Seminars in respiratory and critical care medicine
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Tremendous progress has been made in understanding the genetics of hereditable pulmonary arterial hypertension (HPAH) since its description in the 1950s. Germline mutations in the gene coding bone morphogenetic receptor type 2 ( BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). ⋯ The variable clinical expression makes genetic counseling complex because the majority of carriers of a BMPR2 mutation will not be diagnosed with the disease. This issue will become increasingly important, as clinical testing for BMPR2 mutations is now available for the evaluation of patients and family members with HPAH and IPAH.
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Semin Respir Crit Care Med · Aug 2009
ReviewPulmonary hypertension in chronic obstructive pulmonary disease and interstitial lung diseases.
Pulmonary hypertension (PH) is a common complication of chronic respiratory diseases and particularly of chronic obstructive pulmonary disease (COPD) and interstitial lung diseases (ILD). Owing to its frequency COPD is by far the most common cause of PH. It is generally a mild to moderate PH, pulmonary artery mean pressure (PAP) usually ranging between 20 and 25 mm Hg, but PH may worsen during exercise, sleep, and particularly during exacerbations of the disease. ⋯ In ILD the presence of PH predicts a poor prognosis. The treatment of PH relies on long-term oxygen therapy. "New" vasodilator drugs have rarely been used in COPD and ILD patients exhibiting severe PH. In advanced ILD the presence of PH is a supplemental argument for considering lung transplantation.
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Semin Respir Crit Care Med · Aug 2009
ReviewIdiopathic pulmonary arterial hypertension and pulmonary veno-occlusive disease: similarities and differences.
Pulmonary veno-occlusive disease (PVOD) is a rare disorder and can be misdiagnosed as idiopathic pulmonary arterial hypertension (iPAH). PVOD and iPAH often share a similar clinical presentation, genetic background, and hemodynamic profile. PVOD accounts for 5 to 10% of cases initially considered as iPAH. ⋯ Therefore, a noninvasive diagnostic approach using HRCT of the chest, arterial blood gases, pulmonary function tests, and bronchoalveolar lavage may be helpful to detect PVOD. In contrast with iPAH, PVOD is characterized by an even poorer prognosis and the possibility of developing severe pulmonary edema with specific PAH therapy. Lung transplantation remains the treatment of choice, but cautious use of specific PAH therapy can be helpful in select patients while awaiting this intervention.
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Semin Respir Crit Care Med · Aug 2009
ReviewPulmonary arterial hypertension in congenital heart diseases.
Pulmonary hypertension complicates the course of many children and adults with congenital heart diseases (CHDs). The increase in pulmonary pressure associated with CHD is secondary to either increased pulmonary blood flow or increased postcapillary pressures. ⋯ The recent introduction of targeted therapies in other forms of pulmonary arterial hypertension has led to a renewed interest in pulmonary hypertension associated with CHD and this particularly for the most advanced form, the so-called Eisenmenger syndrome (ES). This review summarizes the current knowledge on pulmonary hypertension associated with CHD, focusing on the pathophysiology and treatment of ES.
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Semin Respir Crit Care Med · Aug 2009
ReviewPulmonary arterial hypertension complicating connective tissue diseases.
Pulmonary arterial hypertension (PAH) may complicate diverse connective tissue diseases (CTDs) such as systemic sclerosis (SSc), systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and mixed CTD (MCTD) and is an important cause of morbidity and mortality in this context. From a histological standpoint, the pulmonary vascular lesions in PAH complicating CTD are similar to those observed in idiopathic PAH (IPAH). However, prognosis and responsiveness to therapy are distinctly worse in PAH associated with CTD. ⋯ Although PAH may involve other CTDs, data are more limited (primarily small, uncontrolled series and case reports). Treatment strategies for PAH associated with CTD are similar to but are distinctly less effective than those for IPAH. Lung transplantation may be offered for a subset of patients with CTD-associated PAH, but results are less favorable than for IPAH due to comorbidities and specific complications associated with CTD (e.g., esophageal involvement, aspiration with SSc).