Adult Congenital Heart Disease: Advances in Diagnosis, Surgery, and Lifelong Care

Topic Information

Dear Colleagues,

The number of patients with adult congenital heart disease (ACHD) is increasing. ACHD has several complications, such as arrhythmia, organ failure, heart failure, and protein-losing enteropathy. Pulmonary hypertension is one of the most serious complications. Recently, pulmonary hypertension-targeted drugs have been developed and survival is improving. However, for long-term survival in ACHD patients with pulmonary hypertension, there is still room for improvement. In this Topic, we focus on advanced diagnosis, surgery, and lifelong care in ACHD. In particular, pulmonary hypertension in ACHD is the main topic of this Topic.

Topics may include but are not limited to the following:

• Multi-omics analysis for the understanding of ACHD pathogenesis.
• Novel treatment strategies in patients with simple ACHD and complicated ACHD.
• Biomarkers for identifying the outcome of ACHD.
• Precision medicine strategies for patients with ACHD-PAH.
• Clinical implications of predicting survival and progression risk for patient management and outcome, including risk-adopted treatment strategies and quality of life measures.
• A multidisciplinary approach to the management of patients with ACHD.

We encourage the submission of both original research articles and reviews. All submitted articles will be considered for peer review.

Dr. Satoshi Akagi
Dr. Jin Young Song
Topic Editors

Keywords

Participating Journals

Journal Name	Impact Factor	CiteScore	Launched Year	First Decision (median)	APC
Cardiogenetics cardiogenetics	0.9	1.4	2011	32.1 Days	CHF 1400	Submit
Hearts hearts	-	-	2020	19 Days	CHF 1000	Submit
Journal of Cardiovascular Development and Disease jcdd	2.3	3.7	2014	28.8 Days	CHF 2700	Submit
Journal of Clinical Medicine jcm	2.9	5.2	2012	17.7 Days	CHF 2600	Submit

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Published Papers (4 papers)

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All Cardiogenetics Hearts JCDD JCM

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10 pages, 1817 KB  

Open AccessArticle

Real-Life Measurement of Vasoregulation in Patients with Cyanotic Congenital Heart Disease: A Feasibility Study

by Reiner Buchhorn and Elisabeth Hofmann

Hearts 2025, 6(4), 33; https://doi.org/10.3390/hearts6040033 - 13 Dec 2025

Viewed by 114

Abstract

Background: In cardiology, vasoregulation is one of the most important targets of pharmacotherapy. SOMNOtouch™-NIBP (SOMNOmedics AG, Randersacker, Germany) is a cuffless device designed for continuous, non-invasive blood pressure measurements, and it appears to be ready for use in infants and children with congenital [...] Read more.

Background: In cardiology, vasoregulation is one of the most important targets of pharmacotherapy. SOMNOtouch™-NIBP (SOMNOmedics AG, Randersacker, Germany) is a cuffless device designed for continuous, non-invasive blood pressure measurements, and it appears to be ready for use in infants and children with congenital heart disease. For infants, minor methodological modifications are required due to their small body size. Methods: Using this device, we demonstrate fluctuations in diastolic blood pressure in three patients: an infant with hypoplastic left heart syndrome after Norwood stage 1 and 2 operations; an infant with Tetralogy of Fallot with heart failure due to pulmonary overcirculation after an aorto-pulmonary shunt implantation; and a 13-year-old girl with chronic cyanosis due to a congenitally corrected transposition of the great arteries (ccTGA) with a ventricular septal defect and pulmonary stenosis. The measurement procedures are completely non-invasive and feasible in an outpatient setting. Results: The results demonstrate strong correlations between blood pressure and oxygen saturation levels as well as heart rate variability. We discuss our results in relation to current concepts of hypoxic pulmonary/systemic vasoconstriction and hypoxemia-related pathways. Conclusions: The cuffless device for continuous, non-invasive blood pressure measurement seems to be useful for infants with and without congenital heart defects who receive pharmacotherapies that modulate vasoregulation. These patients should also be non-invasively monitored for safety reasons and for a better understanding of their pathophysiology. Full article

(This article belongs to the Topic Adult Congenital Heart Disease: Advances in Diagnosis, Surgery, and Lifelong Care)

