Results 31 to 40 of about 4,070 (210)

Obstetric considerations for aortopathy in pregnancy

Annals of Cardiothoracic Surgery, 2023
Aortic dissection (AD) associated with pregnancy can have catastrophic consequences for the mother and/or fetus. AD occurs in 4-5 per 1,000,000 pregnancies and, despite its rarity, is the third most frequent maternal cardiovascular cause of death. AD associated with pregnancy is most likely to occur in the third trimester or postpartum period.
Whelan, Anna R., Ringel, Myles E., Shalhub, Sherene, Russo, Melissa L.   +3 more
openaire   +2 more sources

Aortopathy in a Mouse Model of Marfan Syndrome Is Not Mediated by Altered Transforming Growth Factor β Signaling

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2017
BackgroundMarfan syndrome (MFS) is caused by mutations in the gene encoding fibrillin‐1 (FBN1); however, the mechanisms through which fibrillin‐1 deficiency causes MFS‐associated aortopathy are uncertain. Recently, attention was focused on the hypothesis
Hao Wei, Jie Hong Hu, Stoyan N. Angelov, Kate Fox, James Yan, Rachel Enstrom, Alexandra Smith, David A. Dichek   +7 more
doaj   +1 more source

The Genetics of Aortopathies in Clinical Cardiology [PDF]

Clinical Medicine Insights: Cardiology, 2017
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani   +4 more
openaire   +3 more sources

Biomarkers of Aortopathy in Marfan Syndrome [PDF]

Cardiology in Review, 2020
Marfan Syndrome (MFS) is an autosomal dominant, genetically inherited connective tissue disorder which primarily affects the cardiovascular system, but can also have systemic manifestations. First described in 1896, MFS has a prevalence of around 1/5000 in the general population. It is becoming increasingly common to see patients with MFS in a clinical
Iskandar, Zaid, Mordi, Ify, Lang, Chim, Huang, Jeffrey, Choy, Anna   +4 more
openaire   +3 more sources

Genetics of Heritable Thoracic Aortic Disease

Cardiogenetics, 2022
Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate ...
Efstathios Papatheodorou, Dimitrios Degiannis, Aris Anastasakis   +2 more
doaj   +1 more source

Luetic aortopathy: Revisited

Indian Journal of Sexually Transmitted Diseases and AIDS, 2010
We report a case of 38-year-old male, who presented with a large pulsatile swelling on the left side of the anterior chest wall of 4 months' duration with a gradual increase in size. He gave history of sexual promiscuity in the form of unprotected sexual intercourse prior to his marriage in his early 20s. He also gave a history of ulceration on coronal
Madke, Bhushan Sevakram, Agrawal, Nandkishor Babulal, Vaideeswar, Pradeep, Pradhan, Mayuresh, Rojekar, Amey Vijay, Khopkar, Uday Sharadchandra   +5 more
openaire   +3 more sources

DNA Methylation Analysis of Turner Syndrome BAV

Frontiers in Genetics, 2022
Turner Syndrome (TS) is a rare cytogenetic disorder caused by the complete loss or structural variation of the second sex chromosome. The most common cause of early mortality in TS results from a high incidence of left-sided congenital heart defects ...
Jacob Gutierrez, Brett A. Davis, Kimberly A. Nevonen, Samantha Ward, Lucia Carbone, Lucia Carbone, Lucia Carbone, Lucia Carbone, Cheryl L. Maslen   +8 more
doaj   +1 more source

Aortopathy in the 7q11.23 microduplication syndrome [PDF]

American Journal of Medical Genetics Part A, 2014
The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams‐Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings ...
Parrott, Ashley, James, Jeanne, Goldenberg, Paula, Hinton, Robert B., Miller, Erin, Shikany, Amy, Aylsworth, Arthur S., Kaiser-Rogers, Kathleen, Ferns, Sunita J., Lalani, Seema R., Ware, Stephanie M.   +10 more
openaire   +3 more sources

Endothelial nitric oxide synthase alterations are independent of turbulence in the aorta of patients with a unicuspid aortic valveCentral MessagePerspective

JTCVS Open, 2021
Objectives: Certain aortic valve malformations predispose to ascending aortic aneurysm, although the mechanisms are incompletely understood. The aim of this study was to determine whether turbulence across the unicuspid aortic valve (UAV) contributes to ...
Brittany Balint, PhD, Catherine Kollmann, MD, Simon Gauer, MD, Jan M. Federspiel, MD, Hans-Joachim Schäfers, MD, PhD   +4 more
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source