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Dianna M. Milewicz
University of Texas Health Science Center at Houston
326Publications
56H-index
12.4kCitations
Publications 326
Newest
#1Gerburg K. Schwaerzer (UCSD: University of California, San Diego)H-Index: 2
#2Hema Kalyanaraman (UCSD: University of California, San Diego)H-Index: 5
Last.Hemal H. Patel (UCSD: University of California, San Diego)H-Index: 41
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People heterozygous for an activating mutation in protein kinase G1 (PRKG1, p.Arg177Gln) develop thoracic aortic aneurysms and dissections (TAAD) as young adults. Here we report that mice heterozygous for the mutation have a three-fold increase in basal protein kinase G (PKG) activity, and develop age-dependent aortic dilation. Prkg1R177Q/+ aortas show increased smooth muscle cell apoptosis, elastin fiber breaks, and oxidative stress compared to aortas from wild type littermates. Transverse aort...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 69
Last.K. Nicole Weaver (Cincinnati Children's Hospital Medical Center)H-Index: 6
view all 24 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder owing to pathogenic variants in COL3A1 that lead to impaired type III collagen production. We aim to describe the contemporary multi-institutional experience of aortic and arterial pathology in individuals with vEDS, to evaluate disease patterns and refine management recommendations. Methods This cross-sectional, retrospective study of individuals with genetically confirmed vEDS was conducted between 2...
#1Amélie Pinard (University of Texas Health Science Center at Houston)H-Index: 2
#2Stéphanie Guey (Paris Diderot University)H-Index: 1
Last.Françoise Bergametti (Paris Diderot University)H-Index: 1
view all 18 authors...
Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger. Exome sequencing from 39 trios were analyzed. We identified four de novo variants in three genes not previously associated with MMA: CHD4, CNOT3, and SETD5. Identification of additional rare variants in these genes in 158 unr...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Ellen S. Regalado (University of Texas Health Science Center at Houston)H-Index: 24
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 56
view all 4 authors...
Abstract 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 m...
#1Alexander P. Nissen (University of Texas Health Science Center at Houston)H-Index: 1
#2Van Thi Thanh Truong (University of Texas Health Science Center at Houston)H-Index: 6
Last.Siddharth K. Prakash (University of Texas Health Science Center at Houston)H-Index: 21
view all 7 authors...
Abstract Objective Bicuspid aortic valve (BAV) is a common risk factor for thoracic aortic aneurysm and dissection. Guidelines for elective ascending aortic intervention (AAI) in BAV are derived from limited evidence, and the extent of practice variation due to patient and provider characteristics is unknown. Using data from two large cardiovascular registries (BAVCon and GenTAC), we investigated factors that influence decisions for AAI. Methods All BAV cases with known aortic diameters and surg...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Mary J. Roman (Cornell University)H-Index: 90
Last.Dianna M. Milewicz (University of Texas Health Science Center at Houston)H-Index: 56
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Abstract Background To investigate clinical course of patients with TBAD occurring at a young age with confirmed or suspected heritable thoracic aortic disease Methods Individuals with TBAD occurring at an age Results A total of 150 individuals met inclusion criteria (mean age of TBAD 36.9+9 years): 73 MFS TBAD, 42 FTBAD, and 35 sporadic TBAD. The cohort of sporadic TBAD had more males (71.4%) and less individuals of European descent (51.4%) compared to MFS TBAD (57.5% male, 84.9% European desce...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 69
Last.Katie E. Shean (BIDMC: Beth Israel Deaconess Medical Center)H-Index: 7
view all 0 authors...
Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. Methods This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The insti...
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