Heterogeneous Phenotype of Long QT Syndrome Caused by the KCNH2-H562R Mutation: Importance of Familial Genetic Testing

Muñoz‐Esparza, Carmen; García-Molina, Esperanza; Salar-Alcaraz, Mariela; Peñafiel-Verdú, Pablo; Sánchez-Muñoz, Juan J.; Sánchez, Juan Martínez; Cabañas-Perianes, Valentín; Chávarri, Mariano Valdés; Alberola, Arcadio García; Gimeno-Blanes, Juan Ramón

doi:10.1016/j.rec.2014.10.022

Cited by 2 publications

(2 citation statements)

References 36 publications

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“…European authors have stated that the most ominous prognoses are associated with two or more risk factors. Amiodarone is used when the IAD is not available or when the patient refuses its implantation [25].…”

Section: Hypertrophic Cardiomyopathy (Hcm)mentioning

confidence: 99%

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Sudden Death in Sports: Case Report and Review of an Ongoing Problem

Caparrós-Hernández¹,

García-Fernández²,

Miró-Vicedo³

et al. 2019

Health

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Background: Both competitive and recreational sports are considered a positive practice that is good for human health and quality of life, so it is difficult to understand how young, energetic and apparently healthy people can die while playing their usual sports. When these events occur in elite athletes during monitored events, they normally receive considerable media attention. Objective: To describe the case of sudden death in a young professional athlete who was successfully aided and resuscitated outside our hospital, and to review the literature about sudden death in sports. Materials and Method: We searched for Sudden Death (according to the International Classification of Diseases (ICD-9 and ICD-10)) in our hospital but found no other relevant cases. We performed a literature search on the state of the art in sudden death (Google Scholar, PubMed, LILACS, Scielo and the Revista Española de Cardiología). Results: Although we observed that the prevalence of sudden death is not very high, it still represents a potentially avoidable event. An adequate medical examination prior to regular sporting practice can decrease the incidence of sudden death in athletes under the age of 35. Data available in the literature support medical checkups that include history-taking, physical examination and electrocardiogram. The findings of this evaluation may also prompt further assessment (electrocardiograph, ergometry). Conclusions: We could not identify standard, obligatory guidelines for screening possible heart diseases causing cardiorespiratory failure and sudden death.

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Section: Hypertrophic Cardiomyopathy (Hcm)mentioning

confidence: 99%

“…LQTS is a heart disease that can be classified within the so-called "channelopa- There is no cure for this disease, and no treatment can restore the QT interval to normal values. However, beta-blockers and/or an IAD (depending on the patient) can help to prevent SD events and notably improve patients' chances for survival [25].…”

Section: Long Qt Syndrome (Lqts)mentioning

confidence: 99%

Sudden Death in Sports: Case Report and Review of an Ongoing Problem

Caparrós-Hernández¹,

García-Fernández²,

Miró-Vicedo³

et al. 2019

Health

View full text Add to dashboard Cite

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Electrical and mechanical stimulation of cardiac cells and tissue constructs

Stoppel

Kaplan

Black

2016

Advanced Drug Delivery Reviews

214

190

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The field of cardiac tissue engineering has made significant strides over the last few decades, highlighted by the development of human cell derived constructs that have shown increasing functional maturity over time, particularly using bioreactor systems to stimulate the constructs. However, the functionality of these tissues is still unable to match that of native cardiac tissue and many of the stem-cell derived cardiomyocytes display an immature, fetal like phenotype. In this review, we seek to elucidate the biological underpinnings of both mechanical and electrical signaling, as identified via studies related to cardiac development and those related to an evaluation of cardiac disease progression. Next, we review the different types of bioreactors developed to individually deliver electrical and mechanical stimulation to cardiomyocytes in vitro in both two and three-dimensional tissue platforms. Reactors and culture conditions that promote functional cardiomyogenesis in vitro are also highlighted. We then cover the more recent work in the development of bioreactors that combine electrical and mechanical stimulation in order to mimic the complex signaling environment present in vivo. We conclude by offering our impressions on the important next steps for physiologically relevant mechanical and electrical stimulation of cardiac cells and engineered tissue in vitro.

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Heterogeneous Phenotype of Long QT Syndrome Caused by the KCNH2-H562R Mutation: Importance of Familial Genetic Testing

Cited by 2 publications

References 36 publications

Sudden Death in Sports: Case Report and Review of an Ongoing Problem

Sudden Death in Sports: Case Report and Review of an Ongoing Problem

Electrical and mechanical stimulation of cardiac cells and tissue constructs

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