Anatomical Characteristics and Potential Gene Mutation Sites of a Familial Recurrent Patellar Dislocation

Background Recurrent patellar dislocation is the result of anatomical alignment and imbalance of restraint of bone and soft tissue. To investigate the anatomical characteristics of the knee joint in a family of patients with recurrent patella dislocation, and to screen the possible pathogenic genes in this family by whole exon sequencing in 4 patients and 4 healthy subjects, so as to provide theoretical basis for the pathogenesis of this disease. Methods The data related to patella dislocation were measured by imaging data. The peripheral blood DNA of related family members was extracted for full exon sequencing, and then the sequencing results were compared with the human database. By filtering out synonymous mutations and high-frequency mutations, and then integrating single nucleotide non-synonymous mutations of family members, disease-causing genes were found. Results All patients in this family have different degree of abnormal knee anatomy, which is closely related to patella dislocation. The sequencing results of patients and normal persons in this patella dislocation family were compared and analyzed, and the data were filtered through multiple biological databases. Find HOXB9(NM_024017.4:p.Glu135Gly/c.404A>G),COL1A1(NM_000088.3:p.Ala1256 Thr/c.3766G>A),GNPAT(NM_014236.3:p.Asp519Gly/c1556A>G),NANS(NM_018946.3:p.Glu68Asp/c.204G>C),SLC26A2(NM_000112.3:p.Thr689Ser/c.2065A>T) are not synonymous mutations (MISSENSE). Through Sanger sequencing, HOXB9 and SLC26A2 genes were found to be the pathogenic genes of this family with recurrent patella dislocation. Conclusions The anatomical structure of the knee joint of patients with recurrent patellar dislocation in this family is obviously abnormal. HOXB9 mutation may be the high frequency pathogenic gene of recurrent patella dislocation in this family, while COL1A1, GNPAT, NAans, SLC26A2 gene may be the sporadical pathogenic gene.

Medial patellofemoral ligament reconstruction combined with biplanar supracondylar femoral derotation osteotomy in recurrent patellar dislocation with increased femoral internal torsion and genu valgum: a retrospective pilot study

Background The purpose of this study was to evaluate the clinical and radiographic outcomes after medial patellofemoral ligament (MPFL) reconstruction combined with supracondylar biplanar femoral derotation osteotomy (FDO) in recurrent patellar dislocation (RPD) with increased femoral anteversion angle (FAA) and genu valgum. Methods Between January 2017 to December 2020, a total of 13 consecutive patients (13 knees, 4 males and 9 females, mean age 18.7 (range, 15–29 years) with RPD with increased FAA (FAA > 25°) and genu valgum (mechanical axis deformity of ≥5°) who underwent supracondylar biplanar FDO using a Tomofix-locking plate combined with MPFL reconstruction in our institution were included. Preoperative full-leg standing radiographs, lateral views, and hip-knee-ankle computed tomography (CT) scans were used to evaluate the mechanical lateral distal femoral angle (mLDFA), anatomical femorotibial angle (aFTA), mechanical axis, patellar height, tibial tubercle-trochlear groove (TT-TG) distance, and torsional angle of the tibial and femoral in the axial plane. Patient reported outcomes were evaluated using the International Knee Documentation Committee (IKDC) score, Kujala score, Lysholm score, visual analog scale (VAS), and Tegner score preoperatively and postoperatively. Postoperative CT scans were used to evaluate the changes of FAA and TT-TG, and full-leg standing radiographs was used to evaluate the changes of mLDFA, aFTA, and mechanical axis. Results A total of 13 patients (13 knees) were included with an average follow-up period of 26.7 months (range 24–33). No cases developed wound infection, soft tissue irritation, and recurrent patellar dislocation during the follow-up period after surgery. Bone healing at the osteotomy site was achieved in all cases, and all patients regained full extension and flexion. Clinical outcomes (VAS, Kujala, IKDC, Lysholom, and Tegner scores) improved significantly at the final follow-up after surgery (p < 0.05). The mean mLDFA, aFTA, mechanical axis, and TT-TG distance showed statistically significant improvement following the combined surgery (p < 0.05), while the CDI did not change significantly after surgery (p>0.05). Conclusion MPFL reconstruction combined with supracondylar biplanar FDO showed satisfactory clinical outcomes and radiographic results in the short-term follow-up period.

