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RASopathies - cardiac manifestations and outcomes in a Tertiary Center Cohort Study
Session:
Sessão de Posters 17 - Genética em Cardiologia 2
Speaker:
Andreia Duarte Constante
Congress:
CPC 2024
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
20. Congenital Heart Disease and Pediatric Cardiology
Subtheme:
20.6 Congenital Heart Disease – Clinical
Session Type:
Cartazes
FP Number:
---
Authors:
Andreia Duarte Constante; Conceição Trigo; Diana Antunes; Fátima Pinto
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-family:"Times New Roman",serif">Introduction and objectives:</span></strong><span style="font-family:"Times New Roman",serif"> RASopathies are a clinical and genetic spectrum of disorders defined by germline mutations in components or regulators of the RAS/MAPK pathway. This work aimed to provide a comprehensive assessment of cardiac manifestations, morbidity, and mortality in a population of individuals with RASopathies in pediatric age.</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-family:"Times New Roman",serif">Methods:</span></strong><span style="font-family:"Times New Roman",serif"> Retrospective analysis conducted on medical records of patients with genetic and/or clinical diagnosis of RASopathies who received care at a Pediatric Cardiology tertiary center over a period of 40 years (1982-2022).</span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-family:"Times New Roman",serif">Results: </span></strong><span style="font-family:"Times New Roman",serif">Th<span style="color:black">irty-nine patients were included, the majority being male (64%). Noonan Syndrome (NS) was identified in 27 patients (69,2%), NS Multiple Lentigines in 4, Cardiofaciocutaneous syndrome in 2, Costello Syndrome and Noonan syndrome-like disorder with loose anagen hair 1 were present in 1 patient each. Four patients had overlap syndrome between Type 1 neurofibromatosis and NS. Pathogenic </span>variants in the PTPN11 gene were the most frequent (17,9%). The median age at the initial evaluation was 3 years (4 days - 18 years), <span style="color:black">and the </span>median follow-up duration was 14 years. Cardiac involvement was present in 84,6% of patients: the most common was pulmonary valve (PV) stenosis (59%), followed by hypertrophic cardiomyopathy (28,2%) and atrial septal defect (25,6%). PV stenosis was the most frequent cardiac lesion in NS while hypertrophic cardiomyopathy was more prevalent in the other groups. <span style="color:black">During follow-up, 36% underwent cardiac surgery (48% of the procedures included pulmonary valvuloplasty; 19% left ventricular outflow tract relief); 26% underwent interventional cardiac catheterization (9 out 10 for pulmonary valvuloplasty). </span><span style="color:#0f0f0f">Two patients died: one at 8 months, with PV stenosis, biventricular hypertrophy, due to multi-organ failure after pulmonary valvuloplasty and Morrow myomectomy; the second with moderate PV stenosis, at 10 months, due to respiratory insufficiency within the context of a polymalformative syndrome.</span></span></span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><strong><span style="font-family:"Times New Roman",serif">Conclusions:</span></strong><span style="font-family:"Times New Roman",serif"> RASopathies have an important prevalence of cardiac disease with a spectrum that extends from mild to severe and potentially fatal disease. Overall, this study highlights the high prevalence of cardiac involvement in these patients with PV stenosis being the most common form. Due to the heterogeneity of clinical presentation and incomplete penetrance of phenotypes, genetic testing and careful long-term follow-up is essential.</span></span></span></p>
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