Eisenmenger syndrome: diagnosis, prognosis and clinical management

Abstract

Eisenmenger syndrome (ES) represents the most severe phenotype of pulmonary arterial hypertension (PAH) associated with congenital heart disease (CHD) and occurs in patients with large unrepaired shunts. Despite early detection of CHD and major advances in paediatric cardiac surgery, ES is still prevalent and requires a multidisciplinary approach by adult CHD experts in tertiary centres. Central cyanosis is the primary clinical manifestation leading to secondary erythrocytosis and various multiorgan complications that increase morbidity and affect quality of life. Close follow-up is needed to early diagnose and timely manage these complications. The primary goal of care is to maintain patients’ fragile stability. Although the recent use of advanced PAH therapies has substantially improved functional capacity and increased life expectancy, long-term survival remains poor. Progressive heart failure, infectious diseases and sudden cardiac death comprise the main causes of death in patients with ES. Impaired exercise tolerance, decreased arterial oxygen saturation, iron deficiency, pre-tricuspid shunts, arrhythmias, increased brain natriuretic peptide, echocardiographic indices of right ventricular dysfunction and hospitalisation for heart failure predict mortality. Endothelin receptor antagonists are used as first-line treatment in symptomatic patients, while phosphodiesterase-5 inhibitors may be added. Due to the lack of evidence, current guidelines do not provide a clear therapeutic strategy regarding treatment escalation. Additional well-designed trials are required to assess the comparative efficacy of various PAH agents and the benefit of combination therapy. Finally, the development of a risk score is of utmost importance to guide clinical therapy.

Treatment of adults with Eisenmenger syndrome—state of the art in the 21st century: a short overview

“…While the data is less robust for this substance, positive effects have also been observed with Sildenafil therapy (2,31). At most centers, endothelin receptor antagonist therapy remains the first choice for symptomatic Eisenmenger patients (especially those in NYHA class III and those deteriorating over time).…”

Evaluation and Management of Pulmonary Arterial Hypertension in Congenital Heart Disease

“…Finally, when the PVR is higher than the SVR, the shunt reverses to right-to-left, leading to cyanosis and ES (Figure 1 ). 11 , 12 Chronic cyanosis leads to erythrocytosis, coagulopathy, thrombocytopenia, and clubbing among other clinical features of ES. In these patients, shunt closure is contraindicated because it could lead to acute right ventricular failure and high mortality.…”

Simple equations to predict the effects of veno‐venous ECMO in decompensated Eisenmenger syndrome

“…The latter develops in patients with unrepaired congenital heart disease and chronic left-to-right shunt, with progressive increase in pulmonary vascular resistance and progression towards a predominant right-to-left shunt. 4 Although not classically considered in ES, VV-ECMO could be life-saving during acute decompensation as a bridge to recovery, surgery, or transplantation. [5][6][7] Anticipating the effects of VV-ECMO in decompensated ES could ease the decision to initiate ECMO.…”

“…Physiologically, the same concept could apply to cardiac right‐to‐left shunt, such as in Eisenmenger syndrome (ES). The latter develops in patients with unrepaired congenital heart disease and chronic left‐to‐right shunt, with progressive increase in pulmonary vascular resistance and progression towards a predominant right‐to‐left shunt 4 . Although not classically considered in ES, VV‐ECMO could be life‐saving during acute decompensation as a bridge to recovery, surgery, or transplantation 5–7 .…”