Adults (18-65), Geriatrics (65+)
Adults (18-65), Geriatrics (65+)
Recognized by America's Top Doctors, 2007 - 2010, and 2012 - 2018
Recognized by Best Doctors in America 2005 - 2018
Recognized annually in Philadelphia magazine's Top Docs issue from 2004 to 2019
Internal Medicine, 1978
Medical Genetics - Clinical Genetics, 1982
Perelman Center for Advanced Medicine
South Pavilion, 1st Floor
3400 Civic Center Boulevard
Philadelphia, PA 19104
A facility of the Hospital of the University of Pennsylvania
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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).
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.
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.
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.
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.
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.
Division of Translational Medicine and Human GeneticsUniversity of Pennsylvania School of Medicine 11-133 Smilow Center for Translational Research, 3400 Civic Center Blvd
Phone: (215) 662-4740
Patient appointments: 800-789-7366