Inferolateral Fibrosis in a Nonhypertrophic Left Ventricle.

A 62-year-old recreational cyclist presented with transient loss of consciousness and common electrocardiographic findings. Despite absence of left ventricular hypertrophy, multidisciplinary evaluation and a positive family history led to the diagnosis of non-classical Fabry disease. This case emphasizes the added value of multidisciplinary analysis of nonspecific findings to diagnose a rare disease.

Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating Founder Variant Carriers.

Background: founder variants cause hypertrophic cardiomyopathy leading to heart failure and malignant ventricular arrhythmias. Exercise is typically regarded as a risk factor for disease expression although evidence is conflicting. Stratifying by type of exercise may discriminate low- from high-risk activities in these patients.

Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.

Purpose: Molybdenum cofactor deficiency (MoCD) classically presents shortly after birth, with neurological symptoms ascribed to postnatal toxicity of accumulating sulphite. Case reports suggest that cerebral damage associated with MoCD may have a prenatal onset.

Methods: A meta-analysis of case reports was performed on individuals with genetically proven MoCD retrieved through a systematic review and in-house search.