• In silico identification of mRNA targets of differentially expressed miRNAs showed a large proportion of genes involved in cardiac hypertrophy and cardiac beta-adrenergic receptor signaling and we showed reduced phosphorylation of cardiac troponin I in the HCM myocardium when compared with donor.HCM patients with MYBPC3 mutations have a specific miRNA expression profile. (eur.nl)
  • The MAVERICK-HCM trial aimed to assess the safety and tolerability of the drug, and to explore efficacy endpoints, including changes in N-terminal pro b-type natriuretic peptide (NT-proBNP) and cardiac troponin (cTn) levels. (cardiacrhythmnews.com)
  • There was a 34% decrease in cardiac troponin-I geometric mean in the pooled mavacamten group versus a 4% increase in PBO (p=0.009). (cardiacrhythmnews.com)
  • These results were also notable because troponin levels have additionally been correlated with the prognosis of myocardial fibrosis and hypertrophic cardiomyopathy. (cardiacrhythmnews.com)
  • Mutations in five different loci cause FHC and 3 disease genes have been identified: beta cardiac myosin heavy chain, alpha tropomyosin and cardiac troponin T. Because these genes encode contractile proteins, other FHC loci are predicted also to encode sarcomere components. (ox.ac.uk)
  • Mutations in TNNC1-encoded cardiac troponin C (cTnC) are a relatively rare cause of HCM. (elsevierpure.com)
  • Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha -tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay. (ox.ac.uk)
  • We therefore investigated the functional effects of two HCM mutations in alpha -tropomyosin, Asp175Asn and Glu180Gly, in the in vitro motility assay using recombinant human alpha -tropomyosin, expressed with an N-terminal alanine-serine extension (AStm) to mimic acetylation in vivo, and purified native human cardiac troponin. (ox.ac.uk)
  • By performing parallel experiments using either human cardiac or rabbit skeletal troponin we show that the cardiac-specific phenotype of HCM mutations in alpha -tropomyosin is not the result of more marked functional changes when interacting with cardiac troponin. (ox.ac.uk)
  • Delayed expression of cardiac hypertrophy and a favorable clinical course may hinder recognition of the heritable nature of mutations in the cardiac myosin-binding protein C gene. (nih.gov)
  • Due to the ventricular hypertrophy caused by amyloid deposition, CA has often been misdiagnosed as hypertrophic cardiomyopathy (HCM), which has main macroscopic characteristics of myocardial wall thickening and myocyte hypertrophy [ 2 , 3 ]. (hindawi.com)
  • Although HCM was written about and known as idiopathic hypertrophic subaortic stenosis (IHSS) or asymmetrical septal hypertrophy (ASH) decades ago, these terms were replaced by hypertrophic cardiomyopathy because the segmental hypertrophy can occur in any segment of the ventricle, not just the septum. (medscape.com)
  • Data link abnormal myocardial calcium kinetics to the cause of the inappropriate myocardial hypertrophy and specific features of hypertrophic cardiomyopathy (HCM), particularly in patients with diastolic functional abnormalities. (medscape.com)
  • Hypertrophic cardiomyopathy is a primary myocardial disorder with an autosomal dominant pattern of inheritance, characterised by an asymmetric thickening (hypertrophy) of the muscle of the left ventricle. (uni-saarland.de)
  • Patients with hypertrophic cardiomyopathy (HCM) exhibit variable expression of left ventricular hypertrophy (LVH), a major determinant of mortality and morbidity, which is partly due to the diversity of causal mutations, genetic background (modifier genes), and probably environmental factors. (korea.ac.kr)
  • We determined association of functional variants of tumor necrosis factor (TNF)-α, interleukin-6 (IL6), insulin-like growth factor-2 (IGF2), transforming growth factor-β1 (TGFB1), and aldosterone synthase (CYP11B2) genes, all previously implicated in cardiac hypertrophy, with the severity of LVH in patients with HCM. (korea.ac.kr)
  • Functional variants of other trophic factors, previously implicated in cardiac hypertrophy, were not associated with the indices of LVH. (korea.ac.kr)
  • Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disorder manifesting as cardiac hypertrophy with myocyte disarray and an increased risk of sudden death. (ox.ac.uk)
