Long Term Survival of Heritable Pulmonary Arterial Hypertension Associated with Hereditary Hemorrhagic Telangiectasia: A Case Series

被引:0
作者
Jamindar, Parth [1 ]
Pope, Michael [2 ]
Gossage, James [1 ]
机构
[1] Augusta Univ, Div Pulm Crit Care & Sleep Med, Med Ctr, Augusta, GA 30912 USA
[2] Augusta Univ, Med Ctr, Div Internal Med, Augusta, GA 30912 USA
关键词
hereditary hemorrhagic telangiectasia; pulmonary hypertension; pulmonary arterial hypertension; right heart catheterization;
D O I
10.3390/jcm13010141
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Hereditary hemorrhagic telangiectasia (HHT) is a hereditary disease characterized by recurrent epistaxis, mucocutaneous telangiectasias, and visceral arteriovenous malformations. Multiple genetic mutations have been linked to this rare disease, including ENG, ALK1 (ACVRL1), and MADH4. Pulmonary hypertension is a potential complication of HHT, with the most common phenotypes being World Health Organization (WHO) group 1 heritable pulmonary arterial hypertension (PAH), which is typically associated with ALK1 mutation; WHO group 2 pulmonary hypertension due to high output heart failure from hepatic arteriovenous malformations and/or anemia; and WHO group 2 due to high pulmonary artery wedge pressure. There is scarce evidence to help guide treatment of heritable PAH in HHT, and observational literature suggests that patients with HHT and heritable PAH have a worse prognosis compared to patients with idiopathic PAH. We describe the diagnosis, pulmonary hemodynamics, and detailed treatment courses of three patients with ALK1-associated HHT and PAH, who all exhibited objective clinical improvement with parenteral prostacyclins and oral agents.
引用
收藏
页数:8
相关论文
共 50 条
  • [41] HEREDITARY HEMORRHAGIC TELANGIECTASIA ASSOCIATED WITH MULTIPLE PULMONARY ARTERIOVENOUS-MALFORMATIONS AND JUVENILE POLYPOSIS
    SCHUMACHER, B
    FRIELING, T
    BORCHARD, F
    HENGELS, KJ
    ZEITSCHRIFT FUR GASTROENTEROLOGIE, 1994, 32 (02): : 105 - 108
  • [42] Pulmonary Arteriovenous Malformations Are Associated with Silent Brain Infarcts in Hereditary Hemorrhagic Telangiectasia Patients
    Brinjikji, Waleed
    Nasr, Deena M.
    Wood, Christopher P.
    Iyer, Vivek N.
    CEREBROVASCULAR DISEASES, 2017, 44 (3-4) : 179 - 185
  • [43] Pregnancy With Uterine Vascular Malformations Associated With Hemorrhagic Hereditary Telangiectasia: A Case Report
    Dahlgren, Leanne S.
    Effer, Sidney B.
    McGillivray, Barbara C.
    Pugash, Denise J.
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA, 2006, 28 (08) : 720 - 723
  • [44] Regression of HIV-associated pulmonary arterial hypertension and long-term survival during antiretroviral therapy
    Speich, R
    Jenni, R
    Opravil, M
    Jaccard, R
    SWISS MEDICAL WEEKLY, 2001, 131 (45-46) : 663 - 665
  • [45] Successful Lung Transplantation in a Case With Diffuse Pulmonary Arteriovenous Malformations and Hereditary Hemorrhagic Telangiectasia
    Fukushima, H.
    Mitsuhashi, T.
    Oto, T.
    Sano, Y.
    Kusano, K. F.
    Goto, K.
    Okazaki, M.
    Date, H.
    Kojima, Y.
    Yamagishi, H.
    Takahashi, T.
    AMERICAN JOURNAL OF TRANSPLANTATION, 2013, 13 (12) : 3278 - 3281
  • [46] Pulmonary Arterial Hypertension in the Elderly-Clinical Characteristics and Long-Term Survival
    Shimony, Avi
    Fox, Benjamin D.
    Afilalo, Jonathan
    Rudski, Lawrence G.
    Hirsch, Andrew
    Langleben, David
    LUNG, 2012, 190 (06) : 645 - 649
  • [47] Diffuse Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia Long-term Results of Embolization According to the Extent of Lung Involvement
    Lacombe, Pascal
    Lagrange, Christine
    Beauchet, Alain
    El Hajjam, Mostafa
    Chinet, Thierry
    Pelage, Jean-Pierre
    CHEST, 2009, 135 (04) : 1031 - 1037
  • [48] Long-Term Survival of Patients with Pulmonary Arterial Hypertension at a Single Center in Taiwan
    Wang, Le-Yung
    Lee, Kuang-Tso
    Lin, Chia-Pin
    Hsu, Lung-An
    Wang, Chun-Li
    Hsu, Tsu-Shiu
    Ho, Wan-Jing
    ACTA CARDIOLOGICA SINICA, 2017, 33 (05) : 498 - 509
  • [49] Pulmonary Arterial Hypertension in the Elderly-Clinical Characteristics and Long-Term Survival
    Avi Shimony
    Benjamin D. Fox
    Jonathan Afilalo
    Lawrence G. Rudski
    Andrew Hirsch
    David Langleben
    Lung, 2012, 190 : 645 - 649
  • [50] Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: a case report and review of the literature
    Delaney, H. M.
    Rooks, V. J.
    Wolfe, S. Q.
    Sawyer, T. L.
    JOURNAL OF PERINATOLOGY, 2012, 32 (08) : 642 - 644