Sebastian Freilinger
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View article: Molecular Drivers of Vascular Adaptation in Young Athletes: An Integrative Analysis of Endothelial, Metabolic and Lipoprotein Biomarkers
Molecular Drivers of Vascular Adaptation in Young Athletes: An Integrative Analysis of Endothelial, Metabolic and Lipoprotein Biomarkers Open
Adolescence is a critical window for cardiovascular (CV) development, yet the molecular drivers of vascular adaptation to regular exercise in youth remain poorly understood. This cross-sectional study assessed vascular structure and functi…
View article: Sex- and Age-Specific Trajectories of Hemoglobin and Aerobic Power in Competitive Youth Athletes
Sex- and Age-Specific Trajectories of Hemoglobin and Aerobic Power in Competitive Youth Athletes Open
Maximal aerobic power (V̇O2peak) in youth depends on hemoglobin (Hb)—mediated oxygen transport. While sex- and age-specific patterns are established in untrained cohorts, further research is needed in competitive adolescent athletes. We stu…
View article: Dual Disease Burden: Growing Older with Congenital Heart Disease and Hereditary Metabolic and Connective Tissue Disorders—Data from the PATHFINDER-CHD Registry on Heart Failure
Dual Disease Burden: Growing Older with Congenital Heart Disease and Hereditary Metabolic and Connective Tissue Disorders—Data from the PATHFINDER-CHD Registry on Heart Failure Open
Background: Advances in diagnosis and treatment have led to a growing population of adults with congenital heart disease (ACHD). Despite increasing life expectancy, their clinical needs—especially in older age—remain poorly defined. Cardia…
View article: Antioxidant-Enzyme Profiles in Youth Athletes: Associations of SOD and GPX with Exercise and Implications for Endothelial Health
Antioxidant-Enzyme Profiles in Youth Athletes: Associations of SOD and GPX with Exercise and Implications for Endothelial Health Open
Oxidative stress is a key driver of endothelial dysfunction and early cardiovascular risk. Antioxidant enzymes such as superoxide dismutase (SOD) and glutathione peroxidase (GPX) are vital for vascular protection, especially during growth.…
View article: Symptoms of post-traumatic distress and quality of life in adults with aortopathy and congenital heart defects or hereditary connective tissue diseases
Symptoms of post-traumatic distress and quality of life in adults with aortopathy and congenital heart defects or hereditary connective tissue diseases Open
Despite the low prevalence of PTSS and generally good QoL, our findings underscore the importance of incorporating psychological screening into standard care for patients with CHD or HCTD with aortopathies. A holistic approach that goes be…
View article: Overweight and Obesity in Adults with Congenital Heart Disease and Heart Failure: Real-World Evidence from the PATHFINDER-CHD Registry
Overweight and Obesity in Adults with Congenital Heart Disease and Heart Failure: Real-World Evidence from the PATHFINDER-CHD Registry Open
Background: The PATHFINDER-CHD Registry is a prospective, multicenter, non-interventional registry across tertiary care centers in Germany. The aim is to analyze real-world data on adults with congenital heart defects (ACHD) or hereditary …
View article: Beyond the Scale: The Hidden Burden of Underweight and Cachexia in Adults with Congenital Heart Defects and Heart Failure—Results from the Pathfinder CHD-Registry
Beyond the Scale: The Hidden Burden of Underweight and Cachexia in Adults with Congenital Heart Defects and Heart Failure—Results from the Pathfinder CHD-Registry Open
Background/Objectives: Heart failure (HF) poses a major challenge in managing adults with congenital heart defects (ACHD). Emerging evidence suggests that HF in ACHD increases the risk of underweight due to heightened metabolic demands, ga…
View article: Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance—part 2: cardiological rehabilitation
Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance—part 2: cardiological rehabilitation Open
Congenital heart defects (CHD) represent the most common inborn organ anomaly, with more than a million newborns affected annually. Advances in diagnostics and treatment have led to significantly improved survival rates, resulting in a gro…
View article: Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance—part 1: preventive cardiology and prehabilitation
Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance—part 1: preventive cardiology and prehabilitation Open
Congenital heart defects (CHD) are the most common inborn cardiac anomalies, with approximately 1.35 million children born each year worldwide. Advances in medical treatment over recent decades have reduced mortality, yet morbidity remains…
View article: “Real world” medical care of patients with Fabry disease by primary care physicians, internists or general practitioners
“Real world” medical care of patients with Fabry disease by primary care physicians, internists or general practitioners Open
Using a novel patient-reported questionnaire, this study reveals for the first time the state of medical care of FD-patients under "real life" conditions. This study highlights significant deficiencies in the medical care of FD patients in…
