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Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

ABSTRACT: A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Cardiac defects, crude mortality, survival rate of patients with 1) hypertrophic cardiomyopathy (HCM) and age <2 years or young adults; 2) individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations; 3) biventricular obstruction and PTPN11 mutations; 4) Costello syndrome or cardiofaciocutaneous syndrome were analysed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. In particular, with this Data In Brief (DIB) paper, the authors aim to report specific statistic highlights of the multivariable regression analysis that was used to assess the impact of mutated genes on number of interventions and overall prognosis.

SUBMITTER: Calcagni G

PROVIDER: S-EPMC5847490 | biostudies-other | 2018 Feb

REPOSITORIES: biostudies-other

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Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

Calcagni Giulio G Limongelli Giuseppe G D'Ambrosio Angelo A Gesualdo Francesco F Digilio Maria Cristina MC Baban Anwar A Albanese Sonia B SB Versacci Paolo P De Luca Enrica E Ferrero Giovanni B GB Baldassarre Giuseppina G Agnoletti Gabriella G Banaudi Elena E Marek Jan J Kaski Juan P JP Tuo Giulia G Russo Maria Giovanna MG Pacileo Giuseppe G Milanesi Ornella O Messina Daniela D Marasini Maurizio M Cairello Francesca F Formigari Roberto R Brighenti Maurizio M Dallapiccola Bruno B Tartaglia Marco M Marino Bruno B

Data in brief 20171202

A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirm ...[more]

PMID: 29541661

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Project description:BackgroundRecently, studies have examined the underlying patient and practice factors for missed appointments, but less is known about the impact on patient health. People with one or more long-term conditions who fail to attend appointments may be at risk of premature death. This is the first study to examine the effect of missed primary healthcare appointments on all-cause mortality in those with long-term mental and physical health conditions.MethodsWe used a large, nationwide retrospective cohort (n = 824,374) extracted from routinely collected general practice data across Scotland over a 3-year period from September 2013 until September 2016. This data encompasses appointment history for approximately 15% of the Scottish population, and was linked to Scottish deaths records for patients who had died within a 16-month follow-up period. We generated appointment attendance history, number of long-term conditions and prescriptions data for patients. These factors were used in negative binomial and Cox's proportional hazards modelling to examine the risk of missing appointments and all-cause mortality.ResultsPatients with a greater number of long-term conditions had an increased risk of missing general practice appointments despite controlling for number of appointments made, particularly among patients with mental health conditions. These patients were at significantly greater risk of all-cause mortality, and showed a dose-based response with increasing number of missed appointments. Patients with long-term mental health conditions who missed more than two appointments per year had a greater than 8-fold increase in risk of all-cause mortality compared with those who missed no appointments. These patients died prematurely, commonly from non-natural external factors such as suicide.ConclusionsMissed appointments represent a significant risk marker for all-cause mortality, particularly in patients with mental health conditions. For these patients, existing primary healthcare appointment systems are ineffective. Future interventions should be developed with a particular focus on increasing attendance by these patients.

Dataset Information

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

Publications

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

Similar Datasets

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