Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms

Abstract

The term inherited cardiovascular disease encompasses a group of cardiovascular diseases (cardiomyopathies, channelopathies, certain aortic diseases, and other syndromes) with a number of common characteristics: they have a genetic basis, a familial presentation, a heterogeneous clinical course, and, finally, can all be associated with sudden cardiac death. The present document summarizes some important concepts related to recent advances in sequencing techniques and understanding of the genetic bases of these diseases. We propose diagnostic algorithms and clinical practice recommendations and discuss controversial aspects of current clinical interest. We highlight the role of multidisciplinary referral units in the diagnosis and treatment of these conditions.

Keywords: Canalopatías; Cardiomyopathies; Channelopathies; Marfan syndrome; Miocardiopatías; Muerte súbita; Sudden cardiac death; Síndrome de Marfan.