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10 pages, 366 KB  

Open AccessCase Report

Reduced Ejection Fraction of the Systemic Right Ventricle and Severe Tricuspid Regurgitation: Medication or Surgery?

by Anton V. Minaev, Timur Y. Danilov, Diana P. Paraskevova, Vera I. Dontsova, Inna I. Trunina, Viktor B. Samsonov, Sofya M. Tsoy, Alexander S. Voynov and Julia A. Sarkisyan

J. Cardiovasc. Dev. Dis. 2025, 12(12), 482; https://doi.org/10.3390/jcdd12120482 - 8 Dec 2025

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Abstract

(1) Background: The systemic right ventricular (SRV) dysfunction and severe tricuspid regurgitation (TR) remain significant challenges in patients with congenitally corrected transposition of the great arteries (ccTGA) or following atrial switch procedures. Currently, there is no established, evidence-based medical therapy specifically designed for [...] Read more.

(1) Background: The systemic right ventricular (SRV) dysfunction and severe tricuspid regurgitation (TR) remain significant challenges in patients with congenitally corrected transposition of the great arteries (ccTGA) or following atrial switch procedures. Currently, there is no established, evidence-based medical therapy specifically designed for SRV failure, and treatment approaches are largely extrapolated from left ventricular heart failure (HF) guidelines. This therapeutic gap highlights the need for tailored pharmacologic strategies and optimized perioperative management in this unique population. The optimal timing of surgical intervention and the role of modern HF therapy are still under active investigation. (2) Methods: We present a case series of four patients (three adults and one child) with SRV dysfunction and severe TR, who underwent staged treatment consisting of optimized medical therapy followed by surgical tricuspid valve (TV) replacement. Medical therapy included positive inotropes, sacubitril/valsartan, sodium-glucose co-transporter 2 inhibitors (iSGLT2), beta-blockers, mineralocorticoid receptor antagonists (MRAs), and loop diuretics. (3) Results: All patients demonstrated clinical and hemodynamic improvement prior to surgery, with an increase in systemic ventricular ejection fraction (SVEF > 40%) and cardiac index. TV replacement was performed with favorable early postoperative outcomes and preserved ventricular function at mid-term follow-up. No mortality or major adverse events occurred during follow-up. One case of acute cystitis was associated with dapagliflozin. In all patients, postoperative SVEF remained >40%, and no recurrence of significant TR was observed. (4) Conclusions: A stepwise approach combining modern heart failure therapy and elective TV replacement in patients with SRV dysfunction and TR is safe and effective. Preoperative optimization leads to improved ventricular function and may enhance surgical outcomes. These findings support the integration of contemporary pharmacotherapy in the management strategy for SRV failure. Full article

(This article belongs to the Topic Adult Congenital Heart Disease: Advances in Diagnosis, Surgery, and Lifelong Care)

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21 pages, 3996 KB  

Open AccessArticle

Assessing the Characteristics of Modern Valvuloplasty Balloons Using a Robotic Non-Contact Optical Approach

by Jiazhe Tang, Xiaoyu Huang, Timothy Williams, David Hildick-Smith, Rodrigo Aviles-Espinosa and Elizabeth Rendon-Morales

Hearts 2025, 6(4), 25; https://doi.org/10.3390/hearts6040025 - 28 Oct 2025

Viewed by 2499

Abstract

Background: Balloon aortic valvuloplasty is a procedure for treating aortic stenosis, as well as being a preliminary step before transcatheter aortic valve implantation. Balloon aortic valvuloplasty requires inserting a balloon catheter into the aortic valve and repeatedly inflating it to widen the narrowed [...] Read more.

