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   Articles with "inherited cardiac" as a keyword



Cardiopulmonary Fitness and Physical Activity Among Children and Adolescents With Inherited Cardiac Disease

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recommendations! Published in 2025 at "JAMA Network Open"

DOI: 10.1001/jamanetworkopen.2024.61795

Abstract: Key Points Question What are the levels of cardiopulmonary fitness among children and adolescents with inherited cardiac disease compared with healthy controls and the factors associated with maximum oxygen uptake (V̇o2max) in young patients? Findings… read more here.

Keywords: cardiopulmonary fitness; inherited cardiac; children adolescents; cardiac disease ... See more keywords
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Fatal intoxications and inherited cardiac disorders in the young: where to draw the line?

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recommendations! Published in 2025 at "International Journal of Legal Medicine"

DOI: 10.1007/s00414-025-03439-9

Abstract: Sudden cardiac death represents a significant public health concern and is one of the leading causes of early mortality worldwide. The escalating use of illicit drugs, approximately 269 million people in 2018, represents a growing… read more here.

Keywords: inherited cardiac; death; sudden death; fatal intoxications ... See more keywords

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

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recommendations! Published in 2019 at "European Journal of Human Genetics"

DOI: 10.1038/s41431-019-0377-6

Abstract: Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of… read more here.

Keywords: reclassification; cardiac disease; variant reclassification; inherited cardiac ... See more keywords
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Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

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recommendations! Published in 2020 at "Genetics in Medicine"

DOI: 10.1038/s41436-020-00972-3

Abstract: Purpose Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools are imprecise and ignore important parameters defining gene–disease relationships, e.g., distinct consequences of… read more here.

Keywords: disease specific; specific variant; cardiac conditions; disease ... See more keywords

Patient & public involvement for inherited cardiac conditions

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recommendations! Published in 2021 at "European Journal of Cardiovascular Nursing"

DOI: 10.1093/eurjcn/zvab060.086

Abstract: National Institute for Health Research King"s Health Partners Patient & Public Involvement for Inherited Cardiac Conditions (PPIICC) group Inherited Cardiac Conditions (ICCs) affect up to 1:200 of the population and is the leading cause of… read more here.

Keywords: intervention; pisicc; cardiac conditions; group ... See more keywords

Family screening in inherited cardiac conditions: predicting likelihood of a diagnosis

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recommendations! Published in 2023 at "European Journal of Preventive Cardiology"

DOI: 10.1093/eurjpc/zwad125.006

Abstract: Type of funding sources: Private grant(s) and/or Sponsorship. Main funding source(s): Cardiovascular Research Scholarship awarded by 'Research, Innovation and Development Trust (University of Malta)', kindly donated by Beating Hearts Malta. Scholarship awarded by Tertiary Education… read more here.

Keywords: family; likelihood diagnosis; diagnosis; family screening ... See more keywords

A 10-year follow-up study on diagnostic yield in families of sudden cardiac death patients

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recommendations! Published in 2025 at "Europace"

DOI: 10.1093/europace/euaf085.703

Abstract: Abstract Background Sudden cardiac death (SCD) accounts for 10-20% of all deaths in Western countries, and inherited cardiac diseases account for a significant proportion of SCD. Despite being a major public health issue with a… read more here.

Keywords: inherited cardiac; diagnostic yield; scd; study ... See more keywords

A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial

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recommendations! Published in 2019 at "BMJ Open"

DOI: 10.1136/bmjopen-2018-025660

Abstract: Introduction In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of… read more here.

Keywords: randomised controlled; trial; controlled trial; inherited cardiac ... See more keywords

22 Traffic lights system a tool for paediatric inherited cardiac conditions patients produced by nurse specialists for patients and their families

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recommendations! Published in 2018 at "Heart"

DOI: 10.1136/heartjnl-2017-bcca.22

Abstract: Purpose NHS England (2016) recognises that Early Warning Scores (EWS) aid identification of children at risk of clinical deterioration. NICE (2007) have strongly advised that EWS should be utilised for all inpatients. However, there is… read more here.

Keywords: traffic; system; cardiac conditions; tool ... See more keywords
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Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases

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recommendations! Published in 2024 at "Circulation. Genomic and Precision Medicine"

DOI: 10.1161/circgen.123.004416

Abstract: BACKGROUND: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Association/American College of… read more here.

Keywords: inherited cardiac; preimplantation genetic; multidisciplinary team; model ... See more keywords

iPSC-Derived Cardiomyocytes in Inherited Cardiac Arrhythmias: Pathomechanistic Discovery and Drug Development

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recommendations! Published in 2023 at "Biomedicines"

DOI: 10.3390/biomedicines11020334

Abstract: With the discovery of induced pluripotent stem cell (iPSCs) a wide range of cell types, including iPSC-derived cardiomyocytes (iPSC-CM), can now be generated from an unlimited source of somatic cells. These iPSC-CM are used for… read more here.

Keywords: ipsc derived; cardiac arrhythmias; inherited cardiac; derived cardiomyocytes ... See more keywords