Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation

Abstract

ABSTRACT Objective: To determine the cause of acute life-threatening aortic root dissection in a 36-year-old male with a long-standing history of apparent mineralocorticoid excess (AME) and hypertension since childhood. Methods: Cortisol metabolites were analyzed by urine tandem mass spectrometry. Screening for DNA variants was performed using the Marfan Syndrome and Related Aortopathies NextGen Sequencing Panel (Collagen Diagnostic Laboratory, University of Washington, Seattle). Cytogenetic microarray analysis (CombiMatrix, CA) was performed. Sequencing of the 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) in a region of homozygosity (ROH) identified on microarray analysis was targeted using Sanger sequencing (Prevention Genetics) on an ABI 3730x1 capillary sequencer. Results: There was reduced urinary excretion of all 11-carboxyl containing steroids and high excretion of free cortisol and its metabolites, consistent with a diagnosis of AME. Microarray analysis revealed 4 ROHs. One ROH contained ...