18F-FDG/13N-ammonia cardiac PET findings in ATTR cardiac amyloidosis.

18F-flurodeoxyglycose (FDG)/13N-ammonia positron emission tomography/computed tomography (PET/CT) is frequently utilized to evaluate cardiac sarcoidosis (CS) but findings can reflect other forms of myocardial inflammation or altered myocardial metabolic activity. Herein, we present five cases where cardiac PET findings suggested CS, but right ventricular endomyocardial biopsy samples revealed ATTR-type cardiac amyloidosis.

Rituximab for the Treatment of Refractory Cardiac Sarcoidosis: A Single-Center Experience.

BACKGROUND: We sought to examine the effect of anti-B-cell therapy (rituximab) on cardiac inflammation and function in corticosteroid-refractory cardiac sarcoidosis. Cardiac sarcoidosis (CS) is a rare cause of cardiomyopathy characterized by granulomatous inflammation involving the myocardium. Although typically responsive to corticosteroid treatment, there is a critical need for identifying effective steroid-sparing agents for disease control. Despite increasing evidence on the role of B cells in the pathogenesis of sarcoidosis, there is limited data on the efficacy of anti-B-cell therapy, specifically rituximab, for controlling CS. METHODS AND RESULTS: We reviewed the clinical experience at a tertiary care referral center of all patients with CS who received rituximab after failing to improve with initial immunosuppression therapy, which included corticosteroids. Fluorodeoxyglucose positron emission tomography (FDG PET/CT) images before and after rituximab treatment were evaluated. All images were interpreted by 2 experienced nuclear medicine trained physicians. We identified 7 patients (5 men, 2 women; mean age at diagnosis, 49.0 ± 7.9 years) with active CS who were treated with rituximab. The median length of follow-up was 5.1 years. All individuals, but 1, had received prior steroid-sparing agents in addition to corticosteroids. Rituximab was administered either as 1000 mg intravenously ×1 or ×2 doses, separated by 2 weeks. Repeat dosing, if appropriate, was considered after 6 months. All tolerated the infusions well. Inflammation as assessed by maximum standardized uptake value on cardiac FDG PET/CT uptake significantly decreased in 6 of 7 patients (median 6.0-4.5, Wilcoxon signed rank z -1.8593, W 3), whereas the left ventricular ejection fraction improved or stabilized in 4 patients but decreased in 3. The mean left ventricular ejection fraction was 40.1% and 43.3% before and after treatment, respectively (P = .28). Three patients reported improved physical capacity, and 5 patients showed improved arrhythmic burden on Holter monitoring or implantable cardioverter-defibrillator interrogation. One patient subsequently developed a fungal catheter-associated infection and sepsis requiring discontinuation. CONCLUSIONS: Rituximab was well-tolerated and seemed to decrease inflammation, as assessed by cardiac FDG PET/CT in all but 1 patient with active CS. These data suggest that rituximab may be a promising therapeutic option for CS, which deserves merits further study.

Mitral Valve Cleft-like Indentations in Hypertrophic Obstructive Cardiomyopathy: Insights From Intraoperative Three-Dimensional Transesophageal Echocardiography.

OBJECTIVES: Cleft-like indentations (CLIs) of the mitral valve (MV) are best assessed with three-dimensional (3D) transesophageal echocardiography (TEE). The present study examined the prevalence, characteristics, and surgical effect of MV CLIs in patients with hypertrophic cardiomyopathy (HCM). DESIGN: Prospective, observational, case-control study. SETTING: Tertiary medical center. PARTICIPANTS: The study comprised 90 patients with HCM undergoing myectomy and 59 patients undergoing cardiac surgery for non-MV related indications. MEASUREMENTS AND MAIN RESULTS: Intraoperative 3D TEE was used to evaluate the presence and characteristics of MV CLIs compared, with a random control group of 59 patients undergoing cardiac surgery for non-MV related indications. Ninety patients with HCM (mean age 54.8 ± 13.3 y, 67.8% male) were compared with 59 control patients (mean age 67 ± 12.7 y, 79.7% male). Three-dimensional TEE images were interpreted by consensus of two experienced echocardiographers. At least one MV CLI was present in 84 patients with HCM (93.3%), compared with 23 control patients (39%; p < 0.01). Compared with control patients, patients with HCM were more likely to have deep MV CLIs (85.6% v 25.4%; p < 0.01) and ≥2 CLIs (52.2% v 26.1%; p = 0.02). Six HCM patients (7%) appeared to have true congenital posterior leaflet clefts versus 0% in control patients (p = 0.08). Preoperative mitral regurgitation severity and jet direction were not associated with the presence of deep or multiple MV CLIs (all p > 0.2). None of the MV CLIs in the HCM group required MV surgical intervention or second pump runs for MV regurgitation correction after myectomy. CONCLUSION: Deep and multiple MV CLIs are common in patients with HCM undergoing septal myectomy, including possible true posterior clefts, but they are not associated with the premyectomy severity of mitral regurgitation or jet direction, and do not result in surgical MV intervention.

