Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature.

PURPOSE: The aim of our study was to perform a systematic review and best knowledge synthesis of the present literature concerning the familial association and epidemiological factors as risk factors for developing first-time and recurrent patella dislocation. METHODS: The study was conducted according to the PRISMA guidelines and registered in PROSPERO. EMBASE and PubMed were systematically searched on the 5th of May 2022. Studies investigating participants with genetic and epidemiological risk factors for the first time as well as recurrent patella dislocation were included. The records were screened, and data were extracted independently by two researchers supervised by a third independent assessor. RESULTS: A total of 6,649 records were screened, and 67 studies were included. Familial association was described as a risk factor for patella dislocation in 17 studies. One study found that participants with a family history of patella dislocation had a 3.7 higher risk for patella dislocation in the contralateral asymptomatic knee, and another study found a family history of PD in 9% of 74 participants. Eleven studies found an accumulation of patella dislocation across generations in specific families. Additionally, a range of genetic syndromes was associated with patella dislocation. Young age is a well-investigated risk factor for patella dislocation, but the results are inconsistent. Only five and eight studies investigated skeletal immaturity and gender as risk factors for patella dislocation, respectively. CONCLUSION: There may be a familial association with patella dislocation, but further investigation is necessary to determine the strength and etiology of the association. There is weak evidence that epidemiological risk factors, such as age, skeletal immaturity, gender, and BMI are risk factors for patella dislocation. LEVEL OF EVIDENCE: IV.

Familial patellar dislocation associated with t(15;20) (q24;q13.1).

Patellar instability is a common debilitating injury affecting young active individuals. It accounts for approximately 3% of all knee injuries. We report a family, of which five members across three generations, who suffered from autosomal dominant familial recurrent patellar dislocation as well as short stature. All of them have recurrent patellar dislocations before the age of 15. The affected patients in all three generations have been genetically screened. Genotypical evaluation revealed a balanced translocation of chromosomes 15 and 20.

Heritability of patellar luxation in the Chihuahua and Bichon Frise breeds of dogs and effectiveness of a Swedish screening programme.

Patellar luxation is one of the more common orthopaedic diseases of dogs and is relatively frequent in some toy breeds, including the Chihuahua and Bichon Frise. Using data provided by the Swedish Kennel Club, genetic parameters, including heritability, were estimated for patellar luxation in the Chihuahua from 1999 to 2014 and in the Bichon Frise from 1997 to 2014. The effects of the current screening programmes for patellar luxation in these breeds were evaluated. Patellar luxation was defined as a binary trait, treating dogs as affected or unaffected. The edited data included 7024 records for the Chihuahua and 1071 records for the Bichon Frise. Patellar luxation was analysed using mixed linear and threshold animal models, including fixed effects of sex, birth month, birth year, age at veterinary examination, random effects of the examining veterinary surgeon, genetic effect of the individual and residual. The prevalence of patellar luxation was 23% in the Chihuahua and 12% in the Bichon Frise. Using threshold analysis, estimated heritabilities were 0.25 for the Chihuahua and 0.21 for the Bichon Frise on the observable scale, and 0.46 for the Chihuahua on the underlying scale. It was concluded that there is genetic variation in patellar luxation and that there has been a slight genetic improvement over the study period in the Chihuahua. Further genetic progress would be facilitated by selection using estimated breeding values based on veterinary screening records.

Breeding implications resulting from classification of patellae luxation in dogs.

Patellar luxation (PL) is one of the major hereditary orthopaedic abnormalities observed in a variety of dog breeds. When the patellae move sideways out of the trochlear groove, this is called PL. The PL score varies between dogs from normal to very severe. Reducing the prevalence of PL by breeding could prevent surgery, thereby improve welfare. Orthopaedic specialists differentiate between normal and loose patellae, where the patellae can be moved to the edge of the trochlear groove, considering scoring loose patellae as normal in the future. Loose patellae are considered acceptable for breeding so far by the breeding organization. The aim of this study was to analyse the genetic background of PL to decide on the importance of loose patellae when breeding for healthy dogs. Data are available from two dog breeds, that is Flat-coated Retrievers (n = 3808) and Kooiker dogs (n = 794), with a total of 4602 dogs. Results show that loose patellae indicate that dogs are genetically more susceptible to develop PL because family members of the dogs with loose patellae showed more severe PL. In addition, the estimated breeding values for dogs with loose patellae indicate that breeding values of dogs with loose patellae were worse than breeding values obtained for dogs with a normal score. Given these results, it is advised to orthopaedic specialists to continue to score loose patellae as a separate class and to dog breeders to minimize the use of dogs in breeding with a genetically higher susceptibility for PL.

[Patellofemoral instability in trisomy 21: MPFL-Reconstruction as a single procedure]. / Patellainstabilität bei Patienten mit Trisomie 21: Alleinige MPFL-Rekonstruktion als neue Indikation.

BACKGROUND: Patellar instability is a common orthopaedic condition which is often seen in younger individuals. Biomechanical studies have shown that the medial patellofemoral ligament (MPFL) is the most important soft tissue that restrains lateral subluxation of the patella in the beginning of flexion of the knee joint. METHODS: MPFL reconstruction is an effective procedure to treat recurrent patellar dislocation. Double-bundle and single-bundle procedures have been described. If double-bundle reconstruction is not possible, there are good postoperative outcomes with single-bundle procedure as well. DISCUSSION: This is the first report of MPFL reconstruction as a single procedure to treat patellar instability in patients with down syndrome.

Familial association of femoral trochlear dysplasia with recurrent bilateral patellar dislocation.

Femoral trochlear dysplasia is an anatomic deformity that predisposes patients to patellar instability, including patellar subluxation and dislocation, and can lead to severe patellofemoral joint degeneration if left untreated. Femoral trochlear dysplasia leading to recurrent bilateral patellar dislocation has rarely been reported as having a familial association. Orthopedic surgeons who encounter patients presenting with chronic patellar instability with no underlying disease or syndrome should be aware of the presence of femoral trochlear dysplasia leading to recurrent bilateral patellar dislocation. Although femoral trochlear dysplasia remains uncommon, the presence of bilateral recurrent patellar dislocation in multiple members of the same family is highly suggestive of genetic inheritance.This article describes 3 patients from 1 family who presented with femoral trochlear dysplasia leading to recurrent bilateral patellar dislocation. To our knowledge, this is the second article to describe a familial form of femoral trochlear dysplasia associated with recurrent bilateral patellar dislocation and is the first article in English. A lower threshold for screening and early intervention for symptomatic family members may be indicated to prevent the long-term effects of chronic patellar subluxation, dislocation, and patellofemoral arthritis.

A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.

Congenital myopathies are early onset hereditary muscle disorders. A sub-group of these is associated with malignant hyperthermia susceptibility. Mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with various congenital myopathy phenotypes and may also cause malignant hyperthermia susceptibility. We describe nine affected members of an extended family presenting with a myopathy typically manifesting as upper eye lid ptosis, quadriceps atrophy and patellar dislocation. Three affected members underwent extensive genetic testing and have a RYR1 exon 46 c.7354C>T gene mutation; two of whom had muscle biopsies--both demonstrated central core myopathy. The only affected family member who underwent testing for malignant hyperthermia susceptibility was shown to be positive. The clinical phenotypes seen among affected family members varies widely in severity, and have features in common with those congenital myopathies associated with malignant hyperthermia susceptibility, raising the possibility that these conditions represent a spectrum of disease.