Delayed Diagnosis of Congenital Heart Diseases in Adults: Opportunities for Improving Diagnostic Strategies

(1) Background: In routine clinical practice, CHDs are occasionally diagnosed in adulthood, mostly relatively minor defects that become symptomatic later in life. Less frequently, adults may present with complex CHDs that, due to anatomical variations, remain undiagnosed until adulthood. Another important group comprises patients with previously unrecognized CHDs, particularly those from socioeconomically disadvantaged settings with limited access to healthcare. (2) Body: In adulthood, CHDs often present with nonspecific symptoms suggestive of other cardiovascular conditions (cardiomyopathy or coronary artery disease), including dyspnea, chest discomfort, signs of HF, syncope, palpitations, and paradoxical embolism. The initial manifestation may also be a malignant arrhythmia or sudden cardiac death; therefore, early recognition and diagnosis are crucial. TTE represents the first-line diagnostic modality. Reduced LVEF in young patients, particularly when accompanied by left atrial and right-sided cardiac chamber dilatation, should raise suspicion of an underlying CHD. The diagnostic evaluation may be supplemented by TEE, CMR imaging, and right heart catheterization. Familial forms of CHD and the risk of transmission to offspring have been extensively investigated, particularly for conditions with a strong genetic component, such as BAV. (3) Conclusions: In adult patients with newly diagnosed CHD, accurate recognition of clinical symptoms and completion of an appropriate diagnostic workup are essential for establishing the diagnosis and initiating timely treatment. Furthermore, identification of families at increased genetic risk is important to facilitate targeted genetic panel screening. Future research should focus on developing and validating appropriate screening strategies for the early detection of CHDs in resource-limited regions.