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

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• RASopathies are a group of genetic disorders caused by mutations in the RAS-MAPK signaling pathway.
• These conditions are associated with a wide range of clinical manifestations, including cardiac defects, developmental delays, and increased cancer risk.
• Understanding the morbidity and mortality patterns in RASopathies is crucial for improving patient management and outcomes.

Purpose of the Study:

• To provide a comprehensive description of morbidity and mortality in patients with RASopathies.
• To analyze specific cardiac defects, mortality rates, and survival rates in distinct RASopathy subgroups.
• To report statistical highlights from multivariable regression analysis assessing the impact of gene mutations on prognosis.

Main Methods:

• Multicentric, observational, retrospective data analysis and collection.
• Review of clinical records from 371 patients with confirmed molecular diagnosis of RASopathy.
• Analysis of cardiac defects, crude mortality, survival rates, and outcomes in specific patient cohorts.

Main Results:

• Detailed analysis of cardiac defects including hypertrophic cardiomyopathy (HCM), biventricular obstruction, and pulmonary stenosis.
• Assessment of crude mortality, cumulative survival, and restricted estimated mean survival.
• Statistical highlights from multivariable regression analysis on the impact of mutated genes on interventions and prognosis.

Conclusions:

• The study provides critical data on the morbidity and mortality associated with RASopathies.
• Findings highlight the importance of genetic mutations in predicting cardiac defects and overall prognosis.
• This research contributes to a better understanding of RASopathy progression and informs clinical management strategies.