title: Long-term outcomes of adults with features of VACTERL association.
abstract: VACTERL association involves the presence of specific congenital, multi-organ malformations that tend to co-occur. Clinical and research efforts typically center on pediatric patients, and there is a scarcity of information in the literature regarding VACTERL-related issues and outcomes in adulthood. We describe here 11 adults with features of VACTERL association ascertained through our research study on the condition. In our cohort of adult patients, approximately 25% of medically significant malformations that are component features of VACTERL association, including 40% of vertebral, 50% of cardiac, and 50% of renal anomalies, were not identified during childhood. Additionally, medical sequelae of many of the primary malformations identified in infancy or early childhood persist or are first reported in adulthood. These sequelae can involve challenging medical and surgical management in adulthood. As most adults with VACTERL association are not specifically followed for VACTERL-related issues, a more uniform diagnostic work-up and a low threshold for investigation of medical sequelae of the primary disorder may enhance the quality of clinical management in these patients.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892-3717, USA. raamm@ccf.org
authors.forename: Manu S
authors.initials: MS
authors.lastname: Raam
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Pineda-Alvarez
authors.forename: Donald W
authors.initials: DW
authors.lastname: Hadley
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D015331:Cohort Studies; D004947:Esophagus / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000473:pathology; D008297:Male; D008875:Middle Aged; D013131:Spine / Q000002:abnormalities*; D013997:Time Factors; D014132:Trachea / Q000002:abnormalities