Table 2.

Evidence of myocardial inflammation in human cardiomyopathies.

Gene	Model	Main Findings	References
DSP, PKP2	Clinical setting	Patients with DSP variant cardiomyopathy including 16/105 (15%) who had “acute myocardial injury episodes” akin to clinical myocarditis.	[18]
DSP	Clinical setting	Acute myocarditis reflects an active phase of ACM that leads to changes in phenotype and abrupt progression of ACM.	[19]
DSP	Clinical setting	Cohort of patients initially presenting with a classic myocarditis syndrome (chest pain, troponin elevation) who were subsequently diagnosed with ACM. Most patients had a DSP genetic variant.	[20,21,22]
DSP, LAMA4, LDB3, MYBPC3 DSC2, RYR2, SOS1, SCN5A, SGCD, LPL, PKP2, MYH1, GATA6, and DSG2	Human heart specimens from autopsy cases	Minimal inflammatory foci may be an early sign of inherited cardiomyopathy.	[23]
DSP, FLNC, PKP2, TMPO, TTN	Human EMB	Retrospective multicenter study on patients with undefined LV ACM and extensive overlap between EMB-proven myocardial inflammation and rare genetic variants of the DCM/ACM spectrum.	[5]
	Human EMB	Most asymptomatic relatives of dilated cardiomyopathy patients with mild left ventricular enlargement already showed infiltration of inflammatory cells, at levels that were similar to those of patients with established disease.	[24]
SCN5A	Case report	Young SCN5A variant carrier with recurrent ventricular fibrillation and massive myocardial inflammation	[25]

The main reports linking myocardial inflammation to primary cardiomyopathies in human subjects are shown.