Universität zu Köln

Stasek, Stefanie ORCID: 0009-0009-0195-9428, Kronenberger, Julia, Germund-Maiwald, Ingo, Junghänel-Welzing, Shino, Reincke, Susanna, Semler, Oliver ORCID: 0000-0003-0029-7556, Hoyer-Kuhn, Heike ORCID: 0000-0001-5297-3662 and Rehberg, Mirko ORCID: 0000-0001-9534-4102 (2026). Cardiac manifestations in children with osteogenesis imperfecta: A single-center observational study. International Journal of Cardiology, 443. pp. 1-7. Elsevier. ISSN 0167-5273

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Abstract

[Artikel-Nr.: 133922] Background: Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder characterized by defective type I collagen synthesis. In the cardiovascular system, type I collagen provides tensile strength and structural integrity to the myocardium, cardiac valves, chordae tendineae and great vessels. OI may therefore predispose affected individuals to various cardiovascular diseases. Limited existing literature suggests an increased risk of developing heart failure and valvular diseases in adults with OI, but data on cardiac involve- ment in pediatric OI remains limited. Objectives: This study aimed to investigate the prevalence and characteristics of structural and functional cardiac abnormalities in children with OI. Methods: In 78 children (aged 1–18 years) with OI, pediatric cardiologists performed standardized ECG and echocardiographic evaluations. Z-scores were calculated using pediatric reference values and compared between OI subtypes. Results: None of our patients had clinically significant arrhythmias or required cardiovascular medication. Congenital heart defects were identified in 13 % of patients, most commonly ASD and PDA. Mild aortic or mitral valve regurgitation were observed in 7.3 % and 8.7 % of patients and aortic root dilation in 8.7 %, predominantly in moderate to severe OI. Aortic root and annulus diameters correlated with disease severity. Left ventricular systolic function and diastolic function were normal in all patients. Conclusions: Clinically relevant cardiovascular disease is rare in children with OI, but mitral and aortic valve regurgitations and aortic root dilation are more prevalent in severe phenotypes. Echocardiographic screening should be considered before transition to adult care in patients with moderate to severe OI.

Item Type:	Article
Creators:	Creators Email ORCID ORCID Put Code Stasek, Stefanie UNSPECIFIED https://orcid.org/0009-0009-0195-9428 UNSPECIFIED Kronenberger, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED Germund-Maiwald, Ingo UNSPECIFIED UNSPECIFIED UNSPECIFIED Junghänel-Welzing, Shino UNSPECIFIED UNSPECIFIED UNSPECIFIED Reincke, Susanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED https://orcid.org/0000-0003-0029-7556 UNSPECIFIED Hoyer-Kuhn, Heike UNSPECIFIED https://orcid.org/0000-0001-5297-3662 UNSPECIFIED Rehberg, Mirko UNSPECIFIED https://orcid.org/0000-0001-9534-4102 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-810365
Identification Number:	10.1016/j.ijcard.2025.133922
Journal or Publication Title:	International Journal of Cardiology
Volume:	443
Page Range:	pp. 1-7
Number of Pages:	7
Date:	15 January 2026
Publisher:	Elsevier
ISSN:	0167-5273
Language:	English
Faculty:	Faculty of Medicine
Divisions:	Faculty of Medicine > Kinder- und Jugendmedizin > Klinik und Poliklinik für Kinder- und Jugendmedizin
Subjects:	Music
Uncontrolled Keywords:	Keywords Language Osteogenesis imperfecta ; Pediatric cardiology ; Echocardiography ; Collagen type I ; Collagenopathies ; Valvulopathies English
['eprint_fieldname_oa_funders' not defined]:	Publikationsfonds UzK
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/81036