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The Intersection of Genes and EnvironmentGenetics and Toxins in Pulmonary Hypertension: Development of Pulmonary Arterial Hypertension in a Patient With Hereditary Hemorrhagic Telangiectasia and Stimulant Exposure

Estela Ayala, MD; Kristina T. Kudelko, MD; Francois Haddad, MD; Roham T. Zamanian, MD; Vinicio de Jesus Perez, MD
Author and Funding Information

From the Division of Pulmonary and Critical Care Medicine (Drs Ayala, Kudelko, Zamanian, and de Jesus Perez), and the Division of Cardiovascular Medicine (Dr Haddad), Stanford School of Medicine; and Vera Moulton Wall Center for Pulmonary Vascular Disease (Drs Kudelko, Haddad, Zamanian, and de Jesus Perez), Stanford, CA.

Correspondence to: Vinicio de Jesus Perez, MD, Stanford University Hospital, 300 Pasteur Dr, H3142 MC 5236, Stanford, CA 94305; e-mail: vdejesus@stanford.edu


Funding/Support: Dr Zamanian has received support from United Therapeutics Corporation; Actelion Pharmaceuticals, Inc; and Gilead. Dr de Jesus Perez receives grant support from the National Institutes of Health [Grant NIH K12 HL089989-04].

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.


© 2012 American College of Chest Physicians


Chest. 2012;141(6):1598-1600. doi:10.1378/chest.11-1402
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Pulmonary arterial hypertension (PAH) is a rare complication of hereditary hemorrhagic telangiectasia (HHT). The triggers that promote the development of PAH in HHT remain poorly understood. We present the case of a 45-year-old woman with decompensated right-sided heart failure secondary to newly diagnosed PAH. The clinical diagnosis of HHT was confirmed on the basis of recurrent spontaneous epistaxis, multiple typical mucocutaneous telangiectasia, and the presence of pulmonary arteriovenous malformation. There was also a suggestive family history. The patient was discovered to have active and extensive stimulant abuse in addition to HHT. We concluded that there may be a temporal relationship between exposure to stimulants and development of PAH in a host with underlying gene mutation. This case highlights the paradigm of PAH development after environmental exposure in a genetically susceptible host.

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