Atrial fibrillation is associated with large beat-to-beat variability in mitral and tricuspid annulus dimensions.

AIMS: Beat-to-beat variability in cycle length is well-known in atrial fibrillation (Afib); whether this also translates to variability in annulus size remains unknown. Defining annulus maximal size in Afib is critical for accurate selection of percutaneous devices given the frequent association with mitral and tricuspid valve diseases. METHODS AND RESULTS: Images were obtained from 170 patients undergoing 3D echocardiography [100 (50 sinus rhythm (SR) and 50 Afib) for mitral annulus (MA) and 70 (35 SR and 35 Afib) for tricuspid annulus (TA)]. Images were analysed for differences in annular dynamics with a commercially available software. Number of cardiac cycles analysed was 567 in mitral valve and 346 in tricuspid valve. Median absolute difference in maximal MA area over four to six cycles was 1.8 cm2 (range 0.5-5.2 cm2) in Afib vs. 0.8 cm2 (range 0.1-2.9 cm2) in SR, P < 0.001. Maximal MA area was observed within 30-70% of the R-R interval in 81% of cardiac cycles in SR and in 73% of cycles in Afib. Median absolute difference in maximal TA area over four to six cycles was 1.4 cm2 (range 0.5-3.6 cm2) in Afib vs. 0.7 cm2 (range 0.3-1.7 cm2) in SR, P < 0.001. Maximal TA area was observed within 60-100% of the R-R interval in 81% of cardiac cycles in SR, but only in 49% of cycles in Afib. CONCLUSION: MA and TA reach maximal size within a broad time interval centred around end-systole and end-diastole, respectively, with significant beat-to-beat variability. Afib leads to a larger beat-to-beat variability in both timing of occurrence and values of annulus size than in SR.

Suppressing physiologic 18-fluorodeoxyglucose uptake in patients undergoing positron emission tomography for cardiac sarcoidosis: The effect of a structured patient preparation protocol.

OBJECTIVE: Myocardial positron emission tomography (PET) to detect cardiac sarcoidosis requires adequate patient preparation; however, in many cases physiologic myocardial 18F-fluorodeoxyglucose (18F-FDG) uptake may not be adequately suppressed. We sought to evaluate the efficacy of a structured patient preparation protocol as recommended by the joint SNMMI/ASNC expert consensus document on the role of 18F-FDG PET/CT in cardiac sarcoid detection and therapy monitoring. The SNMMI/ASNC preparation protocol recommends at least two high-fat (> 35 g), low-carbohydrate (< 3 g) (HFLC) meals the day before testing followed by fasting for at least 4-12 hours. METHODS: All unique PET scans performed for cardiac sarcoidosis before (group 1) and after (group 2) application of the new preparation protocol were included in the study. In group 1, patients were given a preparation protocol of HFLC meals with suggested meals examples, while patients in group 2 received detailed diet instructions, together with accepted and non-accepted meal examples along. In group 2, reinforcement of instructions by nursing staff and review of dietary log were performed prior to testing. All PET images were evaluated for suppression of physiologic myocardial 18F-FDG uptake. RESULTS: Group 1 included 124 unique patients, and group 2 included 232 unique patients. There were no significant differences in baseline patient characteristics between the two groups. Suppression of physiologic myocardial 18F-FDG uptake was achieved in 91% of patients in group 2, compared to 78% of patients in group 1 (P < .001). A "diffuse" myocardial uptake pattern, indicating inadequate 18F-FDG suppression, was seen in 2% of studies in group 2 vs 12% in group 1 (P < .001). CONCLUSION: In this single-center study, application of a structured preparation protocol was highly successful in achieving suppression of physiologic myocardial 18F-FDG uptake in patients undergoing myocardial PET for cardiac sarcoidosis.

Artificial Intelligence in Cardiology: Present and Future.

Artificial intelligence (AI) is a nontechnical, popular term that refers to machine learning of various types but most often to deep neural networks. Cardiology is at the forefront of AI in medicine. For this review, we searched PubMed and MEDLINE databases with no date restriction using search terms related to AI and cardiology. Articles were selected for inclusion on the basis of relevance. We highlight the major achievements in recent years in nearly all areas of cardiology and underscore the mounting evidence suggesting how AI will take center stage in the field. Artificial intelligence requires a close collaboration among computer scientists, clinical investigators, clinicians, and other users in order to identify the most relevant problems to be solved. Best practices in the generation and implementation of AI include the selection of ideal data sources, taking into account common challenges during the interpretation, validation, and generalizability of findings, and addressing safety and ethical concerns before final implementation. The future of AI in cardiology and in medicine in general is bright as the collaboration between investigators and clinicians continues to excel.

