Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants.

Inclusion Body Myopathy, Paget's Disease of Bone, with Frontotemporal Dementia is a progressive autosomal dominant disease that affects the ubiquitin-proteasome complex, that is caused by variants in the Valosin Containing Protein (VCP) gene. We report the first case of concurrent pathogenic variants in both MYBPC3 and VCP that led to earlier onset of congestive heart failure with features of dilated cardiomyopathy. Cardiomyopathy has previously been associated with VCP inclusion body myopathy mostly at an advanced stage of the disease. Due to acute onset of cardiomyopathy in a previous asymptomatic individual, a cardiomyopathy gene panel was obtained which revealed an additional c.177_187del variant of the MYBPC3 gene. We report a first case of concurrent pathogenic variants in both c.177_187del gene of MYBPC3 and p.R155C VCP that led to earlier onset and a more severe form of the cardiomyopathy.

Frequency of Cholesterol Crystals in Culprit Coronary Artery Aspirate During Acute Myocardial Infarction and Their Relation to Inflammation and Myocardial Injury.

Cholesterol crystals (CCs) have been associated with plaque rupture through mechanical injury and inflammation. This study evaluated the presence of CCs during acute myocardial infarction (AMI) and associated myocardial injury, inflammation, and arterial blood flow before and after percutaneous coronary intervention. Patients presenting with AMI (n = 286) had aspiration of culprit coronary artery obstruction. Aspirates were evaluated for crystal content, size, composition, and morphology by scanning electron microscopy, crystallography, and infrared spectroscopy. These were correlated with inflammatory biomarkers, cardiac enzymes, % coronary stenosis, and Thrombolysis in Myocardial Infarction (TIMI) blush and flow grades. Crystals were detected in 254 patients (89%) and confirmed to be cholesterol by spectroscopy. Of 286 patients 240 (84%) had CCs compacted into clusters that were large enough to be measured and analyzed. Moderate to extensive CC content was present in 172 cases (60%). Totally occluded arteries had significantly larger CC clusters than partially occluded arteries (p <0.05). Patients with CC cluster area >12,000 µm2 had significantly elevated interleukin-1 beta (IL-1ß) levels (p <0.01), were less likely to have TIMI blush grade of 3 (p <0.01), and more likely to have TIMI flow grade of 1 (p <0.01). Patients with recurrent AMI had smaller CC cluster area (p <0.04), lower troponin (p <0.02), and IL-1ß levels (p <0.04). Women had smaller CC clusters (p <0.04). Macrophages in the aspirates were found to be attached to CCs. Coronary artery aspirates had extensive deposits of CCs during AMI. In conclusion, presence of large CC clusters was associated with increased inflammation (IL-1ß), increased arterial narrowing, and diminished reflow following percutaneous coronary intervention.

Temporal trends in peripheral arterial interventions: Observations from the blue cross blue shield of michigan cardiovascular consortium (BMC2 PVI).

OBJECTIVES: The aim is to examine trends in procedural indication, arterial beds treated, and device usage in peripheral arterial interventions (PVIs). BACKGROUND: There is little data on indication, vascular beds treated and devices utilized for peripheral arterial interventions. METHODS: We used data from 43 hospitals participating in the BMC2 VIC registry. PVIs were separated by year and divided by arterial segment. Lower extremity PVIs were subclassified as having been performed for claudication or critical limb ischemia (CLI). Yearly device usage was also included. A repeated measure ANOVA was used to determine trends. RESULTS: 44,650 PVIs were performed from 2006 to 2013. Renal interventions decreased from 18% of interventions in 2006 to 5.6% in 2013 (P < 0.001) and femoral-popliteal increased from 54.9% in 2006 to 64.5% in 2013 (P < 0.001). No significant trend was seen for aorta-iliac or below-the-knee interventions. 58.6% of PVIs were performed for claudication in 2006 and this decreased to 44.6% in 2013 (P = 0.025). Indications for CLI were 24.1% in 2006 and 47.5% in 2013 (P < 0.001). There were significant increases in the use of balloon angioplasty (P = 0.029) and cutting/scoring balloons (P < 0.001) while cryoballoon usage decreased (P < 0.001). No significant changes were found with stenting, atherectomy, and laser. CONCLUSIONS: There is a significant increase in patients presenting with CLI. Renal artery intervention rates are decreasing while femoral-popliteal interventions are increasing. Additionally, balloon angioplasty and cutting/scoring balloon usage is increasing. © 2017 Wiley Periodicals, Inc.

Impact of institutional culture on rates of transfusions during cardiovascular procedures: The Michigan experience.

BACKGROUND: Red blood cell (RBC) transfusions have been associated with morbidity and mortality in both coronary artery bypass grafting (CABG) and percutaneous coronary interventions (PCI). As a mechanism for identifying determinants of RBC practice, we quantified the relationship between a center's PCI and CABG transfusion rate. METHODS: We identified all patients undergoing CABG (n = 16,568) or PCI (n = 94,634) at each of 33 centers from 2010 through 2012 in the state of Michigan and compared perioperative RBC transfusion rates for CABG and PCI at each center. Crude and adjusted transfusion rates were modeled separately. We adjusted for common preprocedural risk factors (12 for CABG and 23 for PCI) and reported Pearson correlation coefficients based on the crude and risk-adjusted rates. RESULTS: As expected, RBC transfusion was more common after CABG (mean 46.5%) than PCI (mean 3.3%), with wide variation across centers for both (CABG min:max 26.5:71.3, PCI min:max 1.6:6.0). However, RBC transfusion rates were significantly correlated between CABG and PCI in both crude, 0.48 (P = .005), and adjusted, 0.53 (P = .001), analyses. These findings were consistent when restricting to nonemergent cases (radj = 0.44, P = .001). CONCLUSIONS: Red blood cell transfusion rates were significantly correlated between the CABG and PCI at individual hospitals in Michigan, independent of patient case mix. Future work should explore institutional practice patterns, philosophies, and guidelines for RBC transfusions.