Inherited cardiomyopathies

Miles, Chris; Fanton, Zephryn; Tomé, Maite; Behr, Elijah R.

doi:10.1136/bmj.l1570

Cited by 16 publications

(21 citation statements)

References 63 publications

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“…Inherited cardiomyopathies show selective myocardial metabolic changes that correlate with HF progression and severity. The most inherited cardiomyopathies caused by autosomal dominant transmission of single-gene disorders include hypertrophic cardiomyopathy, dilated cardiomyopathy and arrhythmogenic cardiomyopathy [85] (Table 1).…”

Section: Cardiometabolic Profile In Inherited Cardiomyopathiesmentioning

confidence: 99%

Cardiometabolism as an Interlocking Puzzle between the Healthy and Diseased Heart: New Frontiers in Therapeutic Applications

Pasqua

Rocca

Giglio

et al. 2021

JCM

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Cardiac metabolism represents a crucial and essential connecting bridge between the healthy and diseased heart. The cardiac muscle, which may be considered an omnivore organ with regard to the energy substrate utilization, under physiological conditions mainly draws energy by fatty acids oxidation. Within cardiomyocytes and their mitochondria, through well-concerted enzymatic reactions, substrates converge on the production of ATP, the basic chemical energy that cardiac muscle converts into mechanical energy, i.e., contraction. When a perturbation of homeostasis occurs, such as an ischemic event, the heart is forced to switch its fatty acid-based metabolism to the carbohydrate utilization as a protective mechanism that allows the maintenance of its key role within the whole organism. Consequently, the flexibility of the cardiac metabolic networks deeply influences the ability of the heart to respond, by adapting to pathophysiological changes. The aim of the present review is to summarize the main metabolic changes detectable in the heart under acute and chronic cardiac pathologies, analyzing possible therapeutic targets to be used. On this basis, cardiometabolism can be described as a crucial mechanism in keeping the physiological structure and function of the heart; furthermore, it can be considered a promising goal for future pharmacological agents able to appropriately modulate the rate-limiting steps of heart metabolic pathways.

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Section: Cardiometabolic Profile In Inherited Cardiomyopathiesmentioning

confidence: 99%

Cardiometabolism as an Interlocking Puzzle between the Healthy and Diseased Heart: New Frontiers in Therapeutic Applications

Pasqua

Rocca

Giglio

et al. 2021

JCM

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“…Cardiomyopathies are defined as a heterogeneous group of diseases of the myocardium, leading to abnormal structure and function [ 21 ]. They are usually inherited and are significant causes of heart failure and sudden cardiac death in young people [ 22 ]. Cardiomyopathies are typically classified into four main types based on their clinical phenotypes: Hypertrophic cardiomyopathy (HCM) is the most common form of genetic heart disease [ 23 ] and is characterized by a thickening of the left ventricle and diastolic dysfunction, myocyte hypertrophy, and disarray and by increased myocardial fibrosis [ 24 , 25 ].…”

Section: Existing Models Of Cardiomyopathiesmentioning

confidence: 99%

Cardiac Organoids to Model and Heal Heart Failure and Cardiomyopathies

et al. 2021

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Cardiac tissue engineering aims at creating contractile structures that can optimally reproduce the features of human cardiac tissue. These constructs are becoming valuable tools to model some of the cardiac functions, to set preclinical platforms for drug testing, or to alternatively be used as therapies for cardiac repair approaches. Most of the recent developments in cardiac tissue engineering have been made possible by important advances regarding the efficient generation of cardiac cells from pluripotent stem cells and the use of novel biomaterials and microfabrication methods. Different combinations of cells, biomaterials, scaffolds, and geometries are however possible, which results in different types of structures with gradual complexities and abilities to mimic the native cardiac tissue. Here, we intend to cover key aspects of tissue engineering applied to cardiology and the consequent development of cardiac organoids. This review presents various facets of the construction of human cardiac 3D constructs, from the choice of the components to their patterning, the final geometry of generated tissues, and the subsequent readouts and applications to model and treat cardiac diseases.

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“…Therefore, our findings may have important consequences for public health action programs. There is a definite interest in launching specific action plans for cardiomyopathies in order to improve early diagnosis, therapeutics, and prevention of event recurrence [4]. The better identification of these patients is especially important in the context of recent progress in prognosis stratification [28][29][30], along with the development of recent innovative therapeutics based on new small molecules or gene-editing approaches [31].…”

Section: Discussionmentioning

confidence: 99%

“…Cardiomyopathies are defined as myocardial diseases with abnormal structure and function in the absence of coronary disease, hypertension, valvular heart disease, or congenital malformation sufficient to explain them [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

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The Public Health Burden of Cardiomyopathies: Insights from a Nationwide Inpatient Study

Lannou

Mansencal

Couchoud

et al. 2020

JCM

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Cardiomyopathies are responsible for heart failure and sudden cardiac death, but epidemiological data are scarce and the public health burden may be underestimated. We studied aggregating data from all public or private hospitals in France. Patients were categorized from relevant ICD-10 codes into dilated, hypertrophic, restrictive, or other cardiomyopathies (DCM, HCM, RCM, or OCM, respectively). Between 2008 and 2015, a total of 326,461 distinct patients had cardiomyopathy-related hospitalizations. The hospital-based prevalence of cardiomyopathy was 809 per million inhabitants (PMI) per year, including 428 PMI for DCM, 101 PMI for HCM, 26 PMI for RCM, and 253 PMI for OCM. Patients with cardiomyopathies accounted for 51% of all heart transplants, 33% of defibrillator implantations, 38% of mechanical circulatory supports, and 11.3% of hospitalizations for heart failure. In patients less than 40 years of age, these figures were 71%, 51%, 63%, and 23%, respectively. Over 2008–2015 and considering all cardiomyopathies, there was a significant increase for heart transplant (average annual percentage change, AAPC: +3.86%, p = 0.0015) and for defibrillator implantation (AAPC: +6.98%, p < 0.0001), and a significant decrease of in-hospital mortality (AAPC: −4.7%, p = 0.0002). This nationwide study shows that cardiomyopathies constitute an important cause of hospitalization, with increasing invasive therapeutic procedures and decreasing mortality.

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Inherited cardiomyopathies

Cited by 16 publications

References 63 publications

Cardiometabolism as an Interlocking Puzzle between the Healthy and Diseased Heart: New Frontiers in Therapeutic Applications

Cardiometabolism as an Interlocking Puzzle between the Healthy and Diseased Heart: New Frontiers in Therapeutic Applications

Cardiac Organoids to Model and Heal Heart Failure and Cardiomyopathies

The Public Health Burden of Cardiomyopathies: Insights from a Nationwide Inpatient Study

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