Electronic health record access by patients as an indicator of information seeking and sharing for cardiovascular health promotion in social networks: Secondary analysis of a randomized clinical trial.

We investigated electronic health record (EHR) access as an indicator of cardiovascular health promotion by patients in their social networks, by identifying individuals who viewed their coronary heart disease (CHD) risk information in the EHR and shared this information in their social networks among various spheres of influence. In a secondary analysis of the Myocardial Infarction Genes trial, Olmsted County MN residents (2013-2015; n = 203; whites, ages 45-65 years) at intermediate CHD risk were randomized to receive their conventional risk score (CRS; based on traditional risk factors) alone or also their genetic risk score (GRS; based on 28 genomic variants). We assessed self-reported and objectively quantified EHR access via a patient portal at three and six months after risk disclosure, and determined whether this differed by GRS disclosure. Data were analyzed using logistic regression and adjusted for sociodemographic characteristics, family history, and baseline CRS/GRS. Self-reported EHR access to view CHD risk information was associated with a high frequency of objectively quantified EHR access (71(10) versus 37(5) logins; P = 0.0025) and a high likelihood of encouraging others to be screened for their CHD risk (OR 2.936, CI 1.443-5.973, P = 0.0030), compared to the absence of self-reported EHR access to view CHD risk information. We thereby used EHR access trends to identify individuals who may function as disseminators of CHD risk information in social networks, compared to individuals on the periphery of their social networks who did not exhibit this behavior. Partnering with such individuals could amplify CHD health promotion. Clinical Trial Registration: Myocardial Infarction Genes (MI-GENES) Study, NCT01936675, https://clinicaltrials.gov/ct2/show/NCT01936675.

Solving a Mystery . . . 8 Years Later.

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis with multisystem involvement and insidious symptoms. In this article, we describe an interesting case of Erdheim-Chester disease that was eventually diagnosed 8 years after symptoms initially started.

Effect of Disclosing Genetic Risk for Coronary Heart Disease on Information Seeking and Sharing: The MI-GENES Study (Myocardial Infarction Genes).

BACKGROUND: Whether disclosing genetic risk for coronary heart disease (CHD) to individuals influences information seeking and information sharing is not known. We hypothesized that disclosing genetic risk for CHD to individuals influences information seeking and sharing. METHODS AND RESULTS: The MI-GENES study (Myocardial Infarction Genes) randomized participants (n=203) aged 45 to 65 years who were at intermediate CHD risk based on conventional risk factors and not on statins to receive their conventional risk score alone or also a genetic risk score based on 28 variants. CHD risk was disclosed by a genetic counselor and then discussed with a physician. Surveys assessing information seeking were completed before and after risk disclosure. Information sharing was assessed post-disclosure. Six-month post-disclosure, genetic risk score participants were more likely than conventional risk score participants to visit a website to learn about CHD (odds ratio [OR], 4.88 [confidence interval (CI), 1.55-19.13]; P=0.01), use the internet for information about how genetic factors affect CHD risk (OR, 2.11 [CI, 1.03-4.47]; P=0.04), access their CHD risk via a patient portal (OR, 2.99 [CI, 1.35-7.04]; P=0.01), and discuss their CHD risk with others (OR, 3.13 [CI, 1.41-7.47]; P=0.01), particularly their siblings (OR, 1.92 [CI, 1.06-3.51]; P=0.03), extended family (OR, 3.8 [CI, 1.37-12.38]; P=0.01), coworkers (OR, 2.42 [CI, 1.09-5.76]; P=0.03), and primary care provider (PCP; OR, 2.00 [CI, 1.08-3.75]; P=0.03). CONCLUSIONS: Disclosure of a genetic risk score for CHD increased information seeking and sharing. CLINICAL TRIAL REGISTRATION: URL: https://clinicaltrials.gov/. Unique identifier: NCT01936675.

Temporal Trends of Single-Photon Emission Computed Tomography Myocardial Perfusion Imaging in Patients With Coronary Artery Disease: A 22-Year Experience From a Tertiary Academic Medical Center.

