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The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln).
Shalhub, Sherene; Regalado, Ellen S; Guo, Dong-Chuan; Milewicz, Dianna M.
Afiliação
  • Shalhub S; Division of Vascular Surgery, Department of Surgery, University of Washington School of Medicine, Seattle, Wash. Electronic address: shalhub@uw.edu.
  • Regalado ES; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex.
  • Guo DC; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex.
  • Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston, Houston, Tex.
J Vasc Surg ; 70(3): 718-723, 2019 09.
Article em En | MEDLINE | ID: mdl-30871887
OBJECTIVE: The c.530G>A (p.Arg177Gln) mutation in PRKG1 has been shown to be associated with thoracic aortic aneurysms and dissections. This rare mutation accounts for an estimated 1% of nonsyndromic heritable thoracic aortic disease. We sought to describe the clinical presentation of type B aortic dissection (TBAD), management, and outcomes in patients with this mutation. METHODS: This is a descriptive multi-institutional retrospective study of patients from six families with the PRKG1 mutation. Patients with TBAD were selected for analysis. Demographics, family histories, TBAD management, and outcomes were reviewed. RESULTS: Of the 29 individuals diagnosed with the PRKG1 mutation, 12 (41.3%) had TBAD (50% male, TBAD median age: 31 years [range, 16-58 years], median follow-up: 6 years [range, 3-15 years] after TBAD). All had a family history of aortic dissections and none had features of Marfan syndrome. The median size of the descending thoracic aorta (DTA) at TBAD was 4.1 cm (range, 3.8-5 cm). Most cases (9 acute TBAD, 1 incidental TBAD diagnosis during screening) were managed medically. One case had open DTA repair the acute phase. Repair for dissection-related aneurysmal degeneration was performed in seven cases (58.3%) in the chronic phase at a median of 2 years (range, 1-8 years) after TBAD. In four cases (33.3%), the DTA remained stable in size over a range of 1 to 7 years after TBAD. Type A aortic dissection subsequent to TBAD occurred in three cases (25%). There were four (33.3%) deaths in the series, all aortic related at a median age of 24 years (range, 19-43 years). CONCLUSIONS: The PRKG1 (p.Arg177Gln) mutation although rare is associated with nonsyndromic TBAD in young and middle-aged patients. Workup for this gene mutation should be included as part of the workup for TBAD etiology in relatively young patients and those with familial history of aortic dissections. Once diagnosed, testing of first-degree family members is warranted. In all individuals with a PRKG1 mutation, close follow-up for aortic root dilatation and hypertension control is essential to reduce the risk of type A or type B aortic dissection, and in cases of TBAD, to decrease the risk of dissection-related aneurysmal degeneration.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma da Aorta Torácica / Proteína Quinase Dependente de GMP Cíclico Tipo I / Dissecção Aórtica / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: J Vasc Surg Assunto da revista: ANGIOLOGIA Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma da Aorta Torácica / Proteína Quinase Dependente de GMP Cíclico Tipo I / Dissecção Aórtica / Mutação Tipo de estudo: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged País/Região como assunto: America do norte Idioma: En Revista: J Vasc Surg Assunto da revista: ANGIOLOGIA Ano de publicação: 2019 Tipo de documento: Article