About this Research Topic
The mammalian heart is a complex, 4 chambered organ with significant structural, electrical, anatomical, cellular and functional complexity and is one of the earliest to form in development. Numerous inherited disorders affect the heart, reflecting the great number of genes that contribute to its development and function. Those that affect the heart muscle primarily are considered inherited cardiomyopathies. For patients who suffer from these disorders, there is a general lack of targeted therapy and pathogenesis is poorly understood.
The relationship between gene mutation and gene, organellar, cellular, tissue and organ dysfunction in the pathogenesis of inherited cardiomyopathies is often elusive. Many disorders affect the structure and function of the heart muscle directly, through effects on sarcomere or cytoskeletal proteins, while others affect cellular energetics or signaling. Even in cases where the suspected pathogenic mechanisms are understood to some degree, there are often other manifestations of these disorders that are not easily explained by current hypotheses. The purpose of this special topic is to highlight current research into the pathogenesis and treatment of these disorders, with an emphasis on novel mechanisms that may guide future targeted therapy.
We welcome articles describing the pathogenetic mechanisms underlying human inherited cardiomyopathies and studies that delineate and test potential therapeutic strategies. Studies based on a wide variety of model systems including model organisms, pluripotent stem cells and human tissue are all relevant. Studies on the cardiovascular manifestations of genetic disorders with multiorgan involvement are also encouraged. Relevant disorders include but are not limited to hypertrophic cardiomyopathy, familial dilated cardiomyopathy, Barth Syndrome, Freidreich's Ataxia, Danon Disease, Fabry Disease, Rasopathies, arrhythmogenic right ventricular cardiomyopathy, Noonan's Syndrome, cardio-facio cutaneous syndrome. Presubmission inquiries are welcome.
Dr. Chin is the founder, CEO and equity shareholder of TransCellular Therapeutics, a company developing an enzyme replacement therapy for Barth Syndrome.
The relationship between gene mutation and gene, organellar, cellular, tissue and organ dysfunction in the pathogenesis of inherited cardiomyopathies is often elusive. Many disorders affect the structure and function of the heart muscle directly, through effects on sarcomere or cytoskeletal proteins, while others affect cellular energetics or signaling. Even in cases where the suspected pathogenic mechanisms are understood to some degree, there are often other manifestations of these disorders that are not easily explained by current hypotheses. The purpose of this special topic is to highlight current research into the pathogenesis and treatment of these disorders, with an emphasis on novel mechanisms that may guide future targeted therapy.
We welcome articles describing the pathogenetic mechanisms underlying human inherited cardiomyopathies and studies that delineate and test potential therapeutic strategies. Studies based on a wide variety of model systems including model organisms, pluripotent stem cells and human tissue are all relevant. Studies on the cardiovascular manifestations of genetic disorders with multiorgan involvement are also encouraged. Relevant disorders include but are not limited to hypertrophic cardiomyopathy, familial dilated cardiomyopathy, Barth Syndrome, Freidreich's Ataxia, Danon Disease, Fabry Disease, Rasopathies, arrhythmogenic right ventricular cardiomyopathy, Noonan's Syndrome, cardio-facio cutaneous syndrome. Presubmission inquiries are welcome.
Dr. Chin is the founder, CEO and equity shareholder of TransCellular Therapeutics, a company developing an enzyme replacement therapy for Barth Syndrome.
Keywords: Inherited Cardiomyopathy, genetic disorder, diatric heart failure, sudden cardiac death, cardiac hypertrophy, cardiomyopathy, hypertrophic cardiomyopathy, familial dilated cardiomyopathy
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