Search results for "hypertrophic cardiomyopathy"
showing 10 items of 22 documents
Comparison of Nonclassic and Classic Phenotype of Hypertrophic Cardiomyopathy Focused on Prognostic Cardiac Magnetic Resonance Parameters: A Single-C…
2022
Patients with nonclassic phenotypes (NCP)—more advanced stages of hypertrophic cardiomyopathy (HCM)—constitute an intriguing and heterogeneous group that is difficult to diagnose, risk-stratify, and treat, and often neglected in research projects. We aimed to compare cardiac magnetic resonance (CMR) parameters in NCP versus classic phenotypes (CP) of HCM with special emphasis given to the parameters of established and potential prognostic importance, including numerous variables not used in everyday clinical practice. The CMR studies of 88 patients performed from 2011 to 2019 were postprocessed according to the study protocol to obtain standard and non-standard parameters. In NCP, the late …
Prognostic Role of Late Gadolinium Enhancement in Patients With Hypertrophic Cardiomyopathy and Low-to-Intermediate Sudden Cardiac Death Risk Score
2019
Sudden cardiac death (SCD) is the most life-threating complication of hypertrophic cardiomyopathy. Guidelines of the European Society of Cardiology (ESC) suggest the implantation of an implantable cardioverter defibrillator in primary prevention according to a 5-year risk SCD score >= 6%. The aim of the study is to evaluate the prognostic role of late gadolinium enhancement (LGE) in patients with a 5-year risk SCD score <6%. In this multicenter study, we performed cardiac magnetic resonance in 354 consecutive hypertrophic cardiomy-opathy patients (257 males, range of age 54 +/- 17) with a risk SCD score <6% (302 with <4% and 52 with >= 4 and <6% risk). Hard cardiac events,…
Oxidative Stress Markers in Hypertrophic Cardiomyopathy
2021
Background and Objectives: Hypertrophic cardiomyopathy (HCM) depends on the primary impairment of sarcomeres, but it can also be associated with secondary alterations in the heart related to oxidative stress. The present study aimed to examine oxidative-antioxidant disturbances in patients with HCM compared with control individuals. Materials and Methods: We enrolled 52 consecutive HCM patients and 97 controls without HCM. The groups were matched for age, body mass index, and sex. Peripheral blood was collected from all patients to determine the total antioxidant capacity (TAC), total oxidant status (TOS), lipid hydroperoxide (LPH), and malondialdehyde (MDA). The oxidative stress index (OSI…
Usefulness of DNA quantification in diagnosis of hypertrophic cardiomyopathies
2006
Hypertrophic cardiomyopathies (HCM) are a frequent cause of sudden death in both young people and adults. Different cardiomyopathies can be distinguished according to the etiological agent and, although there are morphological differences too, alterations in the quantity of DNA in the cardiomyocytes may play an important role in their pathogenesis and evolution. To understand the characteristics and the behaviour of the DNA index in hypertrophic cardiomyopathies, we have studied thirty cases (10 primaries or essential, 10 hypertensives and 10 toxic) and compared the results with those obtained for 10 macroscopically normal hearts. The results showed that the different cardiomyopathies were …
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
2021
AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…
Hypertrophic cardiomyopathy associated with polyarteritis nodosa: A case of sudden cardiac death
2018
This case concerns a rare sudden cardiac death characterized by macroscopic and microscopic postmortem findings of hypertrophic cardiomyopathy and polyarteritis nodosa. A complete autopsy was carried out, and histological and histochemical methods were employed. The cause of death was acute multifocal ischemic myocitolitic damage caused by both myocardial structural alteration attributable to hypertrophic cardiomyopathy (widespread interstitial fibrosis and multifocal myocyte disarray) and coronary arteritis attributable to polyarteritis nodosa. This is the first case in which the cause of death was attributed to both diseases.
Reconnoitering the Role of Long-Noncoding RNAs in Hypertrophic Cardiomyopathy: A Descriptive Review
2021
Hypertrophic cardiomyopathy (HCM) is the most common form of hereditary cardiomyopathy. It is characterized by an unexplained non-dilated hypertrophy of the left ventricle with a conserved or elevated ejection fraction. It is a genetically heterogeneous disease largely caused by variants of genes encoding for cardiac sarcomere proteins, including MYH7, MYBPC3, ACTC1, TPM1, MYL2, MYL3, TNNI3, and TNNT23. Preclinical evidence indicates that the enhanced calcium sensitivity of the myofilaments plays a key role in the pathophysiology of HCM. Notably, this is not always a direct consequence of sarcomeric variations but may also result from secondary mutation-driven alterations. Long non-coding R…
Left ventricular hypertrophy or storage disease? the incremental value of speckle tracking strain bull's-eye
2017
Left ventricular hypertrophy (LVH) develops in response to a variety of physical, genetic, and biochemical stimuli and represents the early stage of ventricular remodeling. In patients with LVH, subclinical left ventricular (LV) dysfunction despite normal ejection fraction (EF) may be present before the onset of symptoms, which portends a dismal prognosis. Strain measurement with two-dimensional speckle tracking echocardiography (STE) represents a highly reproducible and accurate alternative to LVEF determination. The present review focuses on current available evidence that supports the incremental value of STE in the diagnostic and prognostic workup of LVH. When assessing the components o…
Could thiazolidinediones increase the risk of heart failure in Friedreich's ataxia patients?
2011
Clinical evidence and the recent decisions of the European Medicines Agency and the Food and Drug Administration challenge the safety of thiazolidinediones treatment. Recently, this treatment has been suggested for Friedreich's ataxia because thiazolidinediones improve neurological symptoms. Hypertrophic cardiomyopathy is the most prevalent cardiac feature and the cause of premature death in Friedreich's ataxia patients. We recommend that therapy with peroxisome proliferator-activated receptor-gamma agonists like thiazolidinediones be taken with caution, as they cause a decrease in the number of fast fibers and an increase in mitochondrial biogenesis in cardiac muscle because of the inducti…
Hypertrophic cardiomyopathy and fibrosis: correlation between late gadolinium enhancement on CMR and speckle tracking imaging using Ultrasound
2015
Background Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiovascular disorder and represents one of the most common cause of heart related sudden death in young adults. Myocardial fibrosis seems to be an independant predictor of adverse events including sudden death, ventricular arrhythmias and heart failure. While late gadolinium enhancement (LGE) on Cardiac Magnetic Resonance (CMR) is actually the gold-standard to detect fibrosis, new techniques are being evaluated such as 2D strain echocardiography.