Harry C. Dietz
Johns Hopkins University School of Medicine
CardiologyMarfan syndromeGeneticsMedicineBiology
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Publications 332
#1Samira AsgariH-Index: 5
#2Yang LuoH-Index: 11
Last. Kamil SlowikowskiH-Index: 15
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On average, Peruvian individuals are among the shortest in the world1. Here we show that Native American ancestry is associated with reduced height in an ethnically diverse group of Peruvian individuals, and identify a population-specific, missense variant in the FBN1 gene (E1297G) that is significantly associated with lower height. Each copy of the minor allele (frequency of 4.7%) reduces height by 2.2 cm (4.4 cm in homozygous individuals). To our knowledge, this is the largest effect size know...
Background: Bicuspid aortic valve (BAV) is the most prevalent congenital heart defect affecting 1% to 2% of the population. It is associated with ascending aorta dilatation. Valve morphology, aorti...
#1Michael Grattan (UWO: University of Western Ontario)H-Index: 3
#2Andrea Prince (Centre Hospitalier Universitaire Sainte-Justine)H-Index: 1
Last. Salah A MohamedH-Index: 14
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BACKGROUND: Bicuspid aortic valve (BAV) is the most prevalent congenital heart defect affecting 1% to 2% of the population. It is associated with ascending aorta dilatation. Valve morphology, aortic stenosis (AS), and aortic insufficiency (AI) have been proposed as potential risk factors; however, evaluating their role is difficult, as these factors are inherently related. The aim of this study was to determine whether BAV morphology and dysfunction are independent determinants for ascending aor...
1 CitationsSource
#2Gretchen MacCarrick (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 3
Last. Anthony L. Guerrerio (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 10
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BACKGROUND: Loeys-Dietz syndrome (LDS) is a systemic connective tissue disease (CTD) associated with a predisposition for intestinal inflammation, food allergy, and failure to thrive, often necessitating nutritional supplementation via gastrostomy tube. Poor wound healing has also been observed in in some patients with CTD, potentially increasing the risk of surgical interventions. We undertook to determine the safety and efficacy of gastrostomy tube placement in this population. METHODS: We per...
#1David R. Murdock (BCM: Baylor College of Medicine)H-Index: 7
Last. Gretchen MacCarrickH-Index: 3
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Abstract A connective tissue disorder is any disease that impacts the structures between cells, typically impacting collagen or elastin protein production or function. Heritable disorders of connective tissue is a broad category, ranging from a description of nonspecific features (hypermobility, flat feet, scoliosis) seen somewhat commonly in the general population to genetic syndromes typically without vascular involvement (Stickler syndrome, Ehlers–Danlos syndrome) to syndromes predisposing to...
#1Caitlin J. Bowen (HHMI: Howard Hughes Medical Institute)
#1Caitlin J. Bowen (HHMI: Howard Hughes Medical Institute)
Last. Harry C. DietzH-Index: 90
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Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene, which encodes the pro-alpha 1 chain of collagen III. Loss of structural integrity of the extracellular matrix is believed to drive the signs and symptoms of this condition, including spontaneous arterial dissection and/or rupture, the major cause of mortality. We created 2 mouse models of vEDS that carry heterozygous mutations in Col3a1 that encode glyci...
#1Juan Li (Rockefeller University)H-Index: 3
#2Marco Ritelli (University of Brescia)H-Index: 16
Last. Anne Puel (Rockefeller University)H-Index: 58
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Genetic etiologies of chronic mucocutaneous candidiasis (CMC) disrupt human IL-17A/F–dependent immunity at mucosal surfaces, whereas those of connective tissue disorders (CTDs) often impair the TGF-β–dependent homeostasis of connective tissues. The signaling pathways involved are incompletely understood. We report a three-generation family with an autosomal dominant (AD) combination of CMC and a previously undescribed form of CTD that clinically overlaps with Ehlers-Danlos syndrome (EDS). The pa...
3 CitationsSource
#1Florian Schoenhoff (Johns Hopkins University)H-Index: 17
#2Diane E. Alejo (Johns Hopkins University)H-Index: 22
Last. Duke E. Cameron (Johns Hopkins University)H-Index: 43
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Abstract Objectives We sought to develop strategies for management of the aortic arch in patients with Loeys-Dietz syndrome (LDS) through a review of our clinical experience with these patients and a comparison with our experience in Marfan syndrome patients (MFS). Methods We reviewed hospital and follow-up records of 79 LDS patients and compared them with 256 Marfan syndrome patients who served as reference controls. Results In the LDS group, 16% of patients presented initially with acute aorti...
#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. Barbara L. KronerH-Index: 23
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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...
1 CitationsSource
#1Aude Beyens (UGent: Ghent University)H-Index: 1
#2Juliette Albuisson (University of Paris)H-Index: 3
Last. Bert Callewaert (UGent: Ghent University)H-Index: 27
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In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper.
1 CitationsSource