Identification of clinically relevant phenotypes in patients with Ebstein anomaly

Abstract

BackgroundEbstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes.HypothesisPhenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors.MethodsA comprehensive cross‐sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out. The most prevalent comorbidities and distinct subgroups within the patient cohort were identified through cluster analysis.ResultsThe most prevalent cardiac comorbidities identified were atrial septal defect (61%), Wolff‐Parkinson‐White syndrome (WPW; 27%), and right ventricular outflow tract obstruction (25%). Cluster analysis showed that patients can be classified into 2 distinct subgroups with defined phenotypes that determine disease severity and survival. Patients in cluster 1 represented a particularly homogeneous subgroup with a milder spectrum of disease, including only patients with WPW and/or supraventricular tachycardia (SVT). Cluster 2 included patients with more diverse cardiovascular comorbidities.ConclusionsThis study represents one of the largest phenotypic characterizations of EA patients reported. The data show that EA is a heterogeneous disease, very frequently associated with cardiovascular and noncardiovascular comorbidities. Patients with WPW and SVT represent a homogeneous subgroup that presents with a less severe spectrum of disease and better survival when adequately managed. This should be considered when searching for genetic causes of EA and in the clinical setting.

The Association of Pulmonary Flow Characteristics With Cardiac Function in Tricuspid Valve Malformation Fetuses

“…EA and TVD are rare CHDs with TR and right heart enlargement 18,30–33 . Although recent advances in prenatal diagnosis and surgical techniques have allowed earlier detection and treatment of this malformation, termination of pregnancy, and perinatal mortality in TVM fetuses remain high 34–36 .…”

“…EA and TVD are rare CHDs with TR and right heart enlargement. 18,[30][31][32][33] Although recent advances in prenatal diagnosis and surgical techniques have allowed earlier detection and treatment of this malformation, termination of pregnancy, and perinatal mortality in TVM fetuses remain high. [34][35][36] It is important to provide accurate information about the severity of fetal TVM, as this may better enable parents to make informed decisions about the pregnancy.…”