Endocardial fibroelastosis and dilated cardiomyopathy - the past and future of the interface between histology and genetics.

Endocardial fibroelastosis (EFE) signifies the pathological process by which collagen and elastin are focally or diffuse deposited in the endocardium of the left ventricle. The new layer causes left ventricular dysfunction sometimes with fulminant progression to heart failure. EFE is a major component in many congenital heart abnormalities but can also occur in the absence of heart malformations, either as a primary process or in response to cardiac injury. The endothelial-mesenchymal transition (EndMT) abnormalities seem to be main pathogenic factor in fibroelastosis development. The "gold standard" for diagnosis of primary EFE (pEFE) is the histological examination. Additionally, genetic studies may help to establish the natural course of the disease and to communicate prophylactic measures to family members of the affected child. Moreover, in the newborn, EFE takes the form of dilated cardiomyopathy (DCM) with unfavorable evolution. The proper management should be established considering negative prognostic factors, involving early transplantation, drug therapy and long-term follow-up.

Morphological, genetic and clinical correlations in infantile hemangiomas and their mimics.

Infantile hemangiomas (IHs) are the most frequent pediatric benign vascular tumors, with a reported incidence of 5% to 10%. They have self-limiting evolution pattern divided into a growth phase in the first 12 months and a regression one, that may take up to 10 years. Occasionally, hemangiomas might lead to local or systemic complications, depending on their morphological characteristics. The first line of treatment is ß-blockers, such as Propranolol, Timolol, Nadolol, administered either locally or systemically. Newer therapeutic strategies involving laser therapy and angiotensin-converting enzyme inhibitors are being studied, while older treatment modalities like corticosteroids, Imiquimod, Vincristine, Bleomycin and Interferon-α have become second line therapy options. Before establishing the appropriate treatment, clinical, histological, and imaging investigations are required.