BACKGROUND: There has been a gradual decline in the prevalence of abnormal stress single-photon emission computed tomography (SPECT) myocardial perfusion imaging studies among patients without history of coronary artery disease (CAD). The trends of SPECT studies among patients with known CAD have not been evaluated previously. METHODS AND RESULTS: We assessed the Mayo Clinic nuclear cardiology database for all stress SPECT tests performed between January 1991 and December 2012 in patients with history of CAD defined as having previous myocardial infarction, percutaneous coronary intervention, and coronary artery bypass grafting. The study cohort was divided into 5 time periods: 1991 to 1995, 1996 to 2000, 2001 to 2005, 2006 to 2010, and 2011 to 2012. There were 19 373 patients with a history of CAD who underwent SPECT between 1991 and 2012 (mean age, 66.2±10.9 years; 75.4% men). Annual utilization of SPECT in these patients increased from an average of 495 tests per year in 1991 to 1995 to 1425 in 2003 and then decreased to 552 tests in 2012 without evidence for substitution with other stress modalities. Asymptomatic patients initially increased until 2006 and then decreased. Patients with typical angina decreased, whereas patients with dyspnea and atypical angina increased. High-risk SPECT tests significantly decreased, and the percentage of low-risk SPECT tests increased despite decreased SPECT utilization between 2003 and 2012. Almost 80% of all tests performed in 2012 had a low-risk summed stress score compared with 29% in 1991 (P<0.001). CONCLUSIONS: In Mayo Clinic, Rochester, annual SPECT utilization in patients with previous CAD increased between 1992 and 2003, but then decreased after 2003. High-risk SPECT tests declined, whereas low-risk tests increased markedly. Our results suggest that among patients with a history of CAD, SPECT was being increasingly utilized in patients with milder CAD. This trend parallels reduced utilization of other stress modalities, coronary angiography, reduced smoking, and greater utilization of optimal medical therapy for prevention and treatment of CAD.

Motivation, Perception, and Treatment Beliefs in the Myocardial Infarction Genes (MI-GENES) Randomized Clinical Trial.

Little is known about individuals' motivation, perception, and treatment beliefs towards the use of genetic information in risk estimates for coronary heart disease (CHD). In this study, participants at intermediate 10-year risk of CHD were randomized to receive either their estimated conventional risk score (CRS) alone, or a CRS and a genetic risk score (GRS), by a genetic counselor. Surveys on motivation to participate in and perception of genetic testing for CHD were administered at 3 months and treatment beliefs at 6 months following risk disclosure. Survey responses used Likert scales. Linear and logistic regression were used for analysis. Overall, motivation to participate in genomic clinical trials was favorable and did not differ between the CRS and GRS groups (16.95 ± 0.82 vs. 17.58 ± 0.83, p = 0.091), but participants who initially received their GRS indicated a greater desire to find ways to improve health as a reason for participation (OR: 0.53 (95%CI: 0.29, 0.94), p = 0.028). Perception of genetic testing was also favorable in both groups (15.29 ± 0.39 vs. 15.12 ± 0.40, p = 0.835). Participants who initially received their GRS were more inclined to recommend genetic testing to family and friends (9.95 ± 1.88 vs. 10.52 ± 2.17, p = 0.023). In the MI-GENES study, motivation to participate in and perception of genetic testing among study participants were overall favorable. Genetic risk disclosure was associated with increased motivation to recommend genetic testing to family and friends.

Disclosing Genetic Risk for Coronary Heart Disease: Attitudes Toward Personal Information in Health Records.

INTRODUCTION: Incorporating genetic risk information in electronic health records (EHRs) will facilitate implementation of genomic medicine in clinical practice. However, little is known about patients' attitudes toward incorporation of genetic risk information as a component of personal health information in EHRs. This study investigated whether disclosure of a genetic risk score (GRS) for coronary heart disease influences attitudes toward incorporation of personal health information including genetic risk in EHRs. METHODS: Participants aged 45-65 years with intermediate 10-year coronary heart disease risk were randomized to receive a conventional risk score (CRS) alone or with a GRS from a genetic counselor, followed by shared decision making with a physician using the same standard presentation and information templates for all study participants. The CRS and GRS were then incorporated into the EHR and made accessible to both patients and physicians. Baseline and post-disclosure surveys were completed to assess whether attitudes differed by GRS disclosure. Data were collected from 2013 to 2015 and analyzed in 2015-2016. RESULTS: GRS and CRS participants reported similar positive attitudes toward incorporation of genetic risk information in the EHR. Compared with CRS participants, participants with high GRS were more concerned about the confidentiality of genetic risk information (OR=3.67, 95% CI=1.29, 12.32, p=0.01). Post-disclosure, frequency of patient portal access was associated with positive attitudes. CONCLUSIONS: Participants in this study of coronary heart disease risk disclosure overall had positive attitudes toward incorporation of genetic risk information in EHRs, although those who received genetic risk information had concerns about confidentiality.

Shared decision-making following disclosure of coronary heart disease genetic risk: results from a randomized clinical trial.

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.