Takotsubo as Initial Manifestation of Non-Myopathic Cardiomyopathy Due to the Titin Variant c.1489G &gt; T

Keller, Hans; Neuhold, Ulrike; Weidinger, Franz; Gatterer, Edmund; Stöllberger, Claudia; Huber, Klaus; Finsterer, Josef

doi:10.3390/medicines5030080

Cited by 7 publications

(3 citation statements)

References 14 publications

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“…Two years later a NGS analysis was conducted in a TTS patient showing clinical signs of an unrecognized genetic cardiomyopathy leading to the discovery of a heterozygous mutation in exon 9 of the TTN gene: c.1489G > T (p. E497X) [ 49 ].…”

Section: Resultsmentioning

confidence: 99%

Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review

Ferradini

Vacca

Belmonte

et al. 2021

IJMS

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Takotsubo syndrome (TTS), recognized as stress’s cardiomyopathy, or as left ventricular apical balloon syndrome in recent years, is a rare pathology, described for the first time by Japanese researchers in 1990. TTS is characterized by an interindividual heterogeneity in onset and progression, and by strong predominance in postmenopausal women. The clear causes of these TTS features are uncertain, given the limited understanding of this intriguing syndrome until now. However, the increasing frequency of TTS cases in recent years, and particularly correlated to the SARS-CoV-2 pandemic, leads us to the imperative necessity both of a complete knowledge of TTS pathophysiology for identifying biomarkers facilitating its management, and of targets for specific and effective treatments. The suspect of a genetic basis in TTS pathogenesis has been evidenced. Accordingly, familial forms of TTS have been described. However, a systematic and comprehensive characterization of the genetic or epigenetic factors significantly associated with TTS is lacking. Thus, we here conducted a systematic review of the literature before June 2021, to contribute to the identification of potential genetic and epigenetic factors associated with TTS. Interesting data were evidenced, but few in number and with diverse limitations. Consequently, we concluded that further work is needed to address the gaps discussed, and clear evidence may arrive by using multi-omics investigations.

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Section: Resultsmentioning

confidence: 99%

Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review

Ferradini

Vacca

Belmonte

et al. 2021

IJMS

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show abstract

“…Keller and co-workers, in 2018, presented a patient with TTS having the initial manifestation of a hitherto unrecognized genetic cardiomyopathy [39]. Upon genetic work-up by means of a gene panel, the heterozygous mutation c.1489G > T (p. E497X) in exon 9 of the TTN gene was detected and made responsible for the phenotype.…”

Section: Sequencing Of Takotsubo Cohortmentioning

confidence: 99%

Genetic and Epigenetic Factors of Takotsubo Syndrome: a Systematic Review

Ferradini¹,

Vacca²,

Belmonte³

et al. 2021

Preprint

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Takotsubo syndrome (TTS), recognized as stress’s cardiomyopathy, or better as left ventricular apical balloon syndrome in the recent years, is a rare pathology, described for the first time by Japanese researchers in 1990. TTS is characterized by an interindividual heterogeneity in onset and progression, and by the strong predominance in postmenopausal women. The clear causes of these TTS features are uncertain, given the reduced understanding of this intriguing syndrome until now. However, the increasing frequency of TTS cases in the last years, and particularly correlated to SARS-CoV-2 pandemic, leads us to imperative necessity both of a complete knowledge of TTS pathophysiology for identifying biomarkers facilitating its management, and targets for specific and effective treatments. The suspect of a genetic basis in TTS pathogenesis has been evidenced. Accordingly, familial form of TTS has been described. But a systematic and comprehensive characterization of the genetic or epigenetic factors significantly associated with TTS is lacking. Thus, we, here, conducted a systematic review of literature before June 2021, to contribute to identify potential genetic and epigenetic factors associated with TTS. Interesting data were evidenced, but of reduced number and with diverse limitations. Consequently, we concluded further work is needed to address the gaps discussed, and probably a clear evidence may arrive using multi-omics investigations.

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“…Омега-3 также улучшает функцию мозга, помогает снизить уровень тревожности и депрессии. Указанные жирные кислоты играют важную роль в развитии ребенка, улучшают зрение и когнитивные функции [1,2].…”

unclassified

Исследования По Технологии Эмульсионного Соуса Повышенной Биологической Ценности

Миленький¹,

Агафонова²

2023

Vestn. molod. nauki

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Проведены маркетинговые исследования по обоснованию актуальности проектирования нового вида эмульсионного соуса для профилактики заболеваний, связанных с сердечно-сосудистой системой, обогащенного рыбным жиром, извлеченным из лососевых рыб, соевым лецитином и морковным пюре. Исследовано влияние морковного пюре и рыбного жира на органолептические и структурно-механические свойства эмульсионного соуса, проведено математическое моделирование с целью оптимизации рецептуры по вводимым ингредиентам – рыбному жиру и морковному пюре. В лабораторных исследованиях установлен химический состав готового соуса, его физико-химические и органолептические показатели качества

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Takotsubo as Initial Manifestation of Non-Myopathic Cardiomyopathy Due to the Titin Variant c.1489G > T

Cited by 7 publications

References 14 publications

Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review

Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review

Genetic and Epigenetic Factors of Takotsubo Syndrome: a Systematic Review

Исследования По Технологии Эмульсионного Соуса Повышенной Биологической Ценности

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