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Heart Failure Clinics

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https://www.readbyqxmd.com/read/29525651/on-the-road-from-gene-to-therapy-in-inherited-cardiomyopathies
#1
EDITORIAL
Giuseppe Limongelli, Eduardo Bossone, Perry M Elliott, Sharlene M Day
No abstract text is available yet for this article.
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525650/clinical-presentation-and-natural-history-of-hypertrophic-cardiomyopathy-in-rasopathies
#2
REVIEW
Giulio Calcagni, Rachele Adorisio, Simone Martinelli, Giorgia Grutter, Anwar Baban, Paolo Versacci, Maria Cristina Digilio, Fabrizio Drago, Bruce D Gelb, Marco Tartaglia, Bruno Marino
RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525649/genetic-infiltrative-cardiomyopathies
#3
REVIEW
Mary E Sweet, Luisa Mestroni, Matthew R G Taylor
Infiltrative cardiomyopathies are characterized by abnormal accumulation or deposition of substances in cardiac tissue leading to cardiac dysfunction. These can be inherited, resulting from mutations in specific genes, which engender a diverse array of extracardiac features but overlapping cardiac phenotypes. This article provides an overview of each inherited infiltrative cardiomyopathy, describing the causative genes, the pathologic mechanisms involved, the resulting cardiac manifestations, and the therapies currently offered or being developed...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525648/diagnostic-criteria-genetics-and-molecular-basis-of-arrhythmogenic-cardiomyopathy
#4
REVIEW
Cristina Basso, Kalliopi Pilichou, Barbara Bauce, Domenico Corrado, Gaetano Thiene
Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease characterized by myocardial atrophy and fibrofatty replacement of the ventricular myocardium, at risk of sudden cardiac death, particularly in the young and athletes. Because there is no "gold standard" to reach the diagnosis of AC, multiple categories of diagnostic information have been combined, including imaging, electrocardiographic changes, arrhythmias, tissue characterization, and family history. However, the routine use of contrast-enhanced cardiac magnetic resonance increasingly revealed left dominant AC, a variant that is not well addressed in the diagnostic criteria and still escapes clinical identification...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525647/controversies-surrounding-exercise-in-genetic-cardiomyopathies
#5
REVIEW
Gourg Atteya, Rachel Lampert
Exercise and sports are an integral part of daily life for millions of Americans, with 16% of the US population older than age 15 years engaged in sports or exercise activities (Bureau of Labor statistics). The physical and psychological benefits of exercise are well-recognized. However, high-profile cases of athletes dying suddenly on the field, often due to undiagnosed genetic cardiomyopathies, raise questions about the risks and benefits of exercise for those with cardiomyopathy.
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525646/gene-editing-and-gene-based-therapeutics-for-cardiomyopathies
#6
REVIEW
Joyce C Ohiri, Elizabeth M McNally
With an increasing understanding of genetic defects leading to cardiomyopathy, focus is shifting to correcting these underlying genetic defects. One approach involves treating mutant RNA through antisense oligonucleotides; the first drug has received regulatory approval to treat specific mutations associated with Duchenne muscular dystrophy. Gene editing is being evaluated in the preclinical setting. For inherited cardiomyopathies, genetic correction strategies require tight specificity for the mutant allele...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525645/clinical-and-molecular-aspects-of-cardiomyopathies-emerging-therapies-and-clinical-trials
#7
REVIEW
Niccolò Maurizi, Enrico Ammirati, Raffaele Coppini, Amelia Morrone, Iacopo Olivotto
Cardiomyopathies are diseases of the myocardium, often genetically determined, associated with heterogeneous phenotypes and clinical manifestations. Despite significant progress in the understanding of these conditions, available treatments mostly target late complications, whereas approaches that promise to interfere with the primary mechanisms and natural history are just beginning to surface. The last decade has witnessed the establishment of large international cardiomyopathy registries, paralleled by advances in cardiac imaging and genetic testing, deeper understanding of the pathophysiology and growing involvement by the pharmaceutical industry...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525644/biophysical-derangements-in-genetic-cardiomyopathies
#8
REVIEW
