Preventing disease progression in Eisenmenger syndrome

ABSTRACT

Introduction: Eisenmenger syndrome describes a condition in which a congenital heart defect has caused severe pulmonary vascular disease, resulting in reversed (right-left) or bidirectional shunting and chronic cyanosis.

Areas covered: In this paper, the progression of congenital heart defects to Eisenmenger syndrome, including early screening, diagnosis and operability are covered. The mechanisms of disease progression in Eisenmenger syndrome and management strategies to combat this, including the role of pulmonary arterial hypertension therapies, are also discussed.

Expert opinion/commentary: Patients with congenital heart disease (CHD) are at increased risk of developing pulmonary arterial hypertension with Eisenmenger syndrome being its extreme manifestation. All CHD patients should be regularly assessed for pulmonary hypertension. Once Eisenmenger syndrome develops, shunt closure should be avoided. The clinical manifestations of Eisenmenger syndrome are driven by the systemic effects of the pulmonary hypertension, congenital defect and long-standing cyanosis. Expert care is essential for avoiding pitfalls and preventing disease progression in this severe chronic condition, which is associated with significant morbidity and mortality. Pulmonary arterial hypertension therapies have been used alongside supportive care to improve the quality of life, exercise tolerance and the outcome of these patients, although the optimal timing for their introduction and escalation remains uncertain.

KEYWORDS:

• Pulmonary arterial hypertension
• congenital heart defects
• Eisenmenger syndrome
• cyanosis
• pulmonary vascular disease
• targeted therapies

Article highlights

• Eisenmenger syndrome (ES) is the extreme manifestation of pulmonary arterial hypertension (PAH) related to a congenital heart defect. It is characterized by shunt reversal and chronic cyanosis, which, in combination with the severe PAH and congenital heart disease (CHD) result in multiorgan involvement.

• CHD repair at early age can prevent pulmonary vascular disease well before ES is established. Once ES is established, CHD repair should be avoided. Early diagnosis is responsible for the reduction in the prevalence of ES in developed countries.

• In order to prevent disease progression in patients with ES, access to specialist multi-disciplinary team-based care is paramount, in tertiary centers where adult congenital heart disease and pulmonary hypertension expertise is available.

• ES care starts with avoiding pitfalls and past practices, such as routine venesection, that can be detrimental. Other stressors, such as pregnancy, should also be discouraged and essential elective surgery should be undertaken in expert centers to minimize risks.

• The use of pulmonary arterial hypertension therapies is nowadays established in ES. Such therapies can result in an improvement in functional status and hemodynamics, with some retrospective studies suggesting a survival benefit.

• While ES is becoming rare in developed countries, it remains prevalent in the developing world. Moreover, other types of PAH related to CHD, especially PAH after CHD repair, are increasing in prevalence in developed countries.

Abbreviations

ASD, atrial septal defect; CHD, congenital heart disease; ES, Eisenmenger syndrome; PAH, pulmonary arterial hypertension; PAH-CHD, pulmonary arterial hypertension associated with congenital heart disease; PDA, patent ductus arteriosus; PH, pulmonary hypertension; PVD, pulmonary vascular disease; PVR(i), pulmonary vascular resistance (index); Qp, pulmonary blood flow; Qs, systemic blood flow; SVR, systemic vascular resistance; VSD, ventricular septal defect; WHO, World Health Organization; WU, Wod Units.

Declaration of interest

K Dimopoulos has received nonfinancial support from Actelion Pharmaceuticals; and has been a consultant to and received grants and personal fees from Janssen Pharmaceuticals, Actelion Pharmaceuticals, Pfizer, GlaxoSmithKline, and Bayer/MSD. A Constantine has received educational grants, personal fees and non-financial support from Janssen Pharmaceuticals. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was no funded.