Background: Balloon aortic valvuloplasty is a procedure for treating aortic stenosis, as well as being a preliminary step before transcatheter aortic valve implantation. Balloon aortic valvuloplasty requires inserting a balloon catheter into the aortic valve and repeatedly inflating it to widen the narrowed valve. With a wide range of equipment, operators rely on manufacturer data to guide the balloon use during surgery. However, such data can have variations of up to 10%, which can affect the procedures’ efficacy. Methods: In this paper, we report a bench-top proof-of-concept, automated, non-contact optical system that combines a linear delta robot (ROMI) equipped with a bright-field microscopy system, image stitching, and passive autofocusing algorithms to measure the diameters of aortic valvuloplasty balloons inflated using clinically relevant pressures. The system also introduces a laser projection system, enabling the use of passive autofocus algorithms to allow measuring transparent balloons. We evaluate three balloon brands (TRUE Dilatation, Edwards, and Z-MED II) across commonly used sizes and compare the measured diameters with vendor specifications. The developed system allows us to systematically determine the balloons’ diameters with submillimeter-level accuracy. Results: The experimental data shows that the TRUE Dilatation balloon presented the smallest deviations from the manufacturers’ data, even though the 22 and 24 mm balloons exceeded the 1% tolerance by +2.26% (over-inflation) and −1.56% (under-inflation), respectively. The Edwards Lifesciences and Z-MED II balloons presented inflation diameter variations ranging from −5.97% to + 8.81%, which led to a deviation of the specified balloon diameter of 1.76 mm. The standard error value obtained within our measurements revealed that the balloon diameters were consistent despite multiple inflations and were also resilient to repeated inflations up to the rated burst pressure. Conclusions: These results demonstrate the potential of the system presented herein to be adapted for in situ, contactless pre-operative balloon assessment in clinical settings. Full article

(This article belongs to the Topic Adult Congenital Heart Disease: Advances in Diagnosis, Surgery, and Lifelong Care)

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13 pages, 218 KB  

Open AccessArticle

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

by Ann-Sophie Kaemmerer-Suleiman, Sebastian Freilinger, Annika Freiberger, Oliver Dewald, Stefan Achenbach, Gert Bischoff, Anna Engel, Peter Ewert, Frank Harig, Jürgen Hörer, Stefan Holdenrieder, Harald Kaemmerer, Renate Kaulitz, Frank Klawonn, Detlef Koch, Dirk Mentzner, Nicole Nagdyman, Rhoia Neidenbach, Wolfgang Schmiedeberg, Mathieu N. Suleiman, Elsa Ury, Robert David Pittrow, Leonard Bernhard Pittrow, Benjamin Alexander Pittrow, Fabian von Scheidt, Wolfgang Wagener, Nicole Wolfrum, Michael Huntgeburth and Fritz Mellertadd Show full author list remove Hide full author list

J. Clin. Med. 2025, 14(12), 4355; https://doi.org/10.3390/jcm14124355 - 18 Jun 2025

Viewed by 1047

Abstract

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, gastrointestinal complications, and psychological factors such as anxiety and depression. [...] Read more.

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, gastrointestinal complications, and psychological factors such as anxiety and depression. Despite its critical implications, few studies have examined this association. This study evaluates the relationship between HF and underweight—defined as a body mass index (BMI) < 18.5—in ACHD. Methods: The Pathfinder-CHD Registry is a prospective, observational, web-based HF registry including ACHD with manifest HF, history of HF, or significant risk for HF. It documents congenital diagnoses, HF type, comorbidities, and treatments. Patients were categorized by BMI into mild (17.00–18.49), moderate (16.00–16.99), and severe (<16.00) underweight. Results: As of September 2024, the registry enrolled 1420 adults (mean age 31.8±11.3 years; 49.2% female). Underweight was present in 59 patients (4.2%): 62.7% mild, 18.6% moderate, and 18.6% severe. Among the remaining 1361 patients, 52.8% had normal weight, 32.8% were overweight, and 14.2% were obese. Women had significantly lower metabolic body weight than men (p = 0.002). Underweight correlated with younger age (p < 0.001) and CHD type (p = 0.02). Notably, 42.9% of underweight patients had cyanotic CHD. Conclusions: Underweight is an underrecognized problem in ACHD with HF. Adults with complex CHD or connective tissue disorders are disproportionately affected. Underweight should be seen as an alarm sign requiring personalized, multidisciplinary management, including nutritional support, tailored therapy, and close monitoring to improve outcomes. Full article

(This article belongs to the Topic Adult Congenital Heart Disease: Advances in Diagnosis, Surgery, and Lifelong Care)

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