Background Whether knowledge of genetic risk for coronary heart disease (CHD) affects health-related outcomes is unknown. We investigated whether incorporating a genetic risk score (GRS) in CHD risk estimates lowers low-density lipoprotein cholesterol (LDL-C) levels. Methods and Results Participants (n=203, 45–65 years old, at intermediate risk for CHD, and not on statins) were randomized to receive their 10-year probability of CHD based either on a conventional risk score (CRS) or CRS + GRS (+GRS). Participants in the +GRS group were stratified as having high (+H-GRS) or average/low (+L-GRS) GRS. Risk was disclosed by a genetic counselor followed by shared decision-making regarding statin therapy with a physician. We compared the primary endpoint of LDL-C levels at 6 months and assessed whether any differences were due to changes in dietary fat intake, physical activity levels or statin use. Participants (mean age 59.4±5 years, 48% men, mean 10-year CHD risk 8.5±4.1%) were allocated to receive either CRS (n=100) or +GRS (n=103). At the end of the study period, the +GRS group had a lower LDL-C than the CRS group (96.5±32.7 vs. 105.9±33.3 mg/dL; P=0.04). +H-GRS participants had lower LDL-C levels (92.3±32.9 mg/dL) than CRS participants (P=0.02) but not +L-GRS participants (100.9±32.2 mg/dL; P=0.18). Statins were initiated more often in the +GRS group than in the CRS group (39% vs. 22%, P<0.01). No significant differences in dietary fat intake and physical activity levels were noted. Conclusions Disclosure of CHD risk estimates that incorporated genetic risk information led to lower LDL-C levels than disclosure of CHD risk based on conventional risk factors alone. Clinical Trial Registration Information ClinicalTrials.gov. Identifier: NCT01936675.
Whether disclosure of genetic risk for coronary heart disease (CHD) influences shared decision-making (SDM) regarding use of statins to reduce CHD risk is unknown. We randomized 207 patients, age 45– 65 years, at intermediate CHD risk, and not on statins, to receive the 10-year risk of CHD based on conventional risk factors alone (n=103) or in combination with a genetic risk score (n=104). A genetic counselor disclosed this information followed by a physician visit for SDM regarding statin therapy. A novel decision aid was used in both encounters to disclose the CHD risk estimates and facilitate SDM regarding statin use. Patients reported their decision quality and physician visit satisfaction using validated surveys. There were no statistically significant differences between the two groups in the SDM score, satisfaction with the clinical encounter, perception of the quality of the discussion or of participation in decision-making and physician visit satisfaction scores. Quantitative analyses of a random subset of 80 video-recorded encounters using the OPTION5 scale also showed no significant difference in SDM between the two groups. Disclosure of CHD genetic risk using an electronic health record-linked decision aid did not adversely affect SDM or patients' satisfaction with the clinical encounter. Trial registration number NCT01936675; Results.
Infective endocarditis (IE) remains a prevalent disease with a high rate of morbidity and mortality. Recent changes have been noted in the profile of causative microorganisms. In this report, we describe a case of Gemella-related endocarditis and review the related literature. Our patient was an 81-year-old man who presented with dyspnea and fatigue. His initial examination revealed a new systolic murmur. Echocardiogram revealed moderate mitral regurgitation with 1-cm mass on the anterior mitral leaflet, and blood cultures grew Gemella haemolysans. Penicillin and gentamicin were initiated, and workup for possible source was positive for a colonic polyp with high-grade dysplasia. The patient subsequently developed cardiogenic shock and severe pulmonary edema. Comfort care measures were initiated, and he passed away thereafter. We reviewed PubMed for cases of Gemella-related endocarditis. We found 65 documented cases and added our patient’s case to the analysis. Seventy-two percent of the cases occurred in men. The mean age was 51 years and 42% of the patients were older than 60 years. Fever was the most common presenting symptom and most of the cases presented subacutely. The mitral valve was the most affected site and 50% of the patients required surgical intervention. G. morbillorum was the most common subtype and a total of four cases were found to be associated with colorectal neoplasm. As a conclusion, Gemella species rarely cause IE. The absence of a clear source of bacteremia warrants further evaluation for a gastrointestinal source. The infection can be destructive and must be promptly treated to avoid complications.
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