Data in Brief (Feb 2018)
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
- Giulio Calcagni,
- Giuseppe Limongelli,
- Angelo D'Ambrosio,
- Francesco Gesualdo,
- Maria Cristina Digilio,
- Anwar Baban,
- Sonia B. Albanese,
- Paolo Versacci,
- Enrica De Luca,
- Giovanni B. Ferrero,
- Giuseppina Baldassarre,
- Gabriella Agnoletti,
- Elena Banaudi,
- Jan Marek,
- Juan P. Kaski,
- Giulia Tuo,
- Maria Giovanna Russo,
- Giuseppe Pacileo,
- Ornella Milanesi,
- Daniela Messina,
- Maurizio Marasini,
- Francesca Cairello,
- Roberto Formigari,
- Maurizio Brighenti,
- Bruno Dallapiccola,
- Marco Tartaglia,
- Bruno Marino
Affiliations
- Giulio Calcagni
- Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Correspondence to: Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children’s Hospital, IRCCS Piazza Sant’Onofrio 4 00165, Rome, Italy.
- Giuseppe Limongelli
- Cardiologia SUN, Monaldi Hospital, II University of Naples, Naples, Italy
- Angelo D'Ambrosio
- Multifactorial Disease and Complex Phenotype Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Francesco Gesualdo
- Multifactorial Disease and Complex Phenotype Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Maria Cristina Digilio
- Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Anwar Baban
- Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Sonia B. Albanese
- Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Paolo Versacci
- Pediatric Cardiology, Department of Pediatrics, Sapienza University, Rome, Italy
- Enrica De Luca
- Pediatric Cardiology, Department of Pediatrics, Sapienza University, Rome, Italy
- Giovanni B. Ferrero
- Department of Pediatric and Public Health Sciences, Città della Salute e della Scienza, University of Turin, Italy
- Giuseppina Baldassarre
- Department of Pediatric and Public Health Sciences, Città della Salute e della Scienza, University of Turin, Italy
- Gabriella Agnoletti
- Department of Pediatric and Public Health Sciences, Città della Salute e della Scienza, University of Turin, Italy
- Elena Banaudi
- Department of Pediatric and Public Health Sciences, Città della Salute e della Scienza, University of Turin, Italy
- Jan Marek
- Cardiorespiratory Unit, Great Ormond Street Hospital for Children, London, UK; UCL Institute of Cardiovascular Science, London, UK
- Juan P. Kaski
- Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UK; UCL Institute of Cardiovascular Science, London, UK
- Giulia Tuo
- Cardiorespiratory Unit, Great Ormond Street Hospital for Children, London, UK; UCL Institute of Cardiovascular Science, London, UK
- Maria Giovanna Russo
- Cardiologia SUN, Monaldi Hospital, II University of Naples, Naples, Italy
- Giuseppe Pacileo
- Cardiologia SUN, Monaldi Hospital, II University of Naples, Naples, Italy
- Ornella Milanesi
- Department of Woman and Child's Health, Pediatric Cardiology, University of Padova, Padua, Italy
- Daniela Messina
- Department of Woman and Child's Health, Pediatric Cardiology, University of Padova, Padua, Italy
- Maurizio Marasini
- Cardiovascular Department, Giannina Gaslini Institute, Genoa, Italy
- Francesca Cairello
- Cardiovascular Department, Giannina Gaslini Institute, Genoa, Italy
- Roberto Formigari
- Cardiology and Cardiac Surgery, Sant’Orsola Malpighi Hospital, Bologna, Italy
- Maurizio Brighenti
- Cardiology and Cardiac Surgery, Sant’Orsola Malpighi Hospital, Bologna, Italy
- Bruno Dallapiccola
- Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Marco Tartaglia
- Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Bruno Marino
- Pediatric Cardiology, Department of Pediatrics, Sapienza University, Rome, Italy
- Journal volume & issue
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Vol. 16
pp. 649 – 654
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.
