Takotsubo cardiomyopathy in siblings

Ikutomi, Masayasu; Yamasaki, Masao; Matsusita, Masashiro; Watari, Yuji; Arashi, Hiroyuki; Endo, Goro; Yamaguchi, Junichi; Ohnishi, Satoshi

doi:10.1007/s00380-013-0345-y

Cited by 34 publications

(20 citation statements)

References 9 publications

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“…Although the syndrome is not considered a primary genetic cardiomyopathy, a number of studies have explored the possibility of genetic risk factors. A genetic predisposition has been suggested based on the few familial Takotsubo syndrome cases described . Conflicting results have been published regarding the presence or absence of functional polymorphisms in relevant candidate genes, such as α1‐, β1‐, and β2‐adrenergic receptors, GRK5 , and oestrogen receptors.…”

Section: Genetic Susceptibilitymentioning

confidence: 99%

Current state of knowledge on Takotsubo syndrome: a Position Statement from the Taskforce on Takotsubo Syndrome of the Heart Failure Association of the European Society of Cardiology

Lyon

Bossone

Schneider

et al. 2015

European J of Heart Fail

938

1,157

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Takotsubo syndrome is an acute reversible heart failure syndrome that is increasingly recognized in modern cardiology practice. This Position Statement from the European Society of Cardiology Heart Failure Association provides a comprehensive review of the various clinical and pathophysiological facets of Takotsubo syndrome, including nomenclature, definition, and diagnosis, primary and secondary clinical subtypes, anatomical variants, triggers, epidemiology, pathophysiology, clinical presentation, complications, prognosis, clinical investigations, and treatment approaches. Novel structured approaches to diagnosis, risk stratification, and management are presented, with new algorithms to aid decision‐making by practising clinicians. These also cover more complex areas (e.g. uncertain diagnosis and delayed presentation) and the management of complex cases with ongoing symptoms after recovery, recurrent episodes, or spontaneous presentation. The unmet needs and future directions for research in this syndrome are also discussed.

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Section: Genetic Susceptibilitymentioning

confidence: 99%

Current state of knowledge on Takotsubo syndrome: a Position Statement from the Taskforce on Takotsubo Syndrome of the Heart Failure Association of the European Society of Cardiology

Lyon

Bossone

Schneider

et al. 2015

European J of Heart Fail

938

1,157

View full text Add to dashboard Cite

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“…The etiology of this disease is unknown. Although a genetic contribution to this disease has been speculated, 42–45 no such definitive fingerprint has been described. Clinically, SIC is challenging to treat in the critically ill patient.…”

Section: Discussionmentioning

confidence: 99%

Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy

et al. 2016

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Background Stress-induced cardiomyopathy (SIC) is a poorly understood condition associated with periods of emotional and physical stress. The clinical approaches for management of SIC are supportive and reactive to patient symptoms. Objective To utilize next-generation exome sequencing to define genetic variation associated with, and potentially responsible for, this disease. Methods We performed exome sequencing of 7 white female patients with SIC. Filtering of the identified variants was performed to limit our investigation to those sequences that passed quality control criteria, were rare or novel, were determined algorithmically to have high impact on the associated protein, and were within regions of high species conservation. All variants were verified using Sanger sequencing. Results Exome-sequencing analysis revealed that each patient carried predicted deleterious variants affecting known cardiomyopathy genes. In each case, the identified variant was either not previously found in public human genome data or was previously annotated in a database of clinical variants associated with cardiac dysfunction. Conclusion Patients with SIC harbor deleterious mutations in established cardiomyopathy genes at a level higher than healthy controls. We hypothesize that patients at highest risk for SIC likely live in a compensated state of cardiac dysfunction that manifests clinically only after the myocardium is stressed. In short, we propose that SIC is another example of an occult cardiomyopathy with a distinct physiological trigger and suggest that alternative clinical approaches to these patients may be warranted.

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“…Znaczenie wyrzutu katecholamin potwierdza opis przypadku wtórnego zespołu takotsubo u 59-letniego mężczyzny z pheochromocytoma [6]. Niekiedy sugeruje się genetyczną skłonność, o czym może świadczyć wystąpienie tego zespołu u rodzeństwa [7].…”

Section: Wstępunclassified

Kardiomiopatia takotsubo u dziecka — opis przypadku

Kutek

Kusa

2018

Folia Cardiologica

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StreszczenieW artykule przedstawiono przypadek chłopca w wieku 14 lat, który został przyjęty na oddział kardiologii dziecięcej z objawami ostrego zespołu wieńcowego. Na podstawie przeprowadzonej diagnostyki rozpoznano kardiomiopatię takotsubo. Objawy choroby wystąpiły po urazie klatki piersiowej, do którego doszło podczas zawodów sportowych (pacjent intensywnie trenuje taekwondo). Chłopiec przeżywał bardzo silny stres związany z rywalizacją. W wykonanej angiotomografii komputerowej wykluczono obecność patologii wieńcowych, natomiast w badaniu echokardiograficznym stwierdzono typowy obraz towarzyszący kardiomiopatii takotsubo. Podczas hospitalizacji obserwowano szybką poprawę stanu ogól-nego z normalizacją geometrii lewej komory i poprawą kurczliwości. W rodzimej literaturze autorzy nie znaleźli opisu kardiomiopatii takotsubo w populacji dziecięcej.Słowa kluczowe: kardiomiopatia takotsubo, ostry zespół wieńcowy, katecholaminy Cardiologica 2018; 13, 3: 264-268 Folia

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Takotsubo cardiomyopathy in siblings

Cited by 34 publications

References 9 publications

Current state of knowledge on Takotsubo syndrome: a Position Statement from the Taskforce on Takotsubo Syndrome of the Heart Failure Association of the European Society of Cardiology

Current state of knowledge on Takotsubo syndrome: a Position Statement from the Taskforce on Takotsubo Syndrome of the Heart Failure Association of the European Society of Cardiology

Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy

Kardiomiopatia takotsubo u dziecka — opis przypadku

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