Description of Research Expertise
Dr. Pyeritz focuses his research in two areas: Mendelian disorders of the cardiovascular system, especially those involving defects of connective tissue, and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions, diseases in which the aorta and occasionally major arterial branches, gradually enlarge and dissect, leading to early demise if untreated. Current efforts include the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosis and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT).
Selected Publications
Handisides JC, Hollenbeck-Pringle, Uazark K, Trachtenberg FL, Pemberton VL, Atz TW, Bradley TJ, Capella E, De Nobele S, Groh GK, Hamstra MS, Korsin R, Levine JC, Lindaur B, Liou A, Mac Neal MK, Markham LW, Morrison T, Mussatto KA, Olson AK, Pierpont ME, Pyeritz RE, Radojewski EA, Roman MJ, Sparks EA, Xu M, Lacro RV, for the Pediatric Heart Network Investigators.: Health-related quality of life in children and young adults with Marfan syndrome. J Pediatr 2019;204:250-5. : 2019.
Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE.:
FBN1 Coding Variants and Nonsyndromic Aortic Disease. Circ Genom Precis Med. 2019; Jun;12(6):e002454. doi: 10.1161/CIRCGEN.119.002454.
: 2019.
Curnes NR, Desjardins B, Pyeritz RE, Chittams J, Sienko D, Trerotola SO.: Lack of growth of small untreated pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. 2019 June 26. pii: S1051-0443(19)30378-1. doi: 10.1016/j.jvir.2019.04.009. : 2019.
Bai HX, Pyeritz RE, Trerotola SO.: Covered stents in the treatment of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2018;29(7):981-5. : 2018.
Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P.: Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in hereditary haemorrhagic telangiectasia. J Med Genet 2018;Sept 22. pii: jmedgenet-2018-105561 : 2018.
Chick JFB, Reddy SN, Pyeritz RE, Trerotola SO: A survey of pulmonary artery malformation screening, management, and follow-up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. Cardiovasc Intervent Radiol 2017 Feb 10 doi: 10.1007/s00270-017-1604-6. : 2017.
Siddiqi HK, Bossone E, Pyeritz RE, Eagle KA: Chronobiology of acute aortic syndromes. Heart Failure Clin 2017;13:697-701. PMID: 28865779 : 2017.
Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, Pyeritz RE, on behalf of the GenTAC and IRAD Investigators: Chronobiology of acute aortic dissection in the Marfan syndrome. Am J Cardiol 2017;119(5):785-9. PMID: 28065489 : 2017.
Whitehead KJ, Sautter NB, McWilliams JP, Chakinala MM, Merlo CA, Johnson MH, James M, Everett EM, Clancy MS, Faughnan ME, Oh SP, Olitsky SE, Pyeritz RE, Gossage JR: Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. JAMA. 316 (9): 943-951,2016.
Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M; GenTAC Investigators: Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
(GenTAC). J Am Heart Assoc 5 : 8,2016.
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Academic Contact Information
Division of Translational Medicine and Human Genetics
University of Pennsylvania School of Medicine
11-133 Smilow Center for Translational Research, 3400 Civic Center Blvd
Philadelphia,
PA
19104-4283
Phone: 215-662-4740
Patient appointments: 800-789-7366