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 (1 paper)

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All Cardiogenetics Hearts JCDD JCM

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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

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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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