Gretchen MacCarrick
A5002641080- Connective tissue disorders research
- Aortic Disease and Treatment Approaches
- Aortic aneurysm repair treatments
- Cardiac Valve Diseases and Treatments
- Cardiovascular Issues in Pregnancy
- Genomics and Rare Diseases
- Cardiovascular and Diving-Related Complications
- Obstructive Sleep Apnea Research
- Cardiac Structural Anomalies and Repair
- Hip disorders and treatments
- Vascular anomalies and interventions
- Congenital Heart Disease Studies
- Dermatological and Skeletal Disorders
- Folate and B Vitamins Research
- RNA modifications and cancer
- TGF-β signaling in diseases
- Peripheral Artery Disease Management
- Sexual Differentiation and Disorders
- Adolescent and Pediatric Healthcare
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Lipid metabolism and disorders
- Medical Education and Admissions
- Vascular Anomalies and Treatments
- Genetic Associations and Epidemiology
- Peptidase Inhibition and Analysis
Johns Hopkins University
2016-2025
Johns Hopkins Medicine
2015-2025
Howard Hughes Medical Institute
2024
Johns Hopkins Hospital
2018
Johns Hopkins Bayview Medical Center
2015
Royal College of Surgeons in Ireland
2010
The Loeys–Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms arterial tortuosity, hypertelorism, bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 TGFBR2) were described to cause LDS, hereby leading impaired TGF-β signaling. More recently, ligands, TGFB2 TGFB3, as well intracellular downstream effectors of...
Background: Loeys-Dietz syndrome is a connective tissue disorder characterized by vascular, craniofacial, and musculoskeletal malformation. Our goal was to report the manifestations, surgical treatment, complications in cervical spine patients with syndrome. Methods: We reviewed clinical imaging data of eighty who were seen at our institution from January 2005 through 2014. Their mean age presentation 17.3 years (range, three months seventy-five years). tested associations use Fisher exact...
Thoracic aortic aneurysm and dissection are complex diagnoses that require management by multidisciplinary providers using a variety of medical therapies, surgical interventions, lifestyle modifications. Pharmacological agents, such as β-blockers (atenolol) angiotensin II type 1 receptor blockers (losartan), have been mainstay treatments for several years, research from the past decade has continued to evaluate these other medication classes further improve patient morbidity mortality....
Background Hypermobile Ehlers-Danlos syndrome is a heritable connective tissue disorder associated with generalized joint hypermobility but also other multisystem comorbidities, many of which may be exacerbated during viral illness or after vaccination. We sought to determine whether individuals hypermobile Ehlers Danlos report an increase in adverse events, including cardiovascular COVID-19 Methods A cross-sectional web-based survey was made available from November 22, 2021, through March...
Abstract Hypertension, compounded by obesity, contributes to cardiovascular disease and mortality. Data describing hypertension prevalence in adults with short stature skeletal dysplasias are lacking, perhaps due poor fit of typical adult blood pressure cuffs on rhizomelic or contracted upper extremities. Through health screening research, was measured attending support group meetings dysplasia clinics. Blood a commercially available, narrower cuff the and/or lower segment arm. Height,...
TGFβ is a multifunctional cytokine that critical in regulating mucosal immunity. Murine studies have revealed disruption of canonical signaling leads to systemic inflammation including colitis. Loeys-Dietz syndrome (LDS) results from heterozygous mutations the genes encoding subunits receptor.All patients with confirmed TGFBR1 or TGFBR2, seen Johns Hopkins Connective Tissue Disorders clinic, were asked participate study. Ninety-three consecutive enrolled, 4 inflammatory bowel disease (IBD)....
Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder. We sought to determine the incidence of scoliosis in patients with LDS, characterize spectrum spinal deformity, results bracing and surgery, define surgical complications.Patients were selected from our institution's database 183 LDS. Imaging measurements performed for 141 whose records permitted evaluation. Deformity changes complications after intervention recorded who underwent or associations tested using Student t tests...
Understanding what matters most to patients can help guide research in a direction that is best situated provide evidence responsive their core concerns. This better inform the treatment decision-making process for and physicians. The Aortic Dissection (AD) Collaborative built collaborative AD infrastructure involving other stakeholders facilitate patient-centered outcomes training, support, networking among those affected by AD. Two surveys semi-structured interviews were conducted between...