International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and …

HI Michelena, A Della Corte… - European Journal of …, 2021 - academic.oup.com
Abstract This International Consensus Classification and Nomenclature for the congenital
bicuspid aortic valve condition recognizes 3 types of bicuspid valves: 1. The fused type (right …

Clinical genetics of craniosynostosis

AOM Wilkie, D Johnson, SA Wall - Current opinion in pediatrics, 2017 - journals.lww.com
Strategies to optimize clinical genetic diagnostic pathways by combining both targeted and
next-generation sequencing are discussed. In addition to improved genetic counseling …

2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint …

Writing Committee Members, EM Isselbacher… - Journal of the American …, 2022 - jacc.org
Abstract Aim The “2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic
Disease” provides recommendations to guide clinicians in the diagnosis, genetic evaluation …

Loeys-dietz syndrome

BL Loeys - 1993 - books.google.com
In 2005, Bart Loeys and Harry Dietz described a new syndromic aneurysmal entity. Its
patients were typically characterized by a clinical triad that included hypertelorism (widely …

Extracellular Matrix in Vascular Disease, Part 2/4: JACC Focus Seminar

J Barallobre-Barreiro, B Loeys, M Mayr… - Journal of the American …, 2020 - jacc.org
Medium-sized and large arteries consist of 3 layers: the tunica intima, tunica media, and
tunica adventitia. The tunica media accounts for the bulk of the vessel wall and is the chief …

Genetics in bicuspid aortic valve disease: where are we?

K Bravo-Jaimes, SK Prakash - Progress in cardiovascular diseases, 2020 - Elsevier
Bicuspid aortic valve (BAV) is the most common congenital heart defect, found in up to 2% of
the population and associated with a 30% lifetime risk of complications. BAV is inherited as …

Genes associated with thoracic aortic aneurysm and dissection: 2019 update and clinical implications

TF Vinholo, AJ Brownstein, BA Ziganshin, MA Zafar… - Aorta, 2019 - thieme-connect.com
Thoracic aortic aneurysm is a typically silent disease characterized by a lethal natural
history. Since the discovery of the familial nature of thoracic aortic aneurysm and dissection …

[HTML][HTML] 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American heart association/American college of cardiology joint …

WC Members, EM Isselbacher, O Preventza… - Journal of the American …, 2022 - Elsevier
Abstract Aim The “2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic
Disease” provides recommendations to guide clinicians in the diagnosis, genetic evaluation …

Genes associated with thoracic aortic aneurysm and dissection: 2018 update and clinical implications

AJ Brownstein, V Kostiuk, BA Ziganshin, MA Zafar… - Aorta, 2018 - thieme-connect.com
Thoracic aortic aneurysms, with an estimated prevalence in the general population of 1%,
are potentially lethal, via rupture or dissection. Over the prior two decades, there has been …

Genetic basis of human congenital heart disease

SN Nees, WK Chung - Cold Spring Harbor perspectives …, 2020 - cshperspectives.cshlp.org
Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …