Inherited cardiomyopathies—Novel therapies

Leviner, Dror B.; Hochhauser, Edith; Arad, Michael

doi:10.1016/j.pharmthera.2015.08.003

Cited by 16 publications

(12 citation statements)

References 134 publications

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“…The involvement of heterogeneous genetic contribution [4] has hindered the development of pharmaceutical agents and therapies specific to genetic cardiomyopathy [5]. Although next-generation therapies, including gene therapy and cell-based therapy, hold promise for curing this intractable disease [6][7][8][9][10][11], availability of animal models for genetic cardiomyopathy is vital for developing these novel therapies [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy

Matsunari

Honda

Watanabe

et al. 2020

Laboratory Investigation

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Genetic cardiomyopathy is a group of intractable cardiovascular disorders involving heterogeneous genetic contribution. This heterogeneity has hindered the development of life-saving therapies for this serious disease. Genetic mutations in dystrophin and its associated glycoproteins cause cardiomuscular dysfunction. Large animal models incorporating these genetic defects are crucial for developing effective medical treatments, such as tissue regeneration and gene therapy. In the present study, we knocked out the δ-sarcoglycan (δ-SG) gene (SGCD) in domestic pig by using a combination of efficient de novo gene editing and somatic cell nuclear transfer. Loss of δ-SG expression in the SGCD knockout pigs caused a concomitant reduction in the levels of α-, β-, and γ-SG in the cardiac and skeletal sarcolemma, resulting in systolic dysfunction, myocardial tissue degeneration, and sudden death. These animals exhibited symptoms resembling human genetic cardiomyopathy and are thus promising for use in preclinical studies of next-generation therapies.

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Section: Introductionmentioning

confidence: 99%

Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy

Matsunari

Honda

Watanabe

et al. 2020

Laboratory Investigation

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“…There are patients with familial amyloidosis who have responded to novel therapies, such as molecular and drug therapies that target abnormal protein production. However, in most patients diagnosed with familial restrictive cardiomyopathy, the severity of heart failure symptoms and the lack of response to treatment could be indications for cardiac transplantation 20,21 . Furthermore, there are certain patients for whom permanent pacing or left ventricular assist device therapy should be considered.…”

Section: Discussionmentioning

confidence: 99%

A rare case of familial restrictive cardiomyopathy with mutations in MYH7 and ABCC9 genes

Neagoe¹,

Ciobanu²,

Diaconu³

et al. 2019

Discoveries (Craiova)

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Restrictive cardiomyopathy is the least common type of cardiomyopathy, being defined by diastolic dysfunction and often unimpaired systolic function. Restrictive cardiomyopathies can be classified as familial or non-familial. Patients with familial restrictive cardiomyopathy can develop signs and symptoms of this condition anytime from childhood to adulthood. The evolution of the disease is towards signs and symptoms of pulmonary and systemic congestion and, without treatment, there is a fiveyear mortality rate of approximately 30% in these patients. We discuss the case of a 43-year-old patient diagnosed with familial restrictive cardiomyopathy with positive genetic tests for mutations of MYH7 gene and ABCC9 gene, who was first hospitalized in 2011 for palpitations. The echocardiography performed in evolution showed a continuous alteration of right ventricle function, without important differences of left ventricular function. She developed heart failure symptoms six years after diagnosis and she had seven hospitalizations in the past two years, currently with an increasing need of diuretics and persistent hepatic dysfunction. Cardiac transplantation or left ventricular assist device therapy should be considered in patients with severe heart failure symptoms and no longer effective treatment. However, elevated pulmonary vascular resistance excludes the patient from cardiac transplantation.

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“…Pharmacotherapy of RCM is an important initial clinical management approach of RCM targeting the treatment of venous congestion (diuretics) [102], control heart rate (beta-adrenergic blocking agents) [38,43], and prevention of blood clotting and the risk for stroke due to restrictive hemodynamics (anticoagulants) [43]. However, due to poor tolerance for medication [45], the present meta-analysis focused on chronic treatment of RCM using nonpharmacological support.…”

Section: Discussionmentioning

confidence: 99%

“…In the management of RCM, diuretics are used as therapies for venous congestion in pulmonary and systemic circulation [102]. The drugs reduce venous filling pressures causing a decrease in cardiac output and associated signs of fatigue, hypotension and hypoperfusion.…”

Section: Diureticsmentioning

confidence: 99%

Restrictive cardiomyopathy: A review of literature on clinical status and meta-analysis of diagnosis and clinical management

Albakri¹

2018

Pediatr Dimensions

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Restrictive cardiomyopathy is a myocardial disorder characterized by restrictive ventricular filling. It represents one of the three phenotypes originally classified by the World Health Organization besides dilated and hypertrophic cardiomyopathies. Of the three, it is the least common phenotype but has an ominous prognosis with the highest recorded rates of sudden cardiac death. Clinical trials investigating RCM have had varied findings. This is attributable to the current classification systems of cardiomyopathy based on morphological and structural alterations rather than etiologic-based. The classification has created etiological heterogeneity requiring a combination of methods for a confirmatory diagnosis as well as complicating clinical management methods, which lacks standardized guidelines and largely relies on the standard heart failure therapy. Thus, the present review discussed current research evidence to produce a comprehensive understanding of the clinical status of RCM, including its diagnosis and clinical management.

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Inherited cardiomyopathies—Novel therapies

Cited by 16 publications

References 134 publications

Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy

Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy

A rare case of familial restrictive cardiomyopathy with mutations in MYH7 and ABCC9 genes

Restrictive cardiomyopathy: A review of literature on clinical status and meta-analysis of diagnosis and clinical management

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