Aortic dilation, genetic testing, and associated diagnoses

Purpose:The aims of this study were to determine the genetic diagnoses most frequently associated with aortic dilation in a large population and to describe the results of genetic testing in the same.Methods:A retrospective review of records from patients with known aortic dilation identified through an echocardiogram database was performed. During the study period, different chromosomal microarray platforms and molecular diagnostic techniques were used.Results:A total of 715 patients (mean age, 9.7 years; 67% male) met study inclusion criteria. The overall frequency of underlying presumptive or confirmed genetic diagnoses was 17% (125/715). Molecular evaluation for possible underlying aortopathy-related disorders was performed in 9% of patients (66/715). Next-generation sequencing panels were performed in 16 patients, and pathogenic abnormalities were detected in 4 (25%). Microarrays were conducted in 10% of patients (72/715), with a total of 23 pathogenic copy-number variants identified in 19 patients (26%). Marfan syndrome was the most frequently recognized genetic disorder associated with aortic dilation, but other cytogenetic abnormalities and associated diagnoses also were identified.Conclusion:The differential diagnosis in patients with aortic dilation is broad and includes many conditions outside the common connective tissue disorder spectrum. A genetics evaluation should be considered to assist in the diagnostic evaluation.Genet Med 18 4, 356-363.