not yet been studied among individuals with a Fontan circulation.
Objective
The correlation of plasma protein measurements between SomaScan and Olink platforms was evaluated in adults with a Fontan circulation.
Methods
We measured 491 proteins in plasma of 71 adults with a Fontan circulation using Olink and SomaScan. Missing Olink measurements (0.13%, 47/34,861) were imputed using non-parametric imputation. Spearman's rank correlation coefficient for absolute values of protein expression between platforms was calculated. Protein correlation frequencies were compared to 3 cohorts reported in the literature using Pearson's Chi-squared test of independence.
Results
Overall, protein correlations between Olink and SomaScan measurements were moderately strong for most proteins, (rho > 0.4 for 57.2%), but with substantial variability (median correlation = 0.457, IQR = 0.538). The distribution of protein correlations was qualitatively similar to published literature in non-Fontan cohorts. Both Olink and SomaScan identified proteins with sex-based differences; both identified differences in myostatin and leptin, but each identified additional nonoverlapping sexually dimorphic proteins (n = 14 Olink, n = 5 SomaScan).
Conclusions
In adults with a Fontan circulation, correlations between plasma proteins measured by Olink and SomaScan varied widely, approximately in line with prior reports in other populations. While these tools may be uniquely useful to generate hypotheses, specifically regarding potential molecular mechanisms, more definitive inference requires independent validation.
{"title":"Correlation between Olink and SomaScan proteomics platforms in adults with a Fontan circulation","authors":"Ismael Z. Assi , Michael J. Landzberg , Kristian C. Becker , David Renaud , Fernando Baraona Reyes , David M. Leone , Mark Benson , Miriam Michel , Robert E. Gerszten , Alexander R. Opotowsky","doi":"10.1016/j.ijcchd.2025.100584","DOIUrl":"10.1016/j.ijcchd.2025.100584","url":null,"abstract":"<div><h3>Background</h3><div>High-throughput proteomics platforms using aptamers (SomaScan) or proximity extension assay (Olink) provide novel opportunities for improving diagnostic and risk stratification tools in cardiovascular diseases, including understudied congenital heart diseases. The correlation between these proteomics approaches has not yet been studied among individuals with a Fontan circulation.</div></div><div><h3>Objective</h3><div>The correlation of plasma protein measurements between SomaScan and Olink platforms was evaluated in adults with a Fontan circulation.</div></div><div><h3>Methods</h3><div>We measured 491 proteins in plasma of 71 adults with a Fontan circulation using Olink and SomaScan. Missing Olink measurements (0.13%, 47/34,861) were imputed using non-parametric imputation. Spearman's rank correlation coefficient for absolute values of protein expression between platforms was calculated. Protein correlation frequencies were compared to 3 cohorts reported in the literature using Pearson's Chi-squared test of independence.</div></div><div><h3>Results</h3><div>Overall, protein correlations between Olink and SomaScan measurements were moderately strong for most proteins, (rho > 0.4 for 57.2%), but with substantial variability (median correlation = 0.457, IQR = 0.538). The distribution of protein correlations was qualitatively similar to published literature in non-Fontan cohorts. Both Olink and SomaScan identified proteins with sex-based differences; both identified differences in myostatin and leptin, but each identified additional nonoverlapping sexually dimorphic proteins (n = 14 Olink, n = 5 SomaScan).</div></div><div><h3>Conclusions</h3><div>In adults with a Fontan circulation, correlations between plasma proteins measured by Olink and SomaScan varied widely, approximately in line with prior reports in other populations. While these tools may be uniquely useful to generate hypotheses, specifically regarding potential molecular mechanisms, more definitive inference requires independent validation.</div></div>","PeriodicalId":73429,"journal":{"name":"International journal of cardiology. Congenital heart disease","volume":"20 ","pages":"Article 100584"},"PeriodicalIF":0.8,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}