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
  • [11] Pulmonary Arterial Hypertension in a Patient With Hereditary Hemorrhagic Telangiectasia
    Raimondi, Alejandro
    Blanco, Isabel
    Pomares, Xavier
    Albert Barbera, Joan
    ARCHIVOS DE BRONCONEUMOLOGIA, 2013, 49 (03): : 119 - 121
  • [12] Case report: Pulmonary arterial hypertension in ENG-related hereditary hemorrhagic telangiectasia
    Liu, Dong
    Xu, Feiya
    Gao, Qian
    Zhai, Zhenguo
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2022, 9
  • [13] Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review
    Mathavan, Akash
    Mathavan, Akshay
    Reddy, Renuka
    Jones, Kirk
    Eagan, Christina
    Alnuaimat, Hassan
    Ataya, Ali
    PULMONARY CIRCULATION, 2023, 13 (04)
  • [14] A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia A case report
    Ye, Fanhao
    Jiang, Wenbing
    Lin, Wei
    Wang, Yi
    Chen, Hao
    Zou, He
    Huang, Shiwei
    Zhu, Ning
    Han, Sisi
    MEDICINE, 2020, 99 (31)
  • [15] Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report
    Wu, Jian
    Yuan, Yuan
    Wang, Xin
    Shao, Dong-Ying
    Liu, Li-Guo
    He, Jian
    Li, Peng
    WORLD JOURNAL OF CLINICAL CASES, 2021, 9 (13) : 3079 - 3089
  • [16] A rare clinical case of the patient with pulmonary hypertension associated with hereditary hemorrhagic telangiectasia. Case report
    Kasparova, Anna M.
    Valieva, Zarina S.
    Martynyuk, Tamila, V
    TERAPEVTICHESKII ARKHIV, 2022, 94 (04) : 538 - 543
  • [17] A case report of limitation of transcatheter hepatic arterial embolization for hereditary hemorrhagic telangiectasia type 2 with pulmonary arterial hypertension
    Nemoto, Nobuki
    Inami, Takumi
    Onozawa, Shiro
    Kohno, Takashi
    Nagahama, Kiyotaka
    Soejima, Kyoko
    Hisamatsu, Tadakazu
    INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2024, 119
  • [18] Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia
    Vorselaars, Veronique M. M.
    Hosman, Anna E.
    Westermann, Cornelis J. J.
    Snijder, Repke J.
    Mager, Johannes J.
    Goumans, Marie-Jose
    Post, Marco C.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2018, 19 (10)
  • [19] Pulmonary Hypertension in a Large Cohort with Hereditary Hemorrhagic Telangiectasia
    Vorselaars, Veronique
    Velthuis, Sebastiaan
    van Gent, Marco
    Westermann, Cornelis
    Snijder, Repke
    Mager, Johannes
    Post, Martijn
    RESPIRATION, 2017, 94 (03) : 242 - 250
  • [20] ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension
    Eyries, M.
    Coulet, F.
    Girerd, B.
    Montani, D.
    Humbert, M.
    Lacombe, P.
    Chinet, T.
    Gouya, L.
    Roume, J.
    Axford, M. M.
    Pearson, C. E.
    Soubrier, F.
    CLINICAL GENETICS, 2012, 82 (02) : 173 - 179