Premium
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study
Author(s) -
Calcagni Giulio,
Gagliostro Giulia,
Limongelli Giuseppe,
Unolt Marta,
De Luca Enrica,
Digilio Maria C.,
Baban Anwar,
Albanese Sonia B.,
Ferrero Giovanni B.,
Baldassarre Giuseppina,
Agnoletti Gabriella,
Banaudi Elena,
Marek Jan,
Kaski Juan P.,
Tuo Giulia,
Marasini Maurizio,
Cairello Francesca,
Madrigali Andrea,
Pacileo Giuseppe,
Russo Maria G.,
Milanesi Ornella,
Formigari Roberto,
Brighenti Maurizio,
Ragni Luca,
Donti Andrea,
Drago Fabrizio,
Dallapiccola Bruno,
Tartaglia Marco,
Marino Bruno,
Versacci Paolo
Publication year - 2020
Publication title -
birth defects research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.845
H-Index - 17
ISSN - 2472-1727
DOI - 10.1002/bdr2.1670
Subject(s) - medicine , noonan syndrome , cardiology , hypertrophic cardiomyopathy , costello syndrome , bicuspid aortic valve , stenosis , surgery , colorectal cancer , cancer , kras
Background RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary valve stenosis and hypertrophic cardiomyopathy) have been reported. Nevertheless, also Atypical Cardiac Defects (ACDs) are described. The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies. Methods A retrospective, multicentric observational study (CArdiac Rasopathy NETwork—CARNET study) was carried out. Clinical, surgical, and genetic data of the patients who were followed until December 2019 were collected. Results Forty‐five patients out of 440 followed in CARNET centers had ACDs. Noonan Syndrome (NS), NS Multiple Lentigines (NSML) and CardioFacioCutaneous Syndrome (CFCS) were present in 36, 5 and 4 patients, respectively. Median age at last follow‐up was 20.1 years (range 6.9–47 years). Different ACDs were reported, including mitral and aortic valve dysfunction, ascending and descending aortic arch anomalies, coronary arteries dilation, enlargement of left atrial appendage and isolated pulmonary branches diseases. Five patients (11%) underwent cardiac surgery and one of them underwent a second intervention for mitral valve replacement and severe pericardial effusion. No patients died in our cohort until December 2019. Conclusions Patients with RASopathies present a distinct CHD spectrum. Present data suggest that also ACDs must be carefully investigated for their possible impact on the clinical outcome. A careful longitudinal follow up until the individuals reach an adult age is recommended.