Left ventricular non-compaction: challenges in the etiopathogenesis and risk stratification of sudden cardiac death in clinical practice

• Autor(a) principal: Marques, Nuno
• Data de Publicação: 2022
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.1/18590

In their study published in this issue of the Journal,1 Oliveira et al. elegantly described a family of patients with left ventricular non-compaction (LVNC), illustrating the challenges in clinical practice regarding etiological investigation and risk stratification of sudden cardiac death in these patients. A family history of LVNC has been described in about 30% of cases2 and a pathogenic mutation has been found in nearly one-third.3 Although LVNC is a genetically heterogeneous cardiomyopathy, sarcomere mutations represent more than half of the known genetic causes, especially in adults, and MYH7 is one of the most commonly mutated genes.2 Nevertheless, the causal relation between genetic variants and the LVNC phenotype remains to be ascertained in the majority of cases. This case report underlines the importance of a specialized cardiomyopathy team in the systematic genetic and clinical screening of family relatives and the interpretation of the clinical significance of genetic variants in LVNC.