  • Defined as clinically unexplained hypertrophy of the left ventricle, hypertrophic cardiomyopathy (HCM) is traditionally understood as a disease of the cardiac sarcomere. (elsevierpure.com)
  • Cardiac hypertrophy is typified by enlargement of myocardial wall mass and changes in the gross anatomical dimensions of the ventricles. (europeanpharmaceuticalreview.com)
  • This condition is characterized by thickening (hypertrophy) of the heart (cardiac) muscle that can lead to heart failure. (medlineplus.gov)
  • Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. (genome.jp)
  • An angiotensin II-induced cardiac hypertrophy mouse model further verified the efficacy of DNJ in promoting cardiac mitochondrial function and alleviating cardiac hypertrophy in vivo. (jci.org)
  • Hypertrophic cardiomyopathy is a congenital or acquired disorder characterized by marked ventricular hypertrophy with diastolic dysfunction (eg, due to valvular aortic stenosis, coarctation of the aorta, systemic hypertension). (msdmanuals.com)
  • [ 17 ] Hypertrophy or bony overgrowth predominates in patients with lung cancer and HPOA, whereas acroosteolysis predominates in patients with cyanotic congenital heart disease and hypertrophic osteoarthropathy. (medscape.com)
  • Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder characterized by left ventricular hypertrophy , hyperdynamic contraction, and impaired relaxation of the heart . (bvsalud.org)
  • Novel insights into diminished cardiac reserve in non-obstructive hypertrophic cardiomyopathy from four-dimensional flow cardiac magnetic resonance component analysis. (ox.ac.uk)
  • We characterized flow component changes in non-obstructive HCM and assessed their relationship with phenotypic severity and sudden cardiac death (SCD) risk. (ox.ac.uk)
  • CONCLUSION: Non-obstructive HCM possesses a distinctive flow component distribution pattern characterised by greater direct flow proportions, and direct flow-stroke volume uncoupling indicative of diminished cardiac reserve. (ox.ac.uk)
  • Results from the phase 2 MAVERICK-HCM clinical trial, presented at the American College of Cardiology/World Congress of Cardiology's virtual scientific sessions ( ACC.20/WCC Virtual ) suggest that the use of mavacamten (MyoKardia) for the treatment of non-obstructive hypertrophic cardiomyopathy (nHCM) may be beneficial with longer-term treatment. (cardiacrhythmnews.com)
  • In constrast to obstructive HCM, where surgical myectomy or alcohol septal ablation can reliably improve symptoms, for patients with non-obstructive HCM, who develop symptoms refractory to medical therapy, cardiac transplant may be the only option," Ho said. (cardiacrhythmnews.com)
  • Ho described mavacamten as a novel drug developed to treat obstructive HCM, adding that it is a selective allosteric inhibitor of cardiac myosin, which reduces the number of myosin-actin cross-bridges, thus decreasing excessive contractility characteristic of HCM. (cardiacrhythmnews.com)
  • On the decreases in NT-proBNP levels, Ho said: "These promising results are the first demonstration of medical therapy improving NT-proBNP levels in patients with non-obstructive HCM, and suggests physiologic benefit from mavacamten, potentially improving cardiac wall stress. (cardiacrhythmnews.com)
  • In a large subset of patients with hypertrophic obstructive cardiomyopathy, thickening of the heart muscle in a particular part of the interventricular septum causes obstruction to blood being ejected from the left ventricle. (wikipedia.org)
  • Hypertrophic obstructive cardiomyopathy (HOCM) represents a specific form of hypertrophic cardiomyopathy (HCM), which also manifests, at rest or with provocation (e.g., elevated heart rate, hypovolemia), with dynamic obstruction of left ventricular outflow tract (LVOT) ( Figure 10-1 ). (mhmedical.com)
  • The FDA has approved Mavacamten under the brand name CAMZYOS, the first-in-class medication for symptomatic obstructive hypertrophic cardiomyopathy and the first drug developed specifically for HCM. (4hcm.org)
  • In patients with hypertrophic obstructive cardiomyopathy (HOCM), the severity of obstruction can be highly variable depending on multiple factors such as BP, preload, and HR, among others. (acc.org)
