Abstract and Introduction
Study Design: A retrospective study of the prospective cohort.
Objective: To demonstrate the accurate distribution of the severity of scoliosis in patients with Marfan syndrome, and to identify the predictive physical features for progression of scoliosis in Marfan syndrome.
Summary of Background Data: To date, no study has unveiled the risk factors for the progression of scoliosis in Marfan syndrome.
Methods: We retrospectively obtained data from a prospective cohort of the Marfan syndrome clinic at our institute. We enrolled patients whose whole spine radiographs in the standing position were evaluated at the age of 15 or above, from January 2014 to March 2020. The collected variables were physical manifestations defined as in the systemic score of the revised Ghent nosology. We classified the degree of scoliosis into four categories: "not apparent," "mild" (10° ≤ Cobb < 25°), "moderate" (25° ≤ Cobb < 40°), and "severe" (40° ≤ Cobb or surgery conducted). To identify the risk factors for progression of scoliosis in Marfan syndrome, we conducted univariate and multivariate association analyses between severe scoliosis and each physical manifestation.
Results: We identified 131 eligible patients (61 men and 70 women) with a mean age of 31.2 years. Scoliosis with a Cobb angle of ≥10° was identified in 116 patients (88.5%). Moderate scoliosis was identified in 33 patients (25.2%) and severe scoliosis in 53 patients (40.5%). The prevalence of each physical manifestation was equivalent to that reported in previous studies. Multivariate logistic regression analysis revealed that female sex (odds ratio, 3.27) and positive wrist sign (4.45) were predictive factors for progression of scoliosis into severe state in patients with Marfan syndrome.
Conclusions: The present study demonstrated the accurate distribution of the severity of scoliosis and identified the predictive factors for progression of scoliosis in patients with Marfan syndrome.
Level of Evidence: 3
Marfan syndrome was first described by Antoine-Bernard Marfan in 1896 and is caused by heterozygous pathogenic variants in the FBN1 gene that encodes fibrillin-1.[1,2] Marfan syndrome is characterized by several clinical manifestations, including dilation of the aortic root, ectopia lentis, and characteristic skeletal features. Diagnosis of Marfan syndrome can be difficult at times because clinical manifestations in patients with Marfan syndrome can vary between patients.[3–6] From this perspective, there have been changes to the diagnostic criteria for Marfan syndrome for the purpose of improving the diagnostic accuracy. Today, the revised Ghent nosology is widely used for the diagnosis of Marfan syndrome.[7–9] One of the features of this revised nosology is that various skeletal manifestations are calculated as systemic scores, and that a positive systemic score (≥7 points) alone does not fulfill the criteria for the diagnosis of Marfan syndrome.
Among the several musculoskeletal manifestations in patients with Marfan syndrome, spinal deformity can be the biggest problem for their activities of daily life in terms of both pain and restrictive ventilatory impairment; hence, adequate management of spinal deformity in these patients is essential. In particular because life expectancy in these patients has improved over the last few decades, as a result of better medical and surgical management for cardiovascular conditions, the importance of appropriate control of spinal deformity is rapidly increasing.[10,11]
Several studies have described the difficulties in the management of spinal deformity in patients with Marfan syndrome. Regarding conservative treatment, the success rate of brace treatment for scoliosis in Marfan syndrome is known to be much lower than that for idiopathic scoliosis, probably due to increased progressive forces.[12–14] Meanwhile, surgical management of spinal deformity in Marfan syndrome is reported to be accompanied with a higher incidence of complications compared with that in the idiopathic condition.[15–19] Therefore, it is crucially important to predict the progression of scoliosis in patients with Marfan syndrome. This enables us to initiate an early intervention in patients at high risk for progression; however, to date, no study has unveiled the risk factors for the progression of scoliosis in Marfan syndrome. Hence, the present study aimed to demonstrate in detail the prevalence of each physical manifestation described in the systemic score and the accurate distribution of the severity of scoliosis as well as to elucidate the risk factors for the progression of scoliosis in patients with Marfan syndrome.
Spine. 2021;46(15):1020-1025. © 2021 Lippincott Williams & Wilkins