Surprising Echo Findings as First Diagnosis of Congenital Heart Disease in Adulthood

Congenital heart defects (AHF) are sometimes not diagnosed until adulthood; either because they only become clinically apparent later in life or were overlooked until then. During routine transthoracic echocardiography (TTE) examination in the cardiology practice or clinic, cardiac abnormalities can be suspected and patients should be referred for further diagnosis to a center with AHF expertise. This requires knowledge of the echocardiographic presentation of AHF. Since the focus of adult cardiology is predominantly on acquired cardiac disease such as dilated or ischemic cardiomyopathy, valve dysfunction, or ventricular dysfunction, dealing with AHF often plays a minor role. Therefore, the expectation regarding congenital cardiac anomalies is not particularly high and the eye for possible - in clinical routine more frequent or rare - cardiac defects often not sharpened. This article presents the most common AHF and their echocardiographic findings to help increase the likelihood of detecting an AHF by TTE in clinical practice.