Melissa L Lynn, Sarah J Lehman, Jil C Tardiff
This article focuses on three "bins" that comprise sets of biophysical derangements elicited by cardiomyopathy-associated mutations in the myofilament. Current therapies focus on symptom palliation and do not address the disease at its core. We and others have proposed that a more nuanced classification could lead to direct interventions based on early dysregulation changing the trajectory of disease progression in the preclinical cohort. Continued research is necessary to address the complexity of cardiomyopathic progression and develop efficacious therapeutics...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525643/genetic-pathogenesis-of-hypertrophic-and-dilated-cardiomyopathy
#9
REVIEW
Amanda C Garfinkel, Jonathan G Seidman, Christine E Seidman
Sarcomere cardiomyopathies are genetic diseases that perturb contractile function and lead to hypertrophic or dilated myocardial remodeling. Identification of preclinical mutation carriers has yielded insights into the earliest biomechanical defects that link pathogenic variants to cardiac dysfunction. Understanding this early molecular pathophysiology can illuminate modifiable pathways to reduce the emergence of overt cardiomyopathy and curb adverse outcomes. Here, the authors review current understandings of how human hypertrophic cardiomyopathy- and hypertrophic dilated cardiomyopathy-linked mutations disrupt the normal structure and function of the sarcomere...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525642/genetic-testing-for-cardiomyopathies-in-clinical-practice
#10
REVIEW
Jodie Ingles, Richard D Bagnall, Christopher Semsarian
Cardiac genetic testing for inherited cardiomyopathies has become a routine aspect of care. Advances in genetic testing technologies have made testing more comprehensive and affordable. With this increase come greater understanding of the genetic basis of these diseases, but also shines a light on the challenges. Ability to ascertain whether a rare variant is causative of disease is problematic. A genetic diagnosis in a family can offer an invaluable tool for cascade genetic testing of at-risk relatives and avenues for reproductive testing options...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29525641/epidemiology-and-clinical-aspects-of-genetic-cardiomyopathies
#11
REVIEW
Daniele Masarone, Juan Pablo Kaski, Giuseppe Pacileo, Perry M Elliott, Eduardo Bossone, Sharlene M Day, Giuseppe Limongelli
Cardiomyopathies (CMPs) are an increasingly recognized cause of heart failure and sudden death, particularly in young patients. Since their original description, major advances were achieved in the phenotype knowledge, natural history, and nosography of CMPs leading to different classification systems and therapies. However, a deeper knowledge of different causes, genotype-phenotype link, and natural history in different disease stages (preclinical, overt disease, and end-stage disease) according to a recognized standard of care (ie, international guidelines) is needed...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153205/biomarkers-of-heart-failure-past-present-and-future
#12
EDITORIAL
Toru Suzuki, Eduardo Bossone
No abstract text is available yet for this article.
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153204/proteomic-biomarkers-of-heart-failure
#13
REVIEW
Muhammad Zubair Israr, Liam M Heaney, Toru Suzuki
Heart failure (HF) is associated with significant morbidity and mortality. Biomarkers are used to assist clinicians with timely diagnosis, prognosis, and risk prediction of patients for personalized treatment. Using modern proteomic methods such as mass spectrometry, an increasing number of novel biomarkers have been identified that further aid clinicians in the early diagnosis and outcome prediction of HF. This article focuses on the array of common and novel protein-based biomarkers that provide diagnostic and prognostic information in HF...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153203/galectin-3-in-heart-failure-an-update-of-the-last-3-years
#14
REVIEW
Carolin Gehlken, Navin Suthahar, Wouter C Meijers, Rudolf A de Boer
Galectin-3 plays a role in tissue inflammation, repair, and fibrosis. This article specifically focuses on heart failure (HF), in which galectin-3 has been shown to be a useful biomarker in prognosis and risk stratification, especially in HF with preserved ejection fraction. Experimental research has shown that galectin-3 directly induces pathologic remodeling of the heart, and is therefore considered a culprit protein in the development of cardiac fibrosis in HF, with potentially relevant clinical implications...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153202/growth-hormone-as-biomarker-in-heart-failure
