TITLE

Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1

AUTHOR(S)
Mache, C. J.; Gamillscheg, A.; Popper, H. H.; Haworth, S. G.
PUB. DATE
January 2008
SOURCE
Thorax;Jan2008, Vol. 63 Issue 1, p85
SOURCE TYPE
Academic Journal
DOC. TYPE
Case Study
ABSTRACT
The case history is presented of a male infant who was thought to have idiopathic pulmonary arterial hypertension (PAH) at 3 months of age. Subsequently the PAH decreased unexpectedly and diffuse pulmonary arteriovenous malformations (PAVMs) were seen at 6.9 years of age for the first time. Hereditary haemorrhagic telangiectasia type 1 (HHT1) related to an endoglin mutation was diagnosed. At 10.3 years of age a lung biopsy showed diffuse PAVMs as well as pulmonary arteriopathy with medial hypertrophy. This is the first case of HHT1 presenting with PAH at such a young age. The subsequent decrease in pulmonary arterial pressure (PAP) was probably caused by the development of PAVMs. In the presence of PAVMs, measurement of the PAP may underestimate the extent of PAH-related vasculopathy.
ACCESSION #
28681908

 

Related Articles

  • Pulmonary Interstitial Glycogenosis Associated With Pulmonary Hypertension and Hypertrophic Cardiomyopathy. Alkhorayyef, Abdullah; Ryerson, Lindsay; Chan, Alicia; Phillipos, Ernest; Lacson, Atilano; Adatia, Ian // Pediatric Cardiology;Feb2013, Vol. 34 Issue 2, p462 

    A neonate with pulmonary interstitial glycogenosis, pulmonary hypertension, and hypertrophic cardiomyopathy is described. The fatal outcome for this patient contrasts with the reported favorable prognosis associated with isolated pulmonary interstitial glycogenosis. To the authors' knowledge,...

  • Ortner Syndrome in Infants. ZAKI, SYED AHMED; ASIF, SHUJAATH; SHANBAG, PREETI // Indian Pediatrics;Apr2010, Vol. 47 Issue 4, p351 

    Ortner syndrome or cardiovocal syndrome refers to hoarseness of voice due to recurrent laryngeal nerve paralysis secondary to cardiovascular disease. We present three cases of Ortner syndrome in infants with congenital heart disease. All the three cases had moderate to severe pulmonary...

  • Idiopathic and Heritable Pulmonary Hypertension in Children: New Insights into Causes, Evaluation, and Treatment. Mullen, Mary P. // Advances in Pulmonary Hypertension;Summer2011, Vol. 10 Issue 3, p104 

    The article explores the causes and treatment of idiopathic and heritable pulmonary arterial hypertension (PAH) in children. It offers information about idiopathic PAH including the prevalence of the disease as well as genetic causes. It also offers information regarding hereditary hemorrhagic...

  • Krüppel-like factor 5 contributes to pulmonary artery smooth muscle proliferation and resistance to apoptosis in human pulmonary arterial hypertension. Courboulin, Audrey; Tremblay, Véronique L.; Barrier, Marjorie; Meloche, Jolyane; Jacob, Maria Helena; Chapolard, Mathilde; Bisserier, Malik; Paulin, Roxane; Lambert, Caroline; Provencher, Steeve; Bonnet, Sébastien // Respiratory Research;Sep2011, Vol. 12 Issue 9, p1 

    Background: Pulmonary arterial hypertension (PAH) is a vascular remodeling disease characterized by enhanced proliferation of pulmonary artery smooth muscle cell (PASMC) and suppressed apoptosis. This phenotype has been associated with the upregulation of the oncoprotein survivin...

  • Chronic Thrombotic Obstruction of Major Pulmonary Arteries. Moser, Kenneth M.; Spragg, Roger G.; Utley, Joseph; Daily, Pat O. // Annals of Internal Medicine;Sep83, Vol. 99 Issue 3, p299 

    Examines patients with pulmonary hypertension associated with chronic thrombotic obstruction of major pulmonary arteries. Clinical features of patients with pulmonary hypertension; Diagnosis of the disease; Results of thromboendarterectomy.

  • Primary Pulmonary Hypertension Treated with Oral Phentolamine. Ruskin, Jeremy N.; Hutter Jr., Adolph M. // Annals of Internal Medicine;May79, Vol. 90 Issue 5, p772 

    Presents information on a study which evaluated the treatment trial of a patient with symptomatic primary pulmonary artery hypertension with parenteral and oral phentolamine. Information on primary pulmonary artery hypertension; Medical history of the patient; Results and discussion.

  • New insights into the treatment of pulmonary arterial hypertension. Clavecilla, Stella Q. // Formulary;Mar2003, Vol. 38 Issue 3, p150 

    Provides alternative insights into the treatment of pulmonary arterial hypertension. Etiology and pathophysiology; Diagnostic procedures; Disease management; Therapeutic considerations.

  • Present and Prospective Pharmacotherapies in Pulmonary Arterial Hypertension. Johnson, Jennifer A.; Hemnes, Anna R. // Clinical Medicine: Therapeutics;2009, Issue 1, p1307 

    Pulmonary arterial hypertension (PAH) is a progressive disease leading to obstruction of the small pulmonary arteries. Currently, there are eight approved medications for PAH. This review article focuses on the mechanisms, clinical trials, efficacy, and safety profiles of each of the PAH...

  • Editorial [Chronic Thromboembolic Pulmonary Hypertension-Therapeutic Options]. Surani, Salim // Current Respiratory Medicine Reviews;2006, Vol. 2 Issue 4, p355 

    The pulmonary circulation is normally a low-pressure, low resistance circuit due to its large cross-sectional area and high capacitance. Pulmonary hypertension is defined as a mean pulmonary arterial pressure >25 mm Hg at rest or 30 mm Hg at exercise at catheterization. Chronic thromboembolic...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sign out of this library

Other Topics