Finding autopsyAge limitPossible mutated genesClass of recommendation for referral of first-degree family members for clinical/genetic counselingLevel of evidence [References]
Unknown/Uncertain cause of SCD≤ 40Mainly ion channels genesIC [58] [59, 63, 64]
Hypertrophic cardiomyopathyNo limitSarcomeric and other disease related genesIC [59, 65]
Arrhythmogenic cardiomyopathyNo limitDesmosomal and other disease-related genesIC [66]
Dilated cardiomyopathyNo limitSarcomeric, cytoskeleton and other disease-related genesIC [59]
Premature atherosclerosisMen < 40 Women< 50Familial hypercholesterolemia genesIIaC [67, 68]
Thoracic aortic aneurysm / dissection / rupture with medial degenerationUnknownSyndromic and non-syndromic aortic aneurysm-related genesIC [6971]
Spontaneous coronary artery dissectionNo limitConnective tissue disease-related genesIIaC [72]
Pulmonary embolismUnknownHereditary thrombophilia genesIIba C [73]
SUDEPUnknownOverlap with ion channel-related genesIIaC [74, 75]
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Changes in the range of normality or secondary changesPathologic changesComments
Fatty infiltration of the right ventricular wallArrhythmogenic cardiomyopathyMassive fatty infiltration of the right ventricle, without any evidence of replacement-type fibrosis and myocyte degeneration, should not be considered a diagnostic finding of arrhythmogenic cardiomyopathy, especially in obese, elderly people and people with alcohol abuse
Exercise-induced left ventricular hypertrophy (athlete’s heart)Hypertrophic cardiomyopathyAn enlarged left ventricular cavity with increased wall thicknesses up to 13–14 mm is present in more than one third of highly trained athletes. Detailed histology essential
Focal myocardial disarray without hypertrophyHypertrophic cardiomyopathy without hypertrophyMacroscopic changes are not always present in hypertrophic cardiomyopathy. Isolated myocardial disarray confined to the antero-septal and postero-septal junctions should be considered physiologic. For a confident diagnosis, additional findings, such as interstitial and/or replacement fibrosis and abnormal intramyocardial blood vessels should be searched for
Scattered inflammatory foci with or without small foci of fibrosisFocal myocarditisIn the absence of myocyte necrosis, small foci of inflammatory cells (even after immunohistochemistry), are not sufficient evidence of myocarditis. Scattered small foci of fibrosis are also insignificant.
Circumferential, subendocardial myocardial ischemia+/− hemorrhage after resuscitative maneuversRegional or circumferential, sub-endocardial myocardial ischemia without resuscitative maneuversIschemic changes of the myocardium, particularly when sub-endocardial and diffuse require exclusion of prolonged resuscitative maneuvers
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