Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations.
A new CT-based diagnostic method of protrusio acetabuli (PA) was introduced. However, prevalence of PA by this method and correlation between PA and other manifestations of Marfan syndrome (MFS) is unknown in Korean MFS patients. This study aimed to investigate the prevalence of PA diagnosed by a CT-based method in Korean patients with MFS, the association of PA with other manifestations of MFS, and the contribution of PA to MFS diagnosis. We retrospectively reviewed the records of 146 MFS patients with the presence of a causative FBN1 mutation and 146 age- and sex-matched controls from a single tertiary care center. All MFS patients underwent a complete assessment of criteria based on the revised Ghent nosology. PA was assessed quantitatively using a CT-based circle-wall distance (CWD) method. PA was diagnosed in 77.4% of patients in the MFS group and in 11.0% of the control group. CWD was significantly different between the two groups (1.50 mm vs. -0.64 mm, P<0.001). The presence of PA did not correlate with the presence of ectopia lentis, aortic root diameter, or history of aortic dissection. The presence of PA did not have a significant impact on the final diagnosis of MFS. Even though the presence of PA does not related to the cardinal clinical features of MFS or influence MFS diagnosis, its presence may be helpful for the suspicion of MFS when aortic dissection or aneurysm is found on CT angiography of the aorta because of the high frequency of PA in MFS patients.
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kwang Jin
KJ
Chun
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Department of Critical Care Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jeong Hoon
JH
Yang
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Shin Yi
SY
Jang
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Seung Hwa
SH
Lee
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Hye Bin
HB
Gwag
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Tae-Young
TY
Chung
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
June
J
Huh
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Chang-Seok
CS
Ki
Department of Thoracic and Cardiovascular Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kiick
K
Sung
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Seung-Hyuk
SH
Choi
Department of Radiology, Cardiovascular and Stroke Imaging Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Sung Mok
SM
Kim
Department of Radiology, Cardiovascular and Stroke Imaging Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Yeon Hyeon
YH
Choe
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Duk-Kyung
DK
Kim
D000077:Acetabulum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001014:Aortic Aneurysm / Q000000981:diagnostic imaging / Q000453:epidemiology*; D015897:Comorbidity; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging* / Q000453:epidemiology*; D008875:Middle Aged; D015995:Prevalence; D015203:Reproducibility of Results; D056910:Republic of Korea / Q000453:epidemiology; D012307:Risk Factors; D012680:Sensitivity and Specificity; D014057:Tomography, X-Ray Computed / Q000379:methods* / Q000706:statistics & numerical data*; D055815:Young Adult
Computed Tomography; FBN1 Mutation; Marfan Syndrome; Protrusio Acetabuli