View article: Establishing a cardiology registry: navigating quality and regulatory challenges with a focus on congenital heart disease
Establishing a cardiology registry: navigating quality and regulatory challenges with a focus on congenital heart disease Open
Registries have become pivotal in medical research, offering a robust foundation for understanding disease incidence, treatment patterns, and patient outcomes across diverse populations. By aggregating real-world data (RWD), registries pro…
View article: Artificial intelligence-based, non-invasive assessment of the central aortic pressure in adults after operative or interventional treatment of aortic coarctation
Artificial intelligence-based, non-invasive assessment of the central aortic pressure in adults after operative or interventional treatment of aortic coarctation Open
Background Aortic coarctation (CoA) is a congenital anomaly leading to upper-body hypertension and lower-body hypotension. Despite surgical or interventional treatment, arterial hypertension may develop and contribute to morbidity and mort…
View article: Post-traumatic Distress in Adults with Congenital Heart Disease: Protective Factors and Clinical Implications
Post-traumatic Distress in Adults with Congenital Heart Disease: Protective Factors and Clinical Implications Open
Background Due to various reasons explored in previous studies, adults with congenital heart disease (ACHD) are at risk of developing post-traumatic stress symptoms (PTSS). The aim of this study is to explore multiple potential psychosocia…
View article: Pulmonary hypertension in adults with congenital heart defects (ACHDs) in light of the 2022 ESC PAH guidelines—part II: supportive therapy, special situations (pregnancy, contraception, non-cardiac surgery), targeted pharmacotherapy, organ transplantation, special management (shunt lesion, left ventricular disease, univentricular hearts), interventions, intensive care, ACHD follow-up, future perspective
Pulmonary hypertension in adults with congenital heart defects (ACHDs) in light of the 2022 ESC PAH guidelines—part II: supportive therapy, special situations (pregnancy, contraception, non-cardiac surgery), targeted pharmacotherapy, organ transplantation, special management (shunt lesion, left ventricular disease, univentricular hearts), interventions, intensive care, ACHD follow-up, future perspective Open
The number of adults with congenital heart defects (ACHDs) is steadily increasing and is about 360,000 in Germany. Congenital heart defect (CHD) is often associated with pulmonary hypertension (PH), which sometimes develops early in untrea…
View article: Pulmonary hypertension in adults with congenital heart defects (ACHDs)—in light of the 2022 ESC PAH guidelines—part I: definition, epidemiology, classification, diagnostics, genetics, risk stratification and follow-up, gender aspects
Pulmonary hypertension in adults with congenital heart defects (ACHDs)—in light of the 2022 ESC PAH guidelines—part I: definition, epidemiology, classification, diagnostics, genetics, risk stratification and follow-up, gender aspects Open
The number of adults with congenital heart defects (ACHDs) is steadily increasing and is about 360,000 in Germany. Congenital heart defect (CHD) is often associated with pulmonary hypertension (PH), which sometimes develops early in untrea…
View article: Continuous Long-Term Assessment of Heart Rate Variability in Adults with Cyanotic Congenital Heart Disease after Surgical Repair
Continuous Long-Term Assessment of Heart Rate Variability in Adults with Cyanotic Congenital Heart Disease after Surgical Repair Open
Background: Heart rate variability (HRV) is an established, non-invasive parameter for the assessment of cardiac autonomic nervous activity and the health status in general cardiology. However, there are few studies on HRV in adults with c…
View article: PATHFINDER-CHD: prospective registry on adults with congenital heart disease, abnormal ventricular function, and/or heart failure as a foundation for establishing rehabilitative, prehabilitative, preventive, and health-promoting measures: rationale, aims, design and methods
PATHFINDER-CHD: prospective registry on adults with congenital heart disease, abnormal ventricular function, and/or heart failure as a foundation for establishing rehabilitative, prehabilitative, preventive, and health-promoting measures: rationale, aims, design and methods Open
Background Adults with congenital heart defects (ACHD) globally constitute a notably medically underserved patient population. Despite therapeutic advancements, these individuals often confront substantial physical and psychosocial residua…
View article: Clinical aspects and targeted inspiratory muscle training in children and adolescents with Fontan circulation: a randomized controlled trial
Clinical aspects and targeted inspiratory muscle training in children and adolescents with Fontan circulation: a randomized controlled trial Open
German Clinical Trials Register; DRKS.de; registration ID: DRKS00030340.