  • There are two types of HCM including Obstructive, which is the most common type, hypertrophic obstructive cardiomyopathy (HOCM) means the wall (septum) between the left ventricle and right ventricle thickens. (researchandmarkets.com)
  • A systolic murmur, increased by Valsalva maneuver, is typically present in the hypertrophic obstructive type. (msdmanuals.com)
  • Clinical screening in adult life may be warranted for members of families characterized by hypertrophic cardiomyopathy. (nih.gov)
  • Survival was generally better than that observed among patients with hypertrophic cardiomyopathy caused by other mutations in the genes for sarcomere proteins. (nih.gov)
  • This disorder is caused by a mutations in genes encoding cardiac sarcomere protein, resulting in variety of phenotypical expression and clinical course. (medscape.com)
  • Cardiac MyBP-C is arrayed transversely in sarcomere A-bands and binds myosin heavy chain in thick filaments and titin in elastic filaments. (ox.ac.uk)
  • Both mutations are predicted to disrupt the high affinity, C-terminal, myosin-binding domain of cardiac MyBP-C. These findings define cardiac MyBP-C mutations as the cause of FHC on chromosome 11p and reaffirm that FHC is a disease of the sarcomere. (ox.ac.uk)
  • In many cases, hypertrophic cardiomyopathy is caused by a mutation in one of the genes that make up the cardiac sarcomere, and only a single copy of a defective gene is needed for the disorder to develop (autosomal dominant inheritance). (cdc.gov)
  • In up to 40% of affected people, HCM is caused by a specific change (mutation) in one of the genes that make up a structure called the cardiac sarcomere , which allows muscle cells to contract. (cdc.gov)
  • Mavacamten (formerly known as MYK-461), is a small molecule designed to regulate cardiac function at the sarcomere level by selectively but reversibly inhibiting the enzymatic activity of myosin , the fundamental motor of the sarcomere . (bvsalud.org)
  • This review summarizes the mechanism and translational progress of mavacamten from proteins to patients , describing how the mechanism of action and pharmacological characteristics, involving both systolic and diastolic effects, can directly target pathophysiological derangements within the cardiac sarcomere to improve cardiac structure and function in HCM. (bvsalud.org)
  • Association between left atrial myopathy and sarcomere mutation in patients with hypertrophic cardiomyopathy: insights into left atrial strain by MRI feature tracking. (cdc.gov)
  • DNA sequences encoding cardiac myosin-binding protein C were determined in unrelated patients with familial hypertrophic cardiomyopathy. (nih.gov)
  • To compare right ventricular thickness (RVT) and deformation of cardiac amyloidosis (CA) and hypertrophic cardiomyopathy (HCM) patients. (hindawi.com)
  • Although there is an increased incidence of sudden cardiac death (SCD) in the HCM patient with myocardial wall thickness greater than 30 mm or more, the majority of sudden deaths occur in HCM patients with myocardial wall thicknesses less than 30 mm. 1 Consequently, all HCM patients should undergo SCD risk stratification at initial evaluation. (mhmedical.com)
  • 4 Certainly, many patients with HCM are not detected and can present with SCD as the first manifestation of their cardiac disease. (mhmedical.com)
  • The method has been applied to the analysis of the local deformation patterns in a set of patients affected by hypertrophic cardiomyopathy in order to find the agreement between hyperenhanced zones in late enhancement images and areas in the myocardium with abnormal tensor values (both the radial and the circumferential components as well as the shearing component have been accounted for). (uva.es)
  • Patients with apical HCM were less likely to present with history of syncope (2.4% vs. 10.2%, p = 0.02) and have family history of sudden cardiac death than those with non-apical HCM (5.9% vs. 15.8%, p = 0.02). (biomedcentral.com)
  • Rather, it occurs most frequently in neonates as part of a disseminated fungal infection, in patients following cardiac surgery, and in those who develop an intracardiac thrombus or valvular injury due to the presence of a central venous catheter (CVC). (medscape.com)
