Inherited cardiomyopathies: A review and pooled analysis of pathophysiology, diagnosis and clinical management

Aref Albakri
2019 Internal Medicine and Care  
Inherited cardiomyopathies (CMs) are a major cause of heart diseases in all age groups, which severely burdens patients as well as their family members. Data from the past two decades has identified defects in several genes especially those encoding sarcomeric proteins as an important cause of familial hypertrophic, dilated or restrictive CMs. A growing number of families with inherited CMs have also provided a unique resource for studies on the pathogenicity of genetic defects in CMs. Studies
more » ... n imaging, genetics, and genomics have identified molecular triggers of CMs. However, the functional consequences of genetic mutations and the exact details of the signalling pathway leading to hypertrophy, dilation and/or contractile impairment remain to be elucidated. Despite marked improvement in prophylactic and therapeutic agents, morbidity and mortality rates of inherited CMs have not reduced significantly. However, increased focus on genetic studies have the potential to influence the shift from the current symptomatic to novel aetiologic-specific treatment for various forms of inherited CMs. This review summarizes published findings of inherited CMs with a focus on genetic aetiology, pathogenesis, genetic sequencing and treatment.
doi:10.15761/imc.1000135 fatcat:gxrunjvktrdgbmp2vy4e5o2xui