TY - JOUR
T1 - Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature
AU - Verdonk, Sara J. E.
AU - Storoni, Silvia
AU - Micha, Dimitra
AU - van den Aardweg, Joost G.
AU - Versacci, Paolo
AU - Celli, Luca
AU - de Vries, Ralph
AU - Zhytnik, Lidiia
AU - Kamp, Otto
AU - Bugiani, Marianna
AU - Eekhoff, Elisabeth M. W.
N1 - Publisher Copyright: © The Author(s) 2024.
PY - 2024/3
Y1 - 2024/3
N2 - Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted that included articles from the inception of these databases to April 2023. Valvular disease, heart failure, atrial fibrillation, and hypertension appear to be more prevalent in OI than in control individuals. Moreover, a larger aortic root was observed in OI compared to controls. Various cardiovascular diseases appear to be more prevalent in OI than in controls. These cardiovascular abnormalities are observed in all types of OI and at all ages, including young children. As there are insufficient longitudinal studies, it is unknown whether these abnormalities are progressive in nature in OI patients. Based on these findings, we would recommend referring individuals with OI to a cardiologist with a low-threshold.
AB - Osteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted that included articles from the inception of these databases to April 2023. Valvular disease, heart failure, atrial fibrillation, and hypertension appear to be more prevalent in OI than in control individuals. Moreover, a larger aortic root was observed in OI compared to controls. Various cardiovascular diseases appear to be more prevalent in OI than in controls. These cardiovascular abnormalities are observed in all types of OI and at all ages, including young children. As there are insufficient longitudinal studies, it is unknown whether these abnormalities are progressive in nature in OI patients. Based on these findings, we would recommend referring individuals with OI to a cardiologist with a low-threshold.
KW - Aortic root dilatation
KW - Cardiovascular disease
KW - Collagen type I
KW - Osteogenesis imperfecta
UR - http://www.scopus.com/inward/record.url?scp=85182693769&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/s00223-023-01171-3
DO - https://doi.org/10.1007/s00223-023-01171-3
M3 - Review article
C2 - 38243143
SN - 0171-967X
VL - 114
SP - 210
EP - 221
JO - Calcified tissue international
JF - Calcified tissue international
IS - 3
ER -