Clinical analysis of aortic arch malformations: insights from multiple case studies

Introduction. Aortic arch malformations are rare con­ge­ni­tal diseases that often present without any symptoms, ma­king their precise documentation challenging. However, some malformations lead to significant cardiorespiratory ef­fects. This study aims to analyze the incidence, clinical pre­sen­ta­tions and outcomes of patients diagnosed with aor­tic arch malformations over twelve months. Materials and method. The study included 70 patients admitted bet­ween January 2023 and December 2023 with aortic mal­for­ma­tions. Of these, six patients with aortic arch mal­for­ma­tions were selected for detailed examination. Data were collected through clinical evaluations, imaging (echo­car­dio­gra­phy, CT scan), genetic assessments and in­for­ma­tion about surgical interventions that occurred, fo­cu­sing on specific types such as double aortic arch, in­ter­rup­ted aortic arch and right aortic arch anomalies. Dis­cus­sion. The study classified malformations based on known classifications, and analyzed them using mul­ti­ple diagnostic tools. Comparisons were made with the es­ta­blished literature in order to assess incidence rates and genetic associations, such as the strong correlation bet­ween interrupted aortic arch and DiGeorge syndrome. Des­pite advancements in imaging, rare malformations remain un­der­do­cu­men­ted due to low incidence rates, impacting sta­tis­ti­cal significance in prevalence data. Conclusions. This study reported a prevalence of 0.184% for aortic arch mal­for­ma­tions in the patient population, consistent with the literature. Aortic arch anomalies often coincide with other cardiac defects, complicating the clinical outcomes. Ad­van­ces in imaging and early genetic testing play crucial roles in diagnosis and management, enhancing patient prognosis. Prostaglandin E1 and surgical interventions re­main essential for managing cases, especially for defects like interrupted aortic arch. Further studies are warranted to bet­ter estimate the prevalence and refine the management stra­te­gies for these rare congenital anomalies.