Cardiomyopathies—Misdiagnosed as Sudden Infant Death Syndrome (SIDS)

Abstract 

Cardiomyopathies are an important and heterogenous group of diseases. With the identification of several new disease entities over the past decade, advances in diagnosis and precise causation, some disease definitions have become outdated. The past decade has witnessed a rapid evolution of molecular genetics in cardiology, e.g. myocardial diseases (Hypertrophic cardiomyopathy—HCM, Arrhythmogenic right ventricular cardiomyopathy—ARVCM) and channelopathies (Long QT syndrome—LQTS, Brugada syndrome—BrS, Catecholaminergic Polymorphic Ventricular Tachycardia—CPVT and Short QT syndrome—SQTS) as diseases predisposing to potentially lethal ventricular tachyarrhythmias. Beside the detection of mutations in several genes, histological and immunohistochemical findings can point to a cardiomyopathy as underlying disease. Therefore, previous microscopical investigations of different parts of the myocardium can help to select those cases of suspected Sudden Infant Death Syndrome (SIDS), where a search for genetic mutations can lead to a diagnosis explaining the sudden and unexpected death.

Keywords: Inflammatory cardiomyopathy, Left ventricular non-compaction cardiomyopathy (LVNC), Hypertrophic cardiomyopathy, Sudden Infant Death Syndrome (SIDS)