Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome

Yuki Taniguchi, MD, PhD; Yoshitaka Matsubayashi, MD; So Kato, MD, PhD; Toru Doi, MD, PhD; Norifumi Takeda, MD, PhD; Hiroki Yagi, MD, PhD; Ryo Inuzuka, MD, PhD; Yasushi Oshima, MD, PhD; Sakae Tanaka, MD, PhD

Disclosures

Spine. 2021;46(15):1020-1025. 

In This Article

Results

Demographic Data and the Distribution of Scoliosis Severity

We identified a total of 131 eligible patients. The patients comprised 61 men (46.6%) and 70 women (53.4%) with a mean age of 31.2 years (Table 2). Genetic tests were conducted in 95 patients, and pathogenic variants in the FBN1 gene were detected in 88 patients, while in the seven remaining patients, no pathogenic and/or likely pathogenic variant was detected by the DNA target sequence[20] (Table 2). Regarding scoliosis in the studied population, scoliosis with Cobb angle ≥ 10° was identified in 116 patients (88.5%). Among these patients, moderate scoliosis with Cobb angles from 25° to 40° was identified in 33 patients (25.2%), and severe scoliosis with a Cobb angle ≥ 40° or surgery was identified in 53 patients (40.5%) (Table 2). All operations were identified as being performed for scoliosis or kyphoscoliosis.

Prevalence of Each Physical Feature in the Systemic Score

The prevalence of each physical manifestation described in the systemic score is shown in Figure 1. Wrist signs and thumb signs were identified in 103 patients (78.6%) and 94 patients (71.8%), respectively. Regarding chest deformity, pectus carinatum was found in 26 patients (19.8%), pectus excavatum in 37 (28.2%), and chest asymmetry in 21 (16.0%). Pes planus was apparent in 86 cases (65.6%), and severe pes planus with hindfoot deformity was found in 63 cases (48.1%). Previous pneumothorax was reported in 38 patients (29.0%). Scoliosis with a Cobb angle ≥ 20° or exaggerated thoracolumbar kyphosis was identified in 110 patients (84.0%). Lumbosacral computed tomography or magnetic resonance images were available in 88 patients, and dural ectasia was identified in 70 patients (79.5%). Protrusio acetabuli was identified in 64 cases (48.9%) and reduced elbow extension in 14 cases (10.7%). Characteristic facial features ≥3/5 were found in 32 patients (24.4%) and skin striae in 94 patients (71.8%). Transthoracic echocardiography data were available for 122 patients, and mitral valve prolapse was identified in 53 patients (43.4%).

Figure 1.

Prevalence of each manifestation described in the systemic score in patients with Marfan syndrome. Among 131 patients, lumbosacral computed tomography or magnetic resonance images for judgment of dural ectasia were available in 88 patients. Transthoracic echocardiography data were available for 122 patients. TL indicates thoracolumbar.

Identification of Risk Factors for Severe Scoliosis by Univariate and Multivariate Analysis

To identify the risk factors for progression of scoliosis in Marfan syndrome, we conducted an association analysis between severe scoliosis and each physical manifestation investigated in Figure 1. Univariate analysis showed that female sex, positive wrist sign, and presence of dural ectasia were significantly, and protrusio acetabuli was marginally associated with severe scoliosis (Table 3). Multivariate logistic regression analysis revealed that female sex (odds ratio, 3.274; 95% confidence interval, 1.25–8.58) and positive wrist sign (4.45; 1.13–17.5) were the predictive factors for the progression of scoliosis into severe state in patients with Marfan syndrome (Table 4).

processing....