From vascular biology to vascular medicine

Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese, Matteo Bertelli
2018 The EuroBiotech Journal  
Cardiovascular disorders include various conditions characterized by morphological and functional defects of the heart and vascular system. Molecular biology techniques (in particular DNA sequencing) have recently offered new insights into the etiology of cardiovascular defects, revealing their association with germline as well as somatic mutations. Genetic tests are evaluated on the basis of their analytical and clinical validity, clinical utility, and ethical, legal and social implications.
more » ... xt generation sequencing is so far the best approach for molecular diagnosis of congenital heart defects and vascular anomalies, the genetic and phenotypic heterogeneity of which makes them difficult to diagnose. Understanding the molecular causes of congenital heart defects and vascular anomalies has permitted clinical trials of drugs targeting affected genes and pathways. The articles in this Special Issue aim to provide guidance for those concerned with diagnosis and research in the field of cardiovascular defects. The approach to genetic testing is discussed.
doi:10.2478/ebtj-2018-0023 fatcat:6ascq2tlyjaglju73ymhw7vkby