Derotational Femoral Osteotomy for Treating Recurrent Patellar Dislocation in the Presence of Increased Femoral Anteversion: A Systematic Review

Background: Studies on the clinical outcomes of derotational femoral osteotomy to treat recurrent patellar dislocation in the presence of increased femoral anteversion are limited. Purpose: To investigate the role of derotational femoral osteotomy in the treatment of recurrent patellar dislocation in the presence of increased femoral anteversion. Study Design: Systematic review; Level of evidence, 4. Methods: A systematic review was performed according to the PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and Meta-analyses) by searching the Medline, Embase, Web of Science, and Cochrane Library databases through February 10, 2021. Included were studies of skeletally mature patients presenting with recurrent patellar dislocation and exhibiting increased femoral anteversion who subsequently underwent derotational femoral osteotomy. Methodological quality was assessed using the MINORS (Methodological Index for Nonrandomized Studies) score. The basic characteristics of each study were recorded and analyzed: characteristic information, radiological parameters, surgical techniques, patient-reported outcomes, and complications. Results: A total of 6 studies with 163 patients (170 knees) were included. Sample sizes ranged from 7 to 66 patients, and the patients were predominantly women (range, 79%-100%). The mean age and follow-up ranges were 18 to 28 years and 16 to 44 months, respectively. The mean femoral anteversion decreased significantly from 34° preoperatively to 12° postoperatively. In studies reporting pre- and postoperative outcomes, significant improvements were found in the Lysholm score (from 24.8 to 44.1), Kujala score (from 15.8 to 41.9), International Knee Documentation Committee score (from 11.0 to 28.0), and visual analog scale for pain (from 2.0 to 3.7). All studies reported postoperative complications, giving an overall reported complication rate of 4.7%, but no redislocations occurred during the follow-up period. Conclusion: For recurrent patellar dislocation in the presence of increased femoral anteversion, combination treatment with derotational femoral osteotomy led to favorable clinical outcomes with a low redislocation rate. However, there was no consensus among researchers on the indications for derotational femoral osteotomy in the treatment of recurrent patellar dislocation.

Changes in patellar morphology following surgical correction of recurrent patellar dislocation in children

Background The aim of this study was to evaluate patellar morphological changes following surgical correction of recurrent patellar dislocation in children. Methods A total of 35 immature children aged 5 to 10 years who suffered from bilateral recurrent patellar dislocation associated with abnormal patella morphology were enrolled in this study. The knees with the most frequent dislocations (treated with medial patellar retinacular plasty) were selected as the study group (SG), and those undergoing conservative treatment for the contralateral knee were selected as the control group (CG). Computed tomography (CT) scans were performed on all children preoperatively and at the last follow-up to evaluate morphological characteristics of the patella. Results All the radiological parameters of the patella showed no significant difference between the two groups preoperatively. At the last follow-up for CT scans, no significant differences were found for the relative patellar width (SG, 54.61%; CG, 52.87%; P = 0.086) and the relative patellar thickness (SG, 26.07%; CG, 25.02%; P = 0.243). The radiological parameters including Wiberg angle (SG, 136.25°; CG, 122.65°; P < 0.001), modified Wiberg index (SG, 1.23; CG, 2.65; P < 0.001), and lateral patellar facet angle (SG, 23.35°; CG, 15.26°; P < 0.001) showed statistical differences between the two groups. Conclusions The patellar morphology can be improved by early surgical correction in children with recurrent patellar dislocation. Therefore, early intervention is of great importance for children diagnosed with recurrent patellar dislocation.

Assessment of knee flexor muscles strength in patients with patellar instability and its clinical implications for the non-surgical treatment of patients after first patellar dislocation - pilot study

Background Biomechanical studies indicate that during outward rotation of the tibia and the valgus knee joint position, the patella is shifted in the lateral direction. After first-time patellar dislocation, the dynamic position of the femur in relation to the tibia plays an important role in joint stability, because the medial stabilizer of the patella (mostly the MPFL) is damaged or inefficient. The most important factor in controlling the rotational movement of the tibia in relation to the thigh are the hamstring muscles. The aim of the study therefore is to determine whether patients with patellar instability have a significant weakness in the knee flexor muscles, which can predispose to recurrent dislocations. This is an important consideration when planning the rehabilitation of patients with first-time patellar dislocation. Methods The study enrolled 33 patients with confirmed recurrent patellar dislocation, including six patients with bilateral involvement. In the study group, the hamstring muscles (both sides) were evaluated at velocities of 60 and 180 deg/s for the following parameters: peak torque, torque at 30 degrees of knee flexion, angle of peak torque and peak torque hamstring to quadriceps ratio (H/Q ratio). Results In the recurrent patellar dislocation group, a statistically significant weakness in knee flexors was observed for both angular velocities compared to age and gender normative data. No such relationship was observed in the control group of heathy subjects. In patients with one-sided dislocation, no differences were found in knee flexors peak torque, torque at 30 degrees of knee flexion, angle of peak torque or H/Q ratio between the healthy and affected limbs for either angular velocity. Conclusions In patients with recurrent patellar dislocation, knee flexors strength is decreased significantly in both the unaffected and affected limbs. This may indicate a constitutional weakening of these muscles which can predispose to recurrent dislocations. Trial registration The study was retrospectively registered on ClinicalTrials.gov (NCT04838158), date of registration; 22/03/2021.