A novel Troponin I mutation associated with severe restrictive cardiomyopathy—a case report of a 27-year-old woman with fatigue

Gerhardt, Teresa; Monserrat, Lorenzo; Landmesser, Ulf; Poller, Wolfgang

doi:10.1093/ehjcr/ytac053

“…Despite multiple obstacles to unequivocal detection of myocardial inflammation, it has been long known that myocardial inflammation [3][4][5][6][7][8][9][10][11][12] occurs in association with multiple types of 'genetic' [13][14][15][16][17][18] and 'non-genetic' [19,20] cardiomyopathies. The possible therapeutic potential of immunomodulation has been addressed in this context [21][22][23], but this issue remains unsolved so far.…”

Section: Novel Insights Into the Role Of Inflammation In Human Cardio...mentioning

confidence: 99%

Innate Immunity in Cardiovascular Diseases – Identification of Novel Molecular Players and Targets

Poller¹,

Heidecker²,

Ammirati³

et al. 2022

Preprint

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During the past few years unexpected developments have driven studies in the field of clinical immunology. One driver of immense impact was the outbreak of a pandemic caused by the novel virus SARS-CoV-2. Excellent recent reviews address diverse aspects of immunological re-search into cardiovascular diseases. Here, we specifically focus on selected studies taking ad-vantage of advanced state-of-the-art molecular genetic methods ranging from genome-wide epi/transcriptome mapping and variant scanning to optogenetics and chemogenetics. First, we discuss emerging clinical relevance of advanced diagnostics for cardiovascular diseases - includ-ing those associated with COVID-19 - with a focus on the role of inflammation in cardiomyopa-thies and arrhythmias. Second, we consider newly identified immunological interactions at or-gan and systems level which affect cardiovascular pathogenesis. Thus, studies into immune in-fluences arising from the intestinal system are moving towards therapeutic exploitation. Fur-ther, powerful new research tools have enabled novel insight into brain – immune system inter-actions at unprecedented resolution. This latter line of investigation emphasizes the strength of influence of emotional stress - acting through defined brain regions - upon viral and cardiovas-cular disorders. Several challenges need to be overcome before the full impact of these far-reaching new findings will hit the clinical arena.

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“…Despite multiple obstacles to unequivocal detection of myocardial inflammation, it has been long known that myocardial inflammation [3][4][5][6][7][8][9][10][11][12] occurs in association with multiple types of 'genetic' [13][14][15][16][17] and 'non-genetic' [18,19] cardiomyopathies. Fig.…”

Section: Novel Insights Into the Role Of Inflammation In Human Cardio...mentioning

confidence: 99%

Innate Immunity in Cardiovascular Diseases – Identification of Novel Molecular Players and Targets

Poller¹,

Heidecker²,

Ammirati³

et al. 2022

Preprint

0

View full text Add to dashboard Cite

During the past few years unexpected developments have driven studies in the field of clinical immunology. One driver of immense impact was the outbreak of a pandemic caused by the novel virus SARS-CoV-2. Excellent recent reviews address diverse aspects of immunological re-search into cardiovascular diseases. Here, we specifically focus on selected studies taking ad-vantage of advanced state-of-the-art molecular genetic methods ranging from genome-wide epi/transcriptome mapping and variant scanning to optogenetics and chemogenetics. First, we discuss emerging clinical relevance of advanced diagnostics for cardiovascular diseases - includ-ing those associated with COVID-19 - with a focus on the role of inflammation in cardiomyopa-thies and arrhythmias. Second, we consider newly identified immunological interactions at or-gan and systems level which affect cardiovascular pathogenesis. Thus, studies into immune in-fluences arising from the intestinal system are moving towards therapeutic exploitation. Fur-ther, powerful new research tools have enabled novel insight into brain – immune system inter-actions at unprecedented resolution. This latter line of investigation emphasizes the strength of influence of emotional stress - acting through defined brain regions - upon viral and cardiovas-cular disorders. Several challenges need to be overcome before the full impact of these far-reaching new findings will hit the clinical arena.

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Genetic Insights into Primary Restrictive Cardiomyopathy

Brodehl

¹

,

Gerull²

2022

JCM

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Restrictive cardiomyopathy is a rare cardiac disease causing severe diastolic dysfunction, ventricular stiffness and dilated atria. In consequence, it induces heart failure often with preserved ejection fraction and is associated with a high mortality. Since it is a poor clinical prognosis, patients with restrictive cardiomyopathy frequently require heart transplantation. Genetic as well as non-genetic factors contribute to restrictive cardiomyopathy and a significant portion of cases are of unknown etiology. However, the genetic forms of restrictive cardiomyopathy and the involved molecular pathomechanisms are only partially understood. In this review, we summarize the current knowledge about primary genetic restrictive cardiomyopathy and describe its genetic landscape, which might be of interest for geneticists as well as for cardiologists.

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A novel Troponin I mutation associated with severe restrictive cardiomyopathy—a case report of a 27-year-old woman with fatigue

Cited by 4 publications

References 20 publications

Innate Immunity in Cardiovascular Diseases – Identification of Novel Molecular Players and Targets

Innate Immunity in Cardiovascular Diseases – Identification of Novel Molecular Players and Targets

Innate Immunity in Cardiovascular Diseases – Identification of Novel Molecular Players and Targets

Genetic Insights into Primary Restrictive Cardiomyopathy

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