Recent Studies of Cardiomyopathy Diagnosis

Dear Colleagues,

Nowadays, it is understood that the primary aetiology of a diverse range of cardiomyopathies is genetic, creating thus a new paradigm for targeting treatments on the basis of the underlying molecular cause. In light of this development, numerous disease-causing genes have been linked to the pathogenesis of such diseases over the past four decades, although many causal genes are yet to be identified. Next-generation sequencing (NGS) platforms and chemistries have revolutionised clinical testing capacity in familial cardiomyopathy. Furthermore, by means of whole-exome sequencing, putative new disease-causing genes have been identified to date, some of which have had a considerable clinical impact and are now included in routine diagnostic gene panels. Variant interpretation is still the Achilles’ heel but artificial intelligence (AI) and large-scale NGS population control cohorts are set for this purpose. In addition to this, as from other common genetic disorders, we are witnessing the emerging role of common variations in some forms of genetic cardiomyopathy in which an additive effect of numerous polymorphic loci on cardiac parameters has been highlighted with ad hoc Polygenic Risk Scores (PGR); this may explain phenotypic variability and low rates of genetic diagnosis from several sequencing studies. Finally, alongside benefits such as lower costs and ease of use, NGS panel testing can be easily adopted in common clinical pathology laboratories and not locked in the ivory towers of molecular genetics centers, leading to timely patient management.

Dr. Nicola Marziliano
Dr. Alessandro Medoro
Dr. Claudio Reverberi
Prof. Dr. Mariano Intrieri
Guest Editors

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• cardiomyopathies
• molecular genetics
• next-generation sequencing
• polygenic risk score