Imaging in Hypertrophic Cardiomyopathy: Beyond Risk Stratification.

A multimodality imaging evaluation in hypertrophic cardiomyopathy is often used for risk stratification. Recent developments in imaging have allowed for better diagnosis, prognosis, and decision-making for a variety of therapies from medical to interventional. Echocardiography and magnetic resonance have been integral in evaluating subtype, left ventricular function, tissue characterization, left atrial measurements, valvular function, and presence of left ventricular aneurysm and outflow tract obstruction. These factors have helped to quantify risk of atrial fibrillation and determine the likely usefulness of pharmacologic therapy and septal reduction therapy. This review covers these in detail.

Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.

BACKGROUND: Truncating variants in the Titin gene (TTNtvs) are common in individuals with idiopathic dilated cardiomyopathy (DCM). However, a comprehensive genomics-first evaluation of the impact of TTNtvs in different clinical contexts, and the evaluation of modifiers such as genetic ancestry, has not been performed. METHODS: We reviewed whole exome sequence data for >71 000 individuals (61 040 from the Geisinger MyCode Community Health Initiative (2007 to present) and 10 273 from the PennMedicine BioBank (2013 to present) to identify anyone with TTNtvs. We further selected individuals with TTNtvs in exons highly expressed in the heart (proportion spliced in [PSI] >0.9). Using linked electronic health records, we evaluated associations of TTNtvs with diagnoses and quantitative echocardiographic measures, including subanalyses for individuals with and without DCM diagnoses. We also reviewed data from the Jackson Heart Study to validate specific analyses for individuals of African ancestry. RESULTS: Identified with a TTNtv in a highly expressed exon (hiPSI) were 1.2% individuals in PennMedicine BioBank and 0.6% at Geisinger. The presence of a hiPSI TTNtv was associated with increased odds of DCM in individuals of European ancestry (odds ratio [95% CI]: 18.7 [9.1-39.4] {PennMedicine BioBank} and 10.8 [7.0-16.0] {Geisinger}). hiPSI TTNtvs were not associated with DCM in individuals of African ancestry, despite a high DCM prevalence (odds ratio, 1.8 [0.2-13.7]; P=0.57). Among 244 individuals of European ancestry with DCM in PennMedicine BioBank, hiPSI TTNtv carriers had lower left ventricular ejection fraction (ß=-12%, P=3×10-7), and increased left ventricular diameter (ß=0.65 cm, P=9×10-3). In the Geisinger cohort, hiPSI TTNtv carriers without a cardiomyopathy diagnosis had more atrial fibrillation (odds ratio, 2.4 [1.6-3.6]) and heart failure (odds ratio, 3.8 [2.4-6.0]), and lower left ventricular ejection fraction (ß=-3.4%, P=1×10-7). CONCLUSIONS: Individuals of European ancestry with hiPSI TTNtv have an abnormal cardiac phenotype characterized by lower left ventricular ejection fraction, irrespective of the clinical manifestation of cardiomyopathy. Associations with arrhythmias, including atrial fibrillation, were observed even when controlling for cardiomyopathy diagnosis. In contrast, no association between hiPSI TTNtvs and DCM was discerned among individuals of African ancestry. Given these findings, clinical identification of hiPSI TTNtv carriers may alter clinical management strategies.

Carbonyl-twisted 6-acyl-2-dialkylaminonaphthalenes as solvent acidity sensors.

Derivatives of 2-propionyl-6-dimethylaminonaphthalene (PRODAN) with twisted carbonyl groups were investigated as highly responsive sensors of H-bond donating ability. The PRODAN derivative bearing a pivaloyl group (4) was prepared. The torsion angle between the carbonyl and naphthalene is 26° in the crystal. It shows solvatochromism that is similar to five other PRODAN derivatives (1-3, 5, 6). Twisted-carbonyl derivatives 3, 4, and 6 show strong fluorescence quenching in protic solvents. The order of magnitude of the quenching is linearly related to the H-bond donating ability of the solvent (SA) but not to other solvent properties. Binary mixtures of protic solvents show specific interaction effects with respect to quenching and solvatochromism. Aggregation in water is an issue with the pivaloyl derivatives.

A Rare Case of Restrictive Cardiomyopathy Presenting With Large, Recurrent Pericardial Effusions.

The association between large pericardial effusion and restrictive cardiomyopathy (RCM) is uncommon and has seldom been described. We describe an uncommon case of a 31-year-old male with RCM who presented with large, recurrent pericardial effusion, heart failure, and echocardiographic findings showing progressive worsening of diastolic function even after total pericardiectomy who was eventually transferred for cardiac transplant evaluation.

Prognostic implications of prior contrast reaction in patients with emergency premedication before undergoing percutaneous coronary intervention.

BACKGROUND: Patients with iodinated contrast material (ICM) adverse reactions are at increased risk for breakthrough reactions. Previous studies suggest that the severity of a prior ICM adverse reaction corresponds to the severity of a repeat reaction. OBJECTIVE: We investigated whether the severity of prior ICM adverse reactions in patients receiving emergency premedication therapy prior to PCI predicts outcomes. METHODS: A retrospective observational study of percutaneous coronary intervention (PCI) encounters between January 1, 2005, and May 30, 2018, was conducted at Geisinger Medical Center. Patients with ICM adverse reactions premedicated with an emergency premedication regimen prior to PCI were included in the study. PCIs were stratified based on the severity of the index ICM adverse reactions; PCIs with a prior severe reaction were compared to PCIs with a prior mild-moderate reaction. RESULTS: We evaluated 604 PCI, of these, 144 (23.8%) had prior severe reactions and 460 (76.2%) had mild-to-moderate reactions. Nine patients had breakthrough reactions, of which seven were of the same or decreased severity in comparison to the index reactions. The overall breakthrough reactions occurred in 1 of 144 patients (0.7%) with an initial severe reaction and in 8 of 460 (1.7%) with an initial mild/moderate reaction (p = 0.69). Outcomes including length of hospital stay and 30-day mortality were similar for PCI with or without severe index ICM reactions. CONCLUSION: Frequency and severity of breakthrough reaction and clinical outcomes in patients treated with emergency premedication regimen prior to PCI were independent of the severity of index ICM reactions.

Metastatic Cancer Masquerading as Acute Coronary Syndrome.

Patients with heart metastases could present insidiously, with symptoms that mimic those of congestive heart failure or acute coronary syndrome. Our patient initially presented with vague lower sternal and abdominal pain and had a past medical history of coronary artery disease. Her first two troponin levels were elevated, and her EKG was significant for ischemic changes. Echocardiography showed a large mass in the right ventricle and the presence of pericardial effusion. CT scan of the thorax, abdomen, and pelvis showed multiple pulmonary nodules as well as liver metastases. Our patient opted not to pursue further imaging such as cardiac MRI or a liver biopsy. It is imperative that medical professionals are aware of the presentational overlap between acute coronary syndrome and metastatic heart disease, in order to ensure proper diagnosis and management of the latter with echocardiography, cardiac MRI, and possibly surgery.