ABSTRACT
Dilated cardiomyopathy (DCM) may present with either a pure and isolated myocardial involvement or with a complex DCM phenotype.1 In the pure form, the pathological features are dominated by ventricular dilation and systolic dysfunction and are frequently the result of mutations in various cytoskeletal and sarcomeric genes, such as ACTC, DES, DMD, MYH7, SGCD, TNNT2, TTN (reviewed further in Chapter 31). Complex forms of DCM, complicated by additional problems including cardiac conduction disease, arrhythmia and skeletal muscular dystrophy, also exist. Many of these have been associated with mutations in the gene encoding lamin A/C (LMNA).2-4 Lamins A and C are key components of the nuclear cytoskeleton, and have important roles in maintaining nuclear envelope architecture. Mutations in the emerin gene (EMD) may also lead to DCM and arrhythmia,5,6 usually in the setting of pedigrees manifesting X-linked patterns of inheritance.
