Dianna M. Milewicz
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View article: Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome
Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome Open
Spontaneous arterial aneurysms and dissections are relatively common in patients with vascular Ehlers-Danlos syndrome, and arterial rupture accounts for most deaths. Members of the Aortic and Vascular Disease Clinic at UTHealth Houston hol…
View article: Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Genome sequencing reveals the impact of pseudoexons in rare genetic disease Open
Genome sequencing can overcome limitations of clinical genetic testing, such as the inability to call intronic variants. Our findings highlight pseudoexons as a common mechanism via which deep intronic variants cause Mendelian disease.
View article: Focal Adhesion Kinase Drives Rho/ROCK and mTOR Signaling to Protect and Augment Aortic Dissections
Focal Adhesion Kinase Drives Rho/ROCK and mTOR Signaling to Protect and Augment Aortic Dissections Open
View article: Lifelong aortic risk in Turner syndrome: Unexpected aortic events in asymptomatic patients
Lifelong aortic risk in Turner syndrome: Unexpected aortic events in asymptomatic patients Open
View article: MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload
MYH11 rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload Open
Smooth muscle cell-specific myosin heavy chain, encoded by MYH11 , is selectively expressed in smooth muscle cells ( SMC s). Pathogenic variants in MYH11 predispose to a number of disorders, including heritable thoracic aortic disease asso…
View article: Immature Acta2R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS
Immature Acta2R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS Open
ACTA2 pathogenic variants altering arginine 179 cause childhood-onset strokes due to moyamoya disease (MMD)-like occlusions of the distal internal carotid arteries, but the mechanisms of pathogenesis are unknown and no preventive treatment…
View article: Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome Open
There are significant gene- and sex-specific differences in the prevalence and age of onset of arterial events associated with these heritable thoracic aortic disease genes, highlighting the importance of tailored counseling and surveillan…
View article: Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection
Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection Open
Background Thoracic aortic aneurysm and dissection (TAAD) can have catastrophic health consequences. Eleven genes have strong or definitive evidence for causing heritable TAAD (HTAAD). However, patients are seldom tested for rare pathogeni…
View article: Loss of function variants in<i>ADAMTS6</i>: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)
Loss of function variants in<i>ADAMTS6</i>: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS) Open
Marfan syndrome (MS), Loeys-Dietz syndrome (LDS), and heritable thoracic aortic aneurysms and dissections (hTAAD) are autosomal dominant connective tissue disorders with overlapping clinical features and underlying molecular heterogeneity.…
View article: Predicting Thoracic Aortic Dissection in a Diverse Biobank Using a Polygenic Risk Score
Predicting Thoracic Aortic Dissection in a Diverse Biobank Using a Polygenic Risk Score Open
View article: Moyamoya syndrome in a patient with pathogenic heterozygous variant in the SETD5 gene: A case report
Moyamoya syndrome in a patient with pathogenic heterozygous variant in the SETD5 gene: A case report Open
A 25-year-old patient with dysmorphic facies presented with tingling in both hands and a speech disorder that occurred for a few hours approximately once a month since the age of 12 years. A magnetic resonance angiography of the brain show…
View article: Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing Open
Individuals with heritable thoracic aortic disease (HTAD) face a high risk of deadly aortic dissections, but genetic testing identifies causative variants in only a minority of cases. We explored the contribution of non-canonical splice va…
View article: Nanoparticle contrast-enhanced computed tomography of sporadic aortic aneurysm and dissection: Effect of nanoparticle size and contrast agent dose
Nanoparticle contrast-enhanced computed tomography of sporadic aortic aneurysm and dissection: Effect of nanoparticle size and contrast agent dose Open
Background: Aortopathies, such as aortic aneurysm and dissection (AAD), are associated with enhanced aortic wall permeability and endothelial dysfunction. We previously demonstrated that nanoparticle contrast-enhanced computed tomog…
View article: Inducing hypertension in Myh11R247C/R247C mice triggers aortic dissections with increased focal adhesion kinase signaling
Inducing hypertension in Myh11R247C/R247C mice triggers aortic dissections with increased focal adhesion kinase signaling Open
Objective We sought to determine if hypertension in combination with a “variant of uncertain significance” that disrupts protein function, MYH11 p.Arg247Cys, would induce aortic dissections in a mouse model. Approach and results Administra…
View article: Inhibition of vascular smooth muscle cell PERK/ATF4 ER stress signaling protects against abdominal aortic aneurysms
Inhibition of vascular smooth muscle cell PERK/ATF4 ER stress signaling protects against abdominal aortic aneurysms Open
Abdominal aortic aneurysms (AAA) are a life-threatening cardiovascular disease for which there is a lack of effective therapy preventing aortic rupture. During AAA formation, pathological vascular remodeling is driven by vascular smooth mu…
View article: Early diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium
Early diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium Open
View article: Measurement of oxygen consumption rate in mouse aortic tissue
Measurement of oxygen consumption rate in mouse aortic tissue Open
Thoracic aortic aneurysm and dissection (TAD) is a life-threatening vascular disorder, and smooth muscle cell mitochondrial dysfunction leads to cell death, contributing to TAD. Accurate measurements of metabolic processes are essential fo…
View article: Open Repair of Isolated Internal Iliac Artery Aneurysm in a Young Patient With Loeys–Dietz Syndrome
Open Repair of Isolated Internal Iliac Artery Aneurysm in a Young Patient With Loeys–Dietz Syndrome Open
View article: Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel Open
View article: Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Genome sequencing reveals the impact of pseudoexons in rare genetic disease Open
Purpose Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to addres…
View article: Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve Open
Background Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syn…
View article: Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference
Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference Open
View article: Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium. Open
Pathological mitral valve phenotypes are more prevalent in individuals with PV in transforming growth factor-β pathway genes, particularly SMAD3. MR and MVP but not MAD are associated with adverse aortic and cardiac events. Because …
View article: Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve
Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve Open
Bicuspid aortic valve (BAV), the most common congenital heart defect, is a major cause of aortic valve disease requiring valve interventions and thoracic aortic aneurysms predisposing to acute aortic dissections. The spectrum of BAV ranges…
View article: Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications Open
View article: Predicting thoracic aortic dissection in a diverse biobank using a polygenic risk score
Predicting thoracic aortic dissection in a diverse biobank using a polygenic risk score Open
Background Thoracic aortic dissection is a life-threatening condition that often occurs in the presence of aortic dilation. Despite a known association between ascending aortic diameter (AscAoD) and dissection risk, predicting dissection r…
View article: <i>MYH11</i>rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload
<i>MYH11</i>rare variant augments aortic growth and induces cardiac hypertrophy and heart failure with pressure overload Open
Smooth muscle cell-specific myosin heavy chain, encoded by MYH11 , is selectively expressed in smooth muscle cells ( SMC s). Pathogenic variants in MYH11 predispose to a number of disorders, including heritable thoracic aortic disease asso…
View article: Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes
Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes Open
View article: The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare Professionals
The UTHealth Houston Adult Cardiovascular Genomics Certificate Program: Efficacy and Impact on Healthcare Professionals Open
View article: Differentiation between descending thoracic aortic diseases using machine learning and plasma proteomic signatures
Differentiation between descending thoracic aortic diseases using machine learning and plasma proteomic signatures Open