  • In pediatric patients, one fourth of fungal endocarditis cases have systemic candidal infection with cardiac involvement. (medscape.com)
  • Mavacamten, a precision medicine for hypertrophic cardiomyopathy: From a motor protein to patients. (bvsalud.org)
  • Cardiac amyloidosis (CA) is defined by the presence of extracellular amyloid deposition within the myocardium of the whole heart, leading to biventricular wall thickening with impaired relaxation and the loss of ventricular elasticity [ 1 ]. (hindawi.com)
  • Myocardial strain imaging, a reproducible measure of LV systolic function, can identify subclinical LV dysfunction and patterns that suggest specific cardiomyopathies (eg, ischemic cardiomyopathy, amyloidosis, hypertrophic cardiomyopathy, chemotherapy-induced cardiotoxicity). (medscape.com)
  • The properties of mutant contractile proteins that cause hypertrophic cardiomyopathy (HCM) have been investigated in expression studies and in mouse models. (ox.ac.uk)
  • Why does apical hypertrophic cardiomyopathy have a favorable outcome than non-apical types? (biomedcentral.com)
  • This study sough to investigate the difference in cardiac magnetic resonance (CMR) and echocardiographic and clinical manifestations between apical hypertrophic cardiomyopathy (HCM) and non-apical HCM. (biomedcentral.com)
  • Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition, with an associated increased risk of ventricular arrhythmias and sudden cardiac death. (centenary.org.au)
  • Implantable cardiac defibrillators (ICDs) are highly effective in terminating malignant ventricular arrhythmias in this group, but they are associated with significant morbidity, such as inappropriate shocks and device complications. (centenary.org.au)
  • Exercise-dependent cardiac arrhythmias can lead to sudden death. (uni-saarland.de)
  • This affects the electrical functioning of the heart and may lead to malignant arrhythmias, syncope and cardiac arrest. (uni-saarland.de)
  • Following on last week's article reviewing the general approach to screening for inherited cardiac diseases, see here the disorder-specific approach to screening from detecting conduction and structural disorders through to arrhythmias and channelopathies. (escardio.org)
  • In response, international regulatory agreements were developed that mandate testing of all new drugs, both cardiac and non-cardiac, for cardiac liability, including drug-induced long QT interval (LQT) and risk for development of life-threatening arrhythmias, such as Torsade de Pointes (TdP) 5 . (nature.com)
  • To study the etiopathogenesis of this challenging and arrhythmias are major cardiac manifestation. (who.int)
  • Subsequently, they found this to be the gene encoding for beta cardiac myosin heavy chain. (medscape.com)
  • Background: The 12-lead surface electrocardiographic (ECG) analysis is able to provide independent predictors of prognosis in several cardiovascular settings, including hypertrophic cardiomyopathy (HCM). (uniroma1.it)
  • More men than women experienced cardiac arrest, and those who survived the episode tended to be older. (latimes.com)
  • Thanks to technologic advances in cardiac imaging, multimodality studies provide insight into the pathophysiology of both ischemic and nonischemic cardiomyopathy. (medscape.com)
  • Mutations in the gene for cardiac myosin-binding protein C account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy. (nih.gov)
  • Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. (ox.ac.uk)
  • If you don't know what this is… sudden cardiac arrest occurs after a chest blow. (4hcm.org)
  • Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. (nature.com)
  • Four teenagers drank alcohol before sudden cardiac arrest. (nature.com)
  • Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. (nature.com)
  • Alcohol intake can trigger cardiac arrest and should be strictly avoided. (nature.com)
  • The spectrum of clinical presentations included sudden unexpected death in children before the age of 2 years, mitochondrial disease leading to death in infants aged between 1 month and 2 years, sudden cardiac arrest following the ingestion of small amounts of alcohol in teenagers, and adults reporting acute sensitivity to alcohol. (nature.com)
