Diagnosis of Familial Heart Disease

Today, thanks to advances in molecular diagnostics, it is currently possible to identify the underlying genetic cause of many of these diseases. This genetic diagnosis makes it possible to confirm diagnostic suspicions, to assess the risk of adverse events in some cases, and to rule out whether a family member is a carrier of the genetic predisposition. 

A comprehensive assessment is essential in all cases. This includes genetic information with a clinical assessment to show the degree of individual affectation. For this, and depending on the pathology, we use diagnostic tests that include imaging techniques (echocardiogram, resonance, tomography), stress tests, prolonged cardiac rhythm monitoring, electrophysiological studies, heart biopsy, etc.