2009 Annual Meeting Podium Presentations

Shoulder 3: Rotator Cuff

Evidence for an Inherited Predisposition Contributing to the Risk For Rotator Disease

Podium No: 379

Thursday, February 26, 2009
04:24 PM - 04:30 PM

Location: Venetian Hotel
Venetian Ballroom I

Robert Zaray Tashjian, MD Salt Lake City UT
Lisa Cannon-Albright, PhD

Moderator(s):
Jeffrey S Abrams, MD Princeton NJ
Norman Douglas Boardman, III MD Richmond VA

Increased relative risks for rotator cuff diease in third degree relatives of patients identified wiith a rotator cuff tear compare to controls strongly supports a heritable predisposition.

A genetic predisposition has been suggested to contribute to the risk for development of rotator cuff disease based on observed family clusters of close relatives. We used a population-based resource combining genealogy data for Utah with clinical diagnosis data from a large Utah hospital to test the hypothesis of excess familial clustering for rotator cuff disease.

The Utah Population Database (UPDB) contains combined health and genealogic data on over 2 million Utah residents. CPT-4 codes (29827, 23412, 23410, 23420) and ICD-9 codes (726.1, 727.61, 840.4) recorded in patient records were used to identify patients with a rotator cuff tear. We tested hypotheses of excess familial clustering using two well established methods ( the Genealogical Index of Familiality (GIF) and Relative Risks (RR) in relatives) in the overall study population (n=3,091) and a subgroup of the study population under the age of 40 (n=652).

Increased RR of rotator cuff disease in relatives of all patients in the study population were significantly elevated for first- (p<0.0001) and second- (p=0.0177) degree relatives. The GIF test in patients < 40 years old showed statistically significant excess relatedness for individuals with rotator cuff disease in close (p=0.001) and distant (p=0.004) relationships (3rd cousins). Increased RR of rotator cuff disease in relatives of patients < 40 were significantly elevated out to third degree relatives (p=0.479).

We have analyzed a set of patients with diagnosed rotator cuff disease and a known genealogy to describe the familial clustering of affected individuals. The observations of significant excess relatedness of cases and the significantly elevated risks to both close and distant relatives of cases strongly support a heritable predisposition to rotator cuff disease.

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