  • Ingestion of alcohol could act as a trigger by increasing the stress in heart tissue, leading to arrhythmia and cardiac arrest. (nature.com)
  • it can cause a cardiac arrest. (researchandmarkets.com)
  • Out-of-hospital cardiac arrest in Singapore: Can we do better? (annals.edu.sg)
  • About 1 in 184,000 runners goes into cardiac arrest while participating in a long-distance race, a study finds, which may make marathons no more dangerous than other vigorous activities. (latimes.com)
  • Out of 10.9 million runners, there were 59 instances of cardiac arrest, 42 of them fatal. (latimes.com)
  • More cases of cardiac arrest happened during marathons than half-marathons, and more deaths occurred during marathons. (latimes.com)
  • BrS is associated with an increased risk of syncope, palpitations, chest pain, convulsions, difficulty in breathing (nocturnal agonal breathing) and/or Sudden Cardiac Death (SCD) secondary to PVT/VF, unexplained cardiac arrest or documented PVT/VF or Paroxysmal atrial fibrillation (AF) in the absence of apparent macroscopic or structural heart disease, electrolyte disturbance, use of certain medications or coronary heart disease and fever. (bvsalud.org)
  • The genotypes of these family members were determined, and the clinical status of 212 family members with mutations in the gene for cardiac myosin-binding protein C was assessed. (nih.gov)
  • eight defects (insertions, deletions, and splice mutations) were predicted to truncate cardiac myosin-binding protein C. The clinical expression of either missense or truncation mutations was similar to that observed for other genetic causes of hypertrophic cardiomyopathy, but the age at onset of the disease differed markedly. (nih.gov)
  • The clinical expression of mutations in the gene for cardiac myosin-binding protein C is often delayed until middle age or old age. (nih.gov)
  • One of the most frequent affected genes is MYBPC3, which encodes the thick filament protein cardiac myosin binding protein C. Despite the prevalence of HCM, disease pathology and clinical outcome of sarcomeric mutations are largely unknown. (eur.nl)
  • The gene encoding the cardiac isoform of myosin binding protein-C (cardiac MyBP-C) has recently been assigned to chromosome 11p11.2 and proposed as a candidate FHC gene. (ox.ac.uk)
  • Hypertrophic cardiomyopathy (HCM) is predominantly caused by mutations in genes encoding sarcomeric proteins. (eur.nl)
  • Hypertrophic Cardiomyopathy (HCM) is a genetic disorder caused by the caused by a change or mutation in one or more genes and is mostly passed on through families. (researchandmarkets.com)
  • Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. (medscape.com)
  • Congenital ion channel diseases (long QT or short QT syndromes, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia) are a group of rare cardiac arrhythmia syndromes caused by genetic changes in certain ion channels in the heart muscle. (uni-saarland.de)
  • Between 1 in 250 to 1 in 500 people are impacted by Hypertrophic Cardiomyopathy, a genetic heart condition that took the life of Lisa Salberg's sister. (4hcm.org)
  • While there may be a dearth of evidence on testing for many genetic conditions, for hypertrophic cardiomyopathy, multiple evidence-based recommendations support the evaluation of family history, cascade genetic testing in relatives, and genetic counseling of affected individuals as Tier 1 genomic applications. (cdc.gov)
  • Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy]. (cdc.gov)
  • The study seeks healthy volunteers as well as participants in the Hypertrophic Cardiomyopathy Registry. (nih.gov)
  • Alcohol septal ablation (ASA) is a minimally invasive heart procedure to treat hypertrophic cardiomyopathy (HCM). (wikipedia.org)
  • Although rare, cardiac tumors and other masses at times interfere with valve function, produce emboli, and dynamically obstruct blood flow through the heart. (mhmedical.com)
  • Frequently, a Swan-Ganz catheter is used for measuring right-heart pressures, collecting blood to measure oxygen saturation in various chambers, and determining cardiac output. (medscape.com)
  • Swedish has performed more than 46,000 cardiac surgeries, making us the most experienced heart surgery program in the Seattle area. (swedish.org)
