Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation
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. S...
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| Series: | AACE Clinical Case Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2376060520304223 |
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doaj-19fdea151ff74e3bbcd096a89f5772362021-04-30T07:24:37ZengElsevierAACE Clinical Case Reports2376-06052017-01-0134291293Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root DilatationMelanie Richard, CCPA0Pallav Shah, MD1Pam Katz, MD2Karin Love, CCPA3Nikki Semaniuk, CCPA4Alan Menkis, MD5Cheryl Rockman-Greenberg, MD, CM6Cardiac Sciences Program, University of Manitoba, Winnipeg, Manitoba, Canada.Cardiac Sciences Program, University of Manitoba, Winnipeg, Manitoba, Canada.Department of Internal Medicine (Section of Endocrinology), University of Manitoba, Winnipeg, Manitoba, Canada.Cardiac Sciences Program, University of Manitoba, Winnipeg, Manitoba, Canada.Cardiac Sciences Program, University of Manitoba, Winnipeg, Manitoba, Canada.Cardiac Sciences Program, University of Manitoba, Winnipeg, Manitoba, Canada.Program of Genetics and Metabolism, Winnipeg Regional Health Authority and University of Manitoba, Winnipeg, Manitoba, Canada.; Address correspondence to Dr. Cheryl Rockman-Greenberg, Program in Genetics and Metabolism, FE229- 820 Sherbrook Street, Winnipeg, MB R3A1R9, Canada.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 the HSD11B2 gene. The patient was found to be homozygous for a sequence variant designated as c.622CC>T (p. Arg208Cys) in the HSD11B2 gene, as previously reported in an unrelated patient, therefore confirming the pathogenicity of this mutation. No mutations were identified on the core vascular aneurysm panel.Conclusion: This is the first report of aortic aneurysm formation and dissection in a patient with confirmed AME. We hypothesize that the mineralocorticoid effect of high free cortisol and its metabolites is an independent causative factor for aortic aneurysm formation.Abbreviations: AME apparent mineralocorticoid excess; BP blood pressure; HSD11B2 11β-hydroxysteroid dehydrogenase type 2http://www.sciencedirect.com/science/article/pii/S2376060520304223 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Melanie Richard, CCPA Pallav Shah, MD Pam Katz, MD Karin Love, CCPA Nikki Semaniuk, CCPA Alan Menkis, MD Cheryl Rockman-Greenberg, MD, CM |
| spellingShingle |
Melanie Richard, CCPA Pallav Shah, MD Pam Katz, MD Karin Love, CCPA Nikki Semaniuk, CCPA Alan Menkis, MD Cheryl Rockman-Greenberg, MD, CM Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation AACE Clinical Case Reports |
| author_facet |
Melanie Richard, CCPA Pallav Shah, MD Pam Katz, MD Karin Love, CCPA Nikki Semaniuk, CCPA Alan Menkis, MD Cheryl Rockman-Greenberg, MD, CM |
| author_sort |
Melanie Richard, CCPA |
| title |
Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation |
| title_short |
Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation |
| title_full |
Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation |
| title_fullStr |
Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation |
| title_full_unstemmed |
Type A Aortic Dissection, Apparent Mineralocorticoid Excess Syndrome, and Syndromic Aortic Root Dilatation |
| title_sort |
type a aortic dissection, apparent mineralocorticoid excess syndrome, and syndromic aortic root dilatation |
| publisher |
Elsevier |
| series |
AACE Clinical Case Reports |
| issn |
2376-0605 |
| publishDate |
2017-01-01 |
| description |
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 the HSD11B2 gene. The patient was found to be homozygous for a sequence variant designated as c.622CC>T (p. Arg208Cys) in the HSD11B2 gene, as previously reported in an unrelated patient, therefore confirming the pathogenicity of this mutation. No mutations were identified on the core vascular aneurysm panel.Conclusion: This is the first report of aortic aneurysm formation and dissection in a patient with confirmed AME. We hypothesize that the mineralocorticoid effect of high free cortisol and its metabolites is an independent causative factor for aortic aneurysm formation.Abbreviations: AME apparent mineralocorticoid excess; BP blood pressure; HSD11B2 11β-hydroxysteroid dehydrogenase type 2 |
| url |
http://www.sciencedirect.com/science/article/pii/S2376060520304223 |
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