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. 2023 Sep 25;14(10):1864. doi: 10.3390/genes14101864

Figure 1.

Figure 1

Gene mutations implicated in cardiomyopathies. Cardiomyopathies (CMPs) were conventionally classified according to the major clinical phenotypes manifested by the patient (see text); however, genetics has identified gene mutations that contributed to the manifestation of dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and arrhythmogenic cardiomyopathy (ACM). Approximately half of patients with ACM have an identifiable genetic cause for disease. A majority of these mutations can be attributed to variants in five genes encoding proteins of the desmosome (red): PKP2, DSG2, JUP, DSC2, and DSP (dark green circles). Mutations in non-desmosomal genes (orange) also contribute to forms of ACM with distinct etiologies. First Row: CTNNA3 [7], PLN [8], TGFβ3 [9], TTN [10], ACTN2 [11], DES [12], SCN5A [13]; Second Row: CDH2 [14], LMNA [15], SORBS2 [16], RBM20 [17], BAG3 [18], OBSCN [19], TP63 [20]; Third Row: RYR2 [21], FLNC [22], ILK [23], TJP1 [24], NKX2..5 [24], LEMD2 [25], and TMEM43 [26].