  • Hypertrophic cardiomyopathy (HCM) is a type of heart disease marked by thickening of the heart muscle and other changes. (swedish.org)
  • However, if the hypertrophic response persists, the heart enters a critical transition from compensatory to a patho-physiological de-compensatory state which eventually leads to heart failure. (europeanpharmaceuticalreview.com)
  • Although these in vivo models have provided a useful means of studying the factors involved in this cardiac condition in the whole heart. (europeanpharmaceuticalreview.com)
  • Hypertrophic cardiomyopathy is a relatively common, inherited disorder that results in abnormal thickening of the heart walls. (cdc.gov)
  • Hypertrophic cardiomyopathy is a disease that causes the heart muscle to thicken. (nih.gov)
  • It is a heart muscle disease in which the muscle is thickened (hypertrophic). (researchandmarkets.com)
  • Kevin Turen reportedly suffered from acute cardiac dysfunction and hypertrophic heart disease that led to his death while driving on a California freeway. (thedailybeast.com)
  • Both exercise-induced molecular mechanisms and physiological cardiac remodeling have been previously studied on a whole heart level. (researchgate.net)
  • It is distinct from structural cardiac disorders such as coronary artery disease, valvular disorders, and congenital heart disorders. (msdmanuals.com)
  • Taken together, these data suggest that CeO2 nanoparticle administration may attenuate the hypertrophic response of the heart following PAH. (cdc.gov)
  • The pumping action of the heart usually maintains a balance between cardiac output and venous return. (medscape.com)
  • The cardiac cycle refers to events that occur during one heart beat and is split into ventricular systole (contraction/ejection phase) and diastole (relaxation/filling phase). (medscape.com)
  • A normal heart rate is approximately 72 beats/minute, and the cardiac cycle spreads over 0.8 seconds. (medscape.com)
  • HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. (genome.jp)
  • Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy. (cdc.gov)
  • Over the last few decades many in vivo experimental models (i.e. whole organisms and excised hearts) have been employed to elucidate the mechanisms that underlie the hypertrophic response. (europeanpharmaceuticalreview.com)
  • Both were diagnosed as sudden unexpected death in infancy (SUDI), attributed to a possible cardiac arrhythmia. (nature.com)
  • The presence and extent of late gadolinium enhancement (LGE), reflecting myocardial fibrosis, is closely correlated with increased cardiac mortality and strongly associated with surrogates of arrhythmia and subsequent sudden cardiac death. (biomedcentral.com)
  • This "Hypertrophic Cardiomyopathy- Pipeline Insight, 2023" report provides comprehensive insights about 10+ companies and 10+ pipeline drugs in Hypertrophic Cardiomyopathy pipeline landscape. (researchandmarkets.com)
  • Hypertrophic Cardiomyopathy- Pipeline Insight, 2023" report outlays comprehensive insights of present scenario and growth prospects across the indication. (researchandmarkets.com)
  • This seminar will briefly describe the CDC Tier-Classified Guideline Database, which currently includes three Tier 1 guidelines (the latest published less than one year ago, in December, 2020) addressing hypertrophic cardiomyopathy. (cdc.gov)
  • We report that cardiac MyBP-C is genetically linked to CMH4 and demonstrate a splice donor mutation in one family with FHC and a duplication mutation in a second. (ox.ac.uk)
  • Here, we report clinical and functional characterization of a novel TNNC1 mutation, A31S, identified in a pediatric HCM proband with multiple episodes of ventricular fibrillation and aborted sudden cardiac death. (elsevierpure.com)
  • Diagnosed at age 5, the proband is family history-negative for HCM or sudden cardiac death, suggesting a de novo mutation. (elsevierpure.com)
  • Moreover, CMR tissue tracking (TT) technique, which could measure cardiac muscle motion and both LV and RV deformation, has emerged as more sensitive indicators than the ejection fraction (EF) [ 8 - 12 ]. (hindawi.com)
  • The disease is characterised by a replacement of cardiac muscle tissue by connective tissue and fat, particularly in the right ventricle. (uni-saarland.de)
