Pulmonary arterial hypertension of variable degree is commonly associated with adult congenital heart disease. Depending on size and location of the underlying cardiac defect as well as on repair status, pulmonary arterial hypertension may present with or without reversed shunting and associated cyanosis (ie, Eisenmenger syndrome). We review available data on etiology, clinical presentation, prognosis, and management strategies of pulmonary arterial hypertension in adult patients with congenital heart disease. In addition, we discuss the numerous complications associated with Eisenmenger syndrome, representing a multisystem disorder. Finally, we present general management strategies and emerging disease-targeting therapies.

Pulmonary Vascular Disease in Adults With Congenital Heart Disease

Traditionally, polycythaemia has been used to identify a group of varied disorders with an increase in circulating red cells that are typified by a persistently raised haematocrit (Hct). Since only the red cell lineage is involved, the term erythrocytosis has more validity and will be used throughout this article. Polycythaemia will be retained in relation to the clonal disorder, polycythaemia vera (PV), in which three cell lineages are involved.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2141.2005.05535.x

Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis

For this article, the literature on the pathophysiology, clinical features, natural history, prognosis, and management of the Eisenmenger syndrome in adults was reviewed. English-language articles from 1966 to the present were identified through a search of the MEDLINE database by using the terms Eisenmenger, congenital heart disease, and pulmonary hypertension. Selected cross-referenced articles were also included. Articles on the pathophysiology, clinical presentation, evaluation, natural history, complications, and treatment of the Eisenmenger syndrome in adults were selected, and descriptive and analytical data relevant to the practicing physician were manually extracted. The Eisenmenger syndrome is characterized by elevated pulmonary vascular resistance and right-to-left shunting of blood through a systemic-to-pulmonary circulation connection. Most patients with the syndrome survive for 20 to 30 years. The hemostatic changes associated with the syndrome may lead to thromboembolic events, cerebrovascular complications, or the hyperviscosity syndrome. Erythrocytosis is present in most patients, but excessive phlebotomy may cause microcytosis and exacerbate the symptoms of hyperviscosity. Other complications associated with the Eisenmenger syndrome include hemoptysis, gout, cholelithiasis, hypertrophic osteoarthropathy, and decreased renal function. Pregnancy or noncardiac surgery is associated with a high mortality rate in patients with the Eisenmenger syndrome. Because most pediatric patients with the Eisenmenger syndrome survive to adulthood, primary care physicians should have a thorough understanding of the syndrome; its associated complications; and medical and surgical management, especially with regard to the appropriate timing of phlebotomy and lung or heart-lung transplantation. In addition, patients with the syndrome should undergo routine follow-up at a tertiary care center that has physicians and nurses with special expertise in congenital heart disease. In patients with the Eisenmenger syndrome who are pregnant or require noncardiac surgery, a multidisciplinary approach should be used to reduce the excessive mortality associated with these conditions.

The Eisenmenger Syndrome in Adults

More than a dozen primary hematologic disorders have been associated with ischemic stroke. Inherited deficiencies of antithrombin III, protein C, and protein S have been linked with stroke in case reports; optimal screening requires functional as well as antigenic assays. Antiphospholipid antibodies and lupus anticoagulants are the most frequently identified acquired states associated with ischemic stroke. Polycythemia vera, sickle cell anemia, sickle-C disease, and essential thrombocythemia are the major disorders of formed blood elements causing stroke. Special, step-wise screening for occult prothrombotic entities in stroke patients is recommended for young persons with stroke of uncertain cause, for those with prior venous thrombosis, for those with a family history of unusual thrombosis, and for those with no other explanation for recurrent stroke. Acquired, perhaps transient, abnormalities of platelets, coagulation inhibition, and fibrinolysis may contribute importantly to brain ischemia in synergy with other mechanisms, but at present these remain ill-defined. The contribution of prothrombotic diatheses to stroke is probably underrecognized and warrants further investigation.

JohnS. Child

Papers

Chronic hypoxaemia and decompensated erythrocytosis in cyanotic congenital heart disease