Project title

Patency of interatrial communications in children - part of The Copenhagen Baby Heart Study - Impact (CBHS-I)

Background

Interatrial communications are present in most newborns, as either patent foramen ovale (PFO), which is a normal remnant of the fetal circulation, or the abnormal atrial septal defect (ASD). It is challenging to distinguish between the two and to identify which communications will persist, and which will close spontaneously. Previously, no standardized method for classification of these communications exist. On this basis, a novel algorithm for classification of interatrial communications in newborns was developed in The Copenhagen Baby Heart Study (CBHS) – a population study focusing on cardiovascular health in newborns (N>25,000). The algorithm was designed in an international collaboration based on echocardiograms from CBHS and classifies interatrial communications into three subtypes of PFO and ASD respectively. The algorithm was subsequently applied on part of the CBHS cohort (N>12,000).

Aim

The present prospective study aims to examine which echocardiographic, clinical, and genetic aspects of PFO and ASD that are associated with the spontaneous closure of some defects and patency of others, as well as their later hemodynamic consequences.

Methods

The study will be completed through follow-up examinations of children from the CBHS cohort at age 4-6 years and includes echocardiography, ECG and blood samples for genetic analyses. The genetic analyses will consist of both a Genome Wide Associations study and a Targeted Next Generation Sequencing study with a panel of genes previously associated with ASD and other cardiac diseases. 1,400 children will be included in the study, corresponding to 200 children with each subtype of PFO and ASD as well as 200 controls.