  • Taken together, CITED4 expression is necessary for exercise-induced regional remodeling of the heart's microstructural helicity revealing how a key molecular regulator of cardiac remodeling manifests into downstream local tissue-level changes. (researchgate.net)
  • Expression of transcription factor CITED4 is necessary for exercise-induced regional remodeling of the heart's microstructural helicity, revealing how a key molecular regulator of cardiac remodeling mediates local tissue-level changes. (researchgate.net)
  • AIMS: Hypertrophic cardiomyopathy (HCM) is characterized by hypercontractility and diastolic dysfunction, which alter blood flow haemodynamics and are linked with increased risk of adverse clinical events. (ox.ac.uk)
  • Biallelic hypomorphic variants in PPA2 , encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. (nature.com)
  • The role of pyrophosphatase 2 (PPA2) in mitochondrial disease has recently emerged with the discovery of biallelic PPA2 variants that cause a partial loss of gene function (hypomorphs) within families affected by recurrent sudden cardiac death in siblings. (nature.com)
  • Another common feature of mitochondrial complex V deficiency is hypertrophic cardiomyopathy. (medlineplus.gov)
  • Due to heterogeneity in clinical manifestations, conventional HCM drugs have limitations for mitochondrial hypertrophic cardiomyopathy. (jci.org)
  • These results demonstrated that DNJ could be a potential mitochondrial rescue agent for mitochondrial hypertrophic cardiomyopathy. (jci.org)
  • During SAM, the mitral valve and valve apparatus are sucked into the LV outflow tract by a Venturi effect of high-velocity blood flow, resulting in obstruction of flow and decrease in cardiac output. (msdmanuals.com)
  • Previous work has demonstrated that coronary microvascular abnormalities contribute critically to cardiac impairment in hypertrophic cardiomyopathy. (medscape.com)
  • The syndrome is caused by changes in the structure and function of certain cardiac ion channels and reduced expression of Connexin 43 (Cx43) in the Right Ventricle (RV), predominantly in the Right Ventricular Outflow Tract (VSVD), causing electromechanical abnormalities. (bvsalud.org)
  • Risk stratifying tools are expanding with improved understanding of advanced imaging modalities, such as late gadolinium enhancement on cardiac magnetic resonance imaging (cMRI). (centenary.org.au)
  • Four-dimensional flow cardiac magnetic resonance (4D-flow CMR) enables comprehensive characterization of ventricular blood flow patterns. (ox.ac.uk)
  • When available, cardiac histology or magnetic resonance image (MRI) frequently showed evidence of myocardial fibrosis. (nature.com)
  • Cardiac Surgery: A Complete Guide. (wikipedia.org)
  • Cardiac bypass surgery involves using some of the most advanced surgical techniques available, such as minimally invasive, videoscopic-assisted valve repair and replacement. (swedish.org)
  • Our cardiac-surgery team is committed to providing you with optimal long-term results and keeping your best interests in mind during every medical decision and every procedure. (swedish.org)
  • The results using human cardiac regulatory proteins reveal different effects of the HCM mutations in tropomyosin compared to studies using heterologous systems. (ox.ac.uk)
  • Dr. Mark Schoenfeld, MD is a Clinical Cardiac Electrophysiologist in New Haven, CT. (sharecare.com)
  • Dr. Mark Schoenfeld, MD is a Clinical Cardiac Electrophysiologist in New Haven, CT and has 44 years experience. (sharecare.com)
  • Dr. Krishna Pothineni, MD is a Clinical Cardiac Electrophysiologist in Kansas City, MO. (sharecare.com)
  • These findings are consistent with symmetric concentric hypertrophic cardiomyopathy (HCM) with mild systolic anterior motion (SAM) and mild resting gradient of 16 mm Hg. (acc.org)
  • The primary focus of the seminar will be on the genetics of hypertrophic cardiomyopathy and the nexus between genetics and clinical traits. (cdc.gov)
  • Primary hypertrophic osteoarthropathy (also termed primary pachydermoperiostosis or Touraine-Solente-Gole syndrome) was initially described by Friedreich in 1868 and then by Touraine et al in 1935, who recognized its familiar features. (medscape.com)