Response by Towbin and Jefferies to Letter Regarding Article, "Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism".

Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism

The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems, particularly skeletal muscle. The...

Response to letter regarding article, "mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center".

BACKGROUND Left ventricular noncompaction is a cardiomyopathy characterized by excessive trabeculation of the left ventricle, progressive myocardial dysfunction, and early mortality. Left ventricular noncompaction has a heterogeneous clinical presentation that includes arrhythmia and sudden cardiac death. METHODS AND RESULTS We retrospectively reviewed all children diagnosed with left ventric...

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.

BACKGROUND Left ventricular noncompaction (LVNC) is an autosomal-dominant, genetically heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac hypertrophy. METHODS AND RESULTS Here, we generated whole exome sequence data from multiple members from 5 families with LVNC. In 4 of 5 families, the candidate causative mutation segregates with disease in known LVNC genes...

Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction Running title: Bainbridge et al.; Mutations in NNT are associated with LVNC

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

BACKGROUND Mutations in the gene G4.5 result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including isolated left ventricular noncompaction (LVNC), as well as Barth syndrome (BTHS) with dilated cardiomyopathy (DCM). The purpose of this study was to investigate patients with LVNC or BTHS for mutations in G4.5 or other novel genes. METHODS AND RESULTS DNA was isolated from...