Análise de doença genética em pacientes pediátricos com dilatação da aorta: uma série de casos no IPPMG-UFRJ

Abstract

Objective: Describe a case series of pediatric patients followed at IPPMG-UFRJ with aortic dilation and to identify the associated pathogenic or likely pathogenic genetic variants. We seek to correlate the genetic profile with clinical and echocardiographic characteristics to optimize the management and follow-up of these patients. Methodology: Observacional retrospective study. A retrospective case series was analyzed at the Pediatric Cardiology Outpatient Clinic of IPPMG-UFRJ, with approval from the institution’s Research Ethics Committee. The sample consisted of three pediatric patients with a clinical and radiological diagnosis of thoracic aortic dilation. Data collection was performed through medical records reviews, focusing on clinical, laboratory, and imaging information, as well as genetic testing records where available. The identified genetic variants were classified according to the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen) guidelines for aortopathy genes, which includes the analysis of variants with high, intermediate, and low pathogenicity. The patients included in this study are followed at the IPPMG pediatric cardiology clinic and are part of the RENOMICA project. Only patients under 18 years of age with aortic dilation (Z-score > +2) and who provided an Informed Consent Form (ICF) signed by guardians—and an Informed Assent Form (IAF) for those over 6 years old—were included. Results: The analysis of cases at IPPMG/UFRJ highlights the complexity of pediatric aortopathies, whose etiology, unlike in adults, is predominantly linked to genetic syndromes (such as Monosomy X) and congenital heart diseases. The study reinforces the Z-score as an essential diagnostic tool and the control of arterial hypertension as a critical factor in mitigating aneurysmal progression. Integration into the RENOMICA project stands out as an advancement in care, allowing genetic sequencing to refine clinical-surgical management and enable cascade family screening. Conclusion: The combination of classical cardiovascular propedeutics and genomic surveillance is fundamental for early detection and the prevention of catastrophic outcomes, such as dissection and sudden death, in this population.