Differences in molecular phenotype in mouse and human hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity. We investigated the molecular basis of the cardiac phenotype in two mouse models at established disease stage (mouse-HCM), and human myectomy tissue (human-HCM). We analyzed the transcriptome in 2 mouse models with non-obstructive HCM (R403Q-MyHC, R92W-TnT)/littermate-control hearts at 24 weeks of age, and in myectomy tissue of patients with obstructive HCM/control hearts (GSE36961, GSE36946).

Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.

Genetic factors play an important role in nonischemic dilated cardiomyopathy (NIDC). However, prime opportunities remain for genetic discovery and prognostic understanding. TITIN gene truncating variant mutations (TTNtv) are of interest because of their frequent appearance in NIDC series.

Marked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2-Mediated COVID-19.

Objective: To explore the transcriptomic differences between patients with hypertrophic cardiomyopathy (HCM) and controls.

Patients And Methods: RNA was extracted from cardiac tissue flash frozen at therapeutic surgical septal myectomy for 106 patients with HCM and 39 healthy donor hearts. Expression profiling of 37,846 genes was performed using the Illumina Human HT-12v3 Expression BeadChip.

Differences in microRNA-29 and Pro-fibrotic Gene Expression in Mouse and Human Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is characterized by myocyte hypertrophy and fibrosis. Studies in two mouse models (R92W-TnT/R403Q-MyHC) at early HCM stage revealed upregulation of endothelin (ET1) signaling in both mutants, but TGFβ signaling only in TnT mutants. Dysregulation of miR-29 expression has been implicated in cardiac fibrosis.

Effect of Body Mass Index on Exercise Capacity in Patients With Hypertrophic Cardiomyopathy.

The objective of this study was to evaluate the relation between body mass index (BMI), exercise capacity, and symptoms in patients with hypertrophic cardiomyopathy (HC) and to utilize results of cardiopulmonary exercise tests (CPX) and transthoracic echocardiograms to understand the mechanism(s) of reduced exercise capacity across body mass index groups. Over a 6-year period, 510 consecutive patients with HC seen at a tertiary referral center underwent (CPX) and a transthoracic echocardiogram. Increasing BMI was associated with decreased exercise capacity as assessed by peak VO (ml/kg/min).

Women with hypertrophic cardiomyopathy have worse survival.

Aims: Sex differences in hypertrophic cardiomyopathy (HCM) remain unclear. We sought to characterize sex differences in a large HCM referral centre population.

Methods And Results: Three thousand six hundred and seventy-three adult patients with HCM underwent evaluation between January 1975 and September 2012 with 1661 (45.

Inpatient Mortality Risk Scores and Postdischarge Events in Hospitalized Heart Failure Patients: A Community-Based Study.

Background: The Acute Decompensated Heart Failure National Registry (ADHERE) and Get With The Guidelines (GWTG) registries have developed simple heart failure (HF) in-hospital mortality risk scores. We hypothesized that HF scores predictive of in-hospital mortality would perform as well for early postdischarge mortality risk stratification.

Methods And Results: In this single-center, community-based, retrospective study of all consecutive primary HF hospitalizations (6203 hospitalizations in 3745 patients) from 2000 to 2013, the ADHERE and GWTG risk scores were calculated from admission data.

The Natural History of Nonobstructive Hypertrophic Cardiomyopathy.

Objective: To describe the survival of a large nonobstructive hypertrophic cardiomyopathy (NO-HCM) cohort and to identify risk factors for increased mortality in this population.

Patients And Methods: Patients were identified from the Mayo Clinic HCM database from January 1, 1975, through November 30, 2006, for this retrospective observational study. Patients with resting or provocable left ventricular outflow tract gradients were excluded.

Pulmonary hypertension is associated with worse survival in hypertrophic cardiomyopathy.

Aims: Pulmonary hypertension (PH) is associated with increased mortality in various forms of left-sided heart disease. However, the implications of PH in hypertrophic cardiomyopathy (HCM) have not been elucidated. The objective of this study was to determine the prevalence and prognostic implications of PH in HCM.

Electrogram guidance: a method to increase the precision and diagnostic yield of endomyocardial biopsy for suspected cardiac sarcoidosis and myocarditis.

Objectives: The aim of this study was to describe the method used to perform electrogram-guided EMB and correlate electrogram characteristics with pathological and clinical outcomes.

Background: Endomyocardial biopsy (EMB) is valuable in determining the underlying etiology of a cardiomyopathy. The sensitivity, however, for focal disorders, such as lymphocytic myocarditis and cardiac sarcoidosis (CS), is low.

Left atrial anatomy and physiology: echo/Doppler assessment.

Purpose Of Review: This article provides a state-of-the-art perspective of left atrial anatomy and physiology.

Recent Findings: Left atrial structure and function can be used to reflect and quantify the physiologic state of complex disease processes. No single left atrial anatomic, functional, or clinical feature will adequately define a complex system.

Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.

Background: Incomplete penetrance and variable expression of hypertrophic cardiomyopathy (HCM) is well appreciated. Common genetic polymorphisms variants that may affect HCM penetrance and expression have been predicted but are not well established.

Methods And Results: We performed a case-control genomewide association study to identify common HCM-associated genetic polymorphisms and then asked whether such common variants were more represented in HCM or could explain the heterogeneity of HCM phenotypes.