PURPOSE OF REVIEW: The purpose of this study is to present the latest advances and recommendations in the diagnosis and treatment of pulmonary vascular complications associated with hereditary haemorrhagic telangiectasia (HHT): pulmonary arteriovenous malformations (PAVMs), pulmonary arterial hypertension (PAH), pulmonary hypertension associated with high output cardiac failure or liver vascular malformations, haemoptysis, haemothorax and thromboembolic disease. RECENT FINDINGS: Transthoracic contrast echocardiography has been validated as a screening tool for PAVM in patients with suspected HHT. Advancements in genetic testing support its use in family members at risk as a cost-effective measure. Therapy with bevacizumab in patients with high output cardiac failure and severe liver AVMs showed promising results. PAH tends to be more aggressive in HHT type 2 patients. SUMMARY: Patients suffering from this elusive disease should be referred to HHT specialized centres to ensure a standardized and timely approach to diagnosis and management.
PURPOSE OF REVIEW: The purpose of this study is to present the latest advances and recommendations in the diagnosis and treatment of pulmonary vascular complications associated with hereditary haemorrhagic telangiectasia (HHT): pulmonary arteriovenous malformations (PAVMs), pulmonary arterial hypertension (PAH), pulmonary hypertension associated with high output cardiac failure or liver vascular malformations, haemoptysis, haemothorax and thromboembolic disease. RECENT FINDINGS: Transthoracic contrast echocardiography has been validated as a screening tool for PAVM in patients with suspected HHT. Advancements in genetic testing support its use in family members at risk as a cost-effective measure. Therapy with bevacizumab in patients with high output cardiac failure and severe liver AVMs showed promising results. PAH tends to be more aggressive in HHT type 2 patients. SUMMARY:Patients suffering from this elusive disease should be referred to HHT specialized centres to ensure a standardized and timely approach to diagnosis and management.
Authors: Sachin S Saboo; Murthy Chamarthy; Sanjeev Bhalla; Harold Park; Patrick Sutphin; Fernando Kay; John Battaile; Sanjeeva P Kalva Journal: Cardiovasc Diagn Ther Date: 2018-06
Authors: Veronique Mm Vorselaars; Sebastiaan Velthuis; Repke J Snijder; Jan Albert Vos; Johannes J Mager; Martijn C Post Journal: World J Cardiol Date: 2015-05-26
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Authors: V M M Vorselaars; S Velthuis; M P Huitema; A E Hosman; C J J Westermann; R J Snijder; J J Mager; M C Post Journal: Neth Heart J Date: 2018-04 Impact factor: 2.380