View article: The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome
The relation of aortic dimensions and obesity in adults with Marfan or Loeys-Dietz syndrome Open
While a slender habitus is commonly known for MFS and LDS patients, our data show that many MFS and LDS patients (especially female) do not fit this phenotypic characteristic and are obese, which is associated with a more severe aortic phe…
View article: Quality of life in adults with congenital heart disease with and without pulmonary hypertension: a comparative study
Quality of life in adults with congenital heart disease with and without pulmonary hypertension: a comparative study Open
Since QOL is a significant predictor of outcome, PH-CHD patients need an early provision of psychosocial, health promoting support in addition to dedicated care and targeted PH treatment. It is therefore pivotal to timely identify unique p…
View article: Healthcare status of adults with pulmonary hypertension due to congenital heart disease
Healthcare status of adults with pulmonary hypertension due to congenital heart disease Open
BACKGROUND: In the long-term course of treated and untreated congenital heart defects (CHD), pulmonary hypertension (PH) is one of the most relevant complications. Since PH carries a high risk for mortality and morbidity, it is important t…
View article: Long-term course of pulmonary arterial hypertension in adults with congenital heart disease under targeted therapy: a retrospective analysis of a single tertiary center
Long-term course of pulmonary arterial hypertension in adults with congenital heart disease under targeted therapy: a retrospective analysis of a single tertiary center Open
Many patients with PAH-CHD benefited from targeted PAH therapy over a median period of 6.2 years. Treatment decisions after targeted PAH-medication initiation were based mainly on clinical assessment. To counteract disease progression, an …
View article: Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults
Quality of life in patients with Fabry’s disease: a cross-sectional study of 86 adults Open
Patients with FD are at high risk for impaired QOL. They require additional support to cope with disease-related challenges. Increased attention should be directed towards improving their subjective well-being to potentially increase their…
View article: Psychosocial well-being in postpartum women with congenital heart disease
Psychosocial well-being in postpartum women with congenital heart disease Open
Postpartum mental health problems, such as (postpartum) depression, anxiety, and posttraumatic stress can become a serious burden which might be detrimental to the mother's well-being and her infant's development. Present findings emphasis…
View article: Bioelectrical Impedance Analysis as a Contemporary Biomarker of Obesity in Adults with Marfan- or Loeys-Dietz-Syndrome
Bioelectrical Impedance Analysis as a Contemporary Biomarker of Obesity in Adults with Marfan- or Loeys-Dietz-Syndrome Open
Background: It is clinically widely overlooked that many patients with Marfan- (MFS) or Loeys-Dietz-Syndrome (LDS) are obese. While anthropometric routine parameters are not very suitable, the modern Bioelectrical Impedance Analysis (BIA) …
View article: Medical treatment of pulmonary hypertension in adults with congenital heart disease: updated and extended results from the International COMPERA-CHD Registry
Medical treatment of pulmonary hypertension in adults with congenital heart disease: updated and extended results from the International COMPERA-CHD Registry Open
www.clinicaltrials.gov, study identifier: Clinicaltrials.gov NCT01347216.
View article: Differences in the experiences and perceptions of men and women with congenital heart defects: A call for gender-sensitive, specialized, and integrative care
Differences in the experiences and perceptions of men and women with congenital heart defects: A call for gender-sensitive, specialized, and integrative care Open
Background: Although there is sufficient evidence that sex-/gender-based differences can influence treatment decisions and healthcare for adults with congenital heart disease (ACHD), there are major research shortfalls in this regard. The …
View article: Implantable loop recorder for monitoring patients with congenital heart disease
Implantable loop recorder for monitoring patients with congenital heart disease Open
In symptomatic CHD-patients at risk for life-threatening cardiac events, ILR has a considerable complementary diagnostic value for the detection and differentiation of benign and malignant arrhythmias. Considering the overall low risk of c…
View article: Lessons from the short- and mid-term outcome of medical rehabilitation in adults with congenital heart disease
Lessons from the short- and mid-term outcome of medical rehabilitation in adults with congenital heart disease Open
The current study provided for the first time comprehensive data on the course of rehabilitation in a large cohort of ACHD after surgical or interventional treatment. The overall outcome of ACHD after rehabilitation was uneventful and favo…
View article: ‘Well-being paradox’ revisited: a cross-sectional study of quality of life in over 4000 adults with congenital heart disease
‘Well-being paradox’ revisited: a cross-sectional study of quality of life in over 4000 adults with congenital heart disease Open
Objective The present cross-sectional study investigated quality of life (QOL) in a large cohort of German adults with congenital heart disease (ACHDs) in association with patient-related and clinical variables. Design Cross-sectional surv…