Renin–angiotensin–aldosterone system genotype and serum BNP in a contemporary cohort of adults late after Fontan palliation

Management of People With a Fontan Circulation: a Cardiac Society of Australia and New Zealand Position statement

“…Similarly, ventilatory inefficiency during exercise (increased minute ventilation relative to carbon dioxide production [VE/VCO 2 ]) is an independent prognostic marker in patients with non-CHD HF and acyanotic CHD, but it is almost universally present in cyanosed patients and lacks prognostic value [269]. Elevated serum BNP level has been associated with late Fontan failure and mortality [270], but no threshold has been defined for accurate diagnosis of HF, and its accuracy for predicting short-term mortality remains untested (see also section 3.1). Despite these uncertainties, cardiopulmonary exercise testing and serum BNP measurement are recommended for objectively tracking each patient's individual trajectory.…”

Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes

“…Some of these will be related to pharmacogenomic factors, which affect a patient's biologic response to specific drugs. The studies examining the effects of renin‐angiotensin‐aldosterone system pathway genetic variation (and targeting of that pathway with angiotensin‐converting enzyme inhibition) as well those studies assessing the effect of adrenergic pathway variation on clinical outcomes in patients with CHD indicate that therapeutic approaches tailored to specific genetic profiles may help improve outcomes. This type of precision medicine approach has been applied in other medical settings and is just beginning to be considered for the care of patients with CHD.…”

“…Genetic variants associated with increased activation of the renin-angiotensin-aldosterone system were determined to be associated with multiple outcomes, including the reverse remodeling that occurs after the second-stage palliative surgery for patients with single-ventricle CHD 113 and is associated with impaired diastolic function after the third stage of repair for single-ventricle CHD, the Fontan operation. 114 A vascular endothelial growth factor A allele linked to enhanced vascular endothelial growth factor A expression was associated with preserved ventricular function 115 and postoperative survival 116 in patients requiring CHD surgery in infancy. Lower event-free survival has also been associated with adrenergic signaling pathway variants that increase catecholamine release or sensitivity in patients with single-ventricle CHD.…”

Long Term Consequences of the Fontan Procedure and How to Manage Them

“…[37]. BNP elevation has been shown to be a predictor of Fontan failure, mortality, and morbidity in adult patients in multiple studies [38,39]. Hyponatremia has also been shown to be very common in adults with congenital heart disease (ACHD) and carries a high risk of mortality [40] In Sildenafil was the drug most commonly examined [42].…”