The role of familial predisposition in imaging-confirmed atraumatic rotator cuff tears

The etiology of atraumatic rotator cuff tears is not completely understood. Limited data suggest the role of genetic and familial predisposition in the etiology of rotator cuff tears. The purpose of this study was to assess whether there is an increased likelihood of rotator cuff tears in family members of patients with rotator cuff tears vs. those without tears. This would provide evidence for whether there is an association between familial predisposition and rotator cuff tearing.

Patients presenting to a shoulder clinic were recruited in this study. They provided information on personal medical history, shoulder symptoms, and family history of rotator cuff tears. The diagnosis of rotator cuff tears was based on imaging (magnetic resonance imaging or computed tomography arthrogram) confirmation of a structural defect in the rotator cuff. The association between family history of rotator cuff problems and the likelihood of an imaging-confirmed rotator cuff tear diagnosis was evaluated using multivariate logistic regression, adjusting for age, sex, race/ethnicity, cigarette smoking, hypertension, diabetes, and depression.

In our cohort of 2335 patients, 52.6% (n = 1229) of patients had a rotator cuff tear. Among patients with tears, 17.9% (n = 220) of patients reported a family history of rotator cuff issues vs. 11.1% (n = 123) in patients without tears. A family history of rotator cuff problems was significantly associated with the diagnosis of an imaging-confirmed rotator cuff tear (odds ratio [OR] 2.24, 95% confidence interval [CI] 1.71, 2.95). Other confounding variables such as increasing age (OR 1.06, 95% CI 1.05, 1.07) and Hispanic race/ethnicity as compared to non-Hispanic white race/ethnicity (OR 1.48, 95% CI 1.07, 2.05) were significantly associated with rotator cuff tears. Sex, smoking, hypertension, diabetes, and depression were not significantly associated with rotator cuff tearing.

Our study shows that individuals with rotator cuff tears were more than 2 times as likely to have a family member with a tear as compared to patients without tears. Increasing age and patients who identified as being of Hispanic ancestry were also significantly associated with higher odds of rotator cuff tears.