Albree Tower-Rader

Pericardial Masses, Cysts and Diverticula: A Comprehensive Review Using Multimodality Imaging

Pericardial masses/tumors, cysts, and diverticula are quite rare. Presentation is variable and often patients may be asymptomatic with pericardial involvement initially only detected at time of autopsy. When patients do present with symptoms they are often non-specific and often mimic other conditions of the pericardium such as pericarditis, pericardial effusion, constriction or tamponade. Therefore, echocardiography and cross-sectional imaging are essential in identifying and characterizing pericardial disease. Imaging findings vary in specificity depending on the type of tumor. The purpose of this review is to describe the role of multi-modality imaging and characteristic findings in patients with pericardial masses/tumors, cysts, and diverticula.

Incremental Prognostic Utility of Left Ventricular Global Longitudinal Strain in Hypertrophic Obstructive Cardiomyopathy Patients and Preserved Left Ventricular Ejection Fraction

Background In obstructive hypertrophic cardiomyopathy patients with preserved left ventricular (LV) ejection fraction, we sought to determine whether LV global longitudinal strain (LV‐GLS) provided incremental prognostic utility. Methods and Results We studied 1019 patients with documented hypertrophic cardiomyopathy (mean age, 50±12 years; 63% men) evaluated at our center between 2001 and 2011. We excluded age <18 years, maximal LV outflow tract gradient <30 mm Hg, bundle branch block or atrial fibrillation, past pacemaker/cardiac surgery, including myectomy/alcohol ablation, and obstructive coronary artery disease. Average resting LV‐GLS was measured offline on 2‐, 3‐, 4‐chamber views using Velocity Vector Imaging (Siemens, Malvern, PA). Outcome was a composite of cardiac death and appropriate internal defibrillator (implantable cardioverter defibrillator) discharge. Maximal LV thickness, LV ejection fraction, indexed left atrial dimension, rest and maximal LV outflow tract gradient, and LV‐GLS were 2.0±0.2 cm, 62±4%, 2.2±4 cm/m2, 52±42 mm Hg, 103±36 mm Hg, and −13.6±4%. During 9.4±3 years of follow‐up, 668 (66%), 166 (16%), and 122 (20%), respectively, had myectomy, atrial fibrillation, and implantable cardioverter defibrillator implantation, whereas 69 (7%) had composite events (62 cardiac deaths). Multivariable competing risk regression analysis revealed that higher age (subhazard ratio, 1.04 [1.02–1.07]), AF during follow‐up (subhazard ratio, 1.39 [1.11–1.69]), and worsening LV‐GLS (subhazard ratio, 1.11 [1.05–1.22]) were associated with worse outcomes, whereas myectomy (subhazard ratio, 0.44 [0.25–0.72]) was associated with improved outcomes (all P<0.01). Sixty‐one percent of events occurred in patients with LV‐GLS worse than median (−13.7%). Conclusions In obstructive hypertrophic cardiomyopathy patients with preserved LV ejection fraction, abnormal LV‐GLS was independently associated with higher events, whereas myectomy was associated with improved outcomes.

A Comprehensive Review of Stress Testing in Hypertrophic Cardiomyopathy: Assessment of Functional Capacity, Identification of Prognostic Indicators, and Detection of Coronary Artery Disease

Hypertrophic cardiomyopathy is a heterogeneous condition that may present with functional limitation due to dyspnea on exertion, angina, or symptoms of heart failure. Although angina is a common symptom, it is thought to be multifactorial, including abnormal microvasculature and epicardial coronary artery disease. The role of stress testing in the detection of coronary artery disease and its limitations are discussed in this review. Stress testing yields additional information beyond the detection of ischemia, which is prognostic independent of the presence of coronary artery disease and can be beneficial in defining the presence of provocable left ventricular outflow tract obstruction, symptoms, response of heart rate and blood pressure to exercise, and functional capacity. Additional noninvasive imaging techniques, including speckle-tracking echocardiography and coronary flow velocity reserve, positron emission tomographic myocardial blood flow, delayed enhancement on cardiac magnetic resonance imaging, and computed tomographic angiography, are also discussed.

Phenotype–Genotype Correlation in Hypertrophic Cardiomyopathy: Less Signal, More Noise?

Identification of a genetic basis for hypertrophic cardiomyopathy (HCM) has proven to be more complex than originally postulated. Early reports in the 1950s and 1960s of clusters of patients within families with left ventricular hypertrophy (LVH), cardiac myocyte disarray, and fibrosis, as well as symptoms of heart failure and sudden cardiac death, with what seemed to be caused by an autosomal dominant pattern of inheritance, led to initial excitement regarding genetic testing in the 1990s.1 Although initial attempts to identify candidate genes led to the seminal discoveries of discrete mutations in the MYH7 (β-myosin heavy chain), which segregated within affected individuals in families,2 these mutations were not present in all families with HCM. Further analysis of affected families led to the identification of mutations in genes for other sarcomere proteins including other thick filaments (MYL2 [regulatory myosin light chain] and MYL3 [essential myosin light chain]), thin filaments (TNNT2 [cardiac troponin T], TNNI3 [cardiac troponin I], TNNC1 [cardiac troponin C], TPM-1 [α-tropomyosin], and ACTA [α-cardiac actin]), MYBPC3 (cardiac myosin-binding protein c), and z-disc proteins (ACTN2 [α-actinin 2] and MYOZ2 [myozenin 2]).1 At this point, >1400 mutations in 11 sarcomere protein genes have been identified, although ≈50% of identified mutations are in MYH7 or MYBPC3.3 Although the majority of mutations are private mutations within a family or as a de novo mutations, there are some HCM gene mutations referred to as founder mutations, which are highly conserved within populations that often have been historically geographically or culturally isolated. These occur almost exclusively in the MYBPC3 gene resulting in a truncated protein and delayed penetrance until after the reproductive years.1,4 At present, genetic testing identifies a known pathogenic or presumed pathogenic mutation in ≈30% to 40% of patients with phenotypic HCM. Both the Toronto Genotype score …