#15
REVIEW
Alberto M Marra, Emanuele Bobbio, Roberta D'Assante, Andrea Salzano, Michele Arcopinto, Eduardo Bossone, Antonio Cittadini
The impairment of growth hormone (GH)/insulin growth factor-1(IGF-1) plays a crucial role in chronic heart failure (CHF). Several studies have shown that patients affected by this condition display a more aggressive disease, with impaired functional capacity and poor outcomes. Interestingly, GH replacement therapy represents a possible future therapeutic option in CHF. In this review, the authors focus on the assessment of the main abnormalities in GH/IGF-1 axis in CHF, the underlying molecular background, and their impact on disease progression and outcomes...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153201/troponin-in-heart-failure
#16
REVIEW
Kevin S Shah, Alan S Maisel, Gregg C Fonarow
Cardiac troponin is an integral biomarker in the evaluation and management of patients with acute coronary syndrome. Troponin is also established as a valuable prognostic marker in patients with acute or chronic heart failure (HF). As the sensitivity of troponin assays transition to high sensitive troponin, more patients with HF will have detectable troponin. In this review, the authors discuss the current literature on the value of troponin in the management of patients with HF. Furthermore, the authors highlight the potential for future strategies to use troponin as a potential target for therapy in patients with HF...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153200/adrenomedullin-as-a-biomarker-of-heart-failure
#17
REVIEW
Toshio Nishikimi, Yasuaki Nakagawa
Adrenomedullin (AM) is a vasodilatory peptide originally discovered in human pheochromocytoma tissue. Although AM is highly expressed in the adrenal glands, heart, lungs, and kidneys, vascular endothelium and smooth muscle are thought to be the main source of plasma AM. The AM precursor is processed to AM-glycine, which is then converted to AM-mature through C-terminal amidation. In this process, mid-regional pro-adrenomedullin (MR-proAM) is also produced. Plasma AM, AM-mature, AM-glycine, and MR-proAM levels are all higher in patients with heart failure than healthy subjects in proportional to the disease severity...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153199/soluble-st2-in-heart-failure
#18
REVIEW
Cian P McCarthy, James L Januzzi
Suppression of tumorigenicity 2 (ST2) is a member of the interleukin (IL)-1 receptor family, whose role was originally established in the context of inflammatory and autoimmune diseases. More recently, testing for ST2 has been used in the setting of cardiovascular disease. The soluble form of ST2 is a decoy receptor that inhibits beneficial cardioprotective effects of IL-33; such inhibition results in cardiac hypertrophy, myocardial fibrosis, and ventricular dysfunction. Measurement of soluble ST2 has utility for assessing heart failure severity and prognosis...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153198/n-terminal-b-type-natriuretic-peptide-in-heart-failure
#19
REVIEW
Arthur Mark Richards
Plasma amino-terminal pro-B-type natriuretic peptide (NT-proBNP) is a guideline-mandated biomarker in heart failure (HF). Used as an inclusion criterion for therapeutic trials, NT-proBNP enriches trial populations and is a valid surrogate endpoint. Its diagnostic performance is best validated in acute decompensated HF (ADHF). NT-proBNP offers prognostic information independent of standard clinical predictors and refines risk stratification. With the advent of combined angiotensin 2 type 1 receptor blockade and neprilysin inhibition (ARNI) NT-proBNP retains its relationship to cardiac status and is the marker of choice in assessment of possible ADHF and in serial monitoring of HF patients receiving ARNI treatment...
January 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29153197/natriuretic-peptides-in-heart-failure-atrial-and-b-type-natriuretic-peptides
#20
REVIEW
Alan S Maisel, Jason M Duran, Nicholas Wettersten
The natriuretic peptides play a vital role in normal physiology and as counter-regulatory hormones in heart failure (HF). Clinical assessment of their levels (for B-type natriuretic peptide [BNP], N-terminal proBNP, and the midregion of N-terminal pro-atrial natriuretic peptide) have become valuable tools in diagnosing patients with HF as well as risk stratifying and guiding therapy. Their roles have further expanded beyond HF to other cardiovascular conditions and for risk stratification in asymptomatic individuals...
January 2018: Heart Failure Clinics
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