Genotype-Phenotype Associations in Pediatric Cardiomyopathy

Fecha de inicio: 1 de abril de 2013

Inclusion Criteria: * Patient is alive. (except samples from deceased relatives who have consented for testing).Patients who are status-post heart transplant are eligible if pre-transplant longitudinal data are available. * Under age 18 years at the time of diagnosis of either primary or idiopathic dilated, hypertropic, or restrictive cardiomyopathy. * A diagnosis of cardiomyopathy which, at the time of diagnosis, was confirmed by echocardiographic criteria or cardiac MRI Exclusion Criteria: A patient is not eligible for enrollment if one or more of the following conditions are met at the time of presentation with cardiomyopathy: * Arrhythmogenic right ventricular dysplasia * Neuromuscular disease (defined by specific conditions) * Endocrine disease known to cause heart muscle disease (including infants of diabetic mothers) * History of rheumatic fever * Toxic exposures known to cause heart muscle disease (anthracyclines, mediastinal radiation, iron overload or heavy metal exposure) * HIV infection or born to an HIV positive mother * Kawasaki disease * Immunologic disease * Invasive cardiothoracic procedures or major surgery during the preceding month, except those specifically related to cardiomyopathy including left ventricular assist device (LVAD), extracorporeal membrane oxygenator (ECMO), and automatic implantable cardioverter/defibrillator (AICD) placement. * Uremia, active or chronic * Abnormal ventricular size or function that can be attributed to intense physical training or chronic anemia * Chronic arrhythmia, unless there are studies documenting inclusion criteria prior to the onset of arrhythmia (except a patient with chronic arrhythmia, subsequently ablated, whose cardiomyopathy persists after two months is not to be excluded). * Malignancy * Systemic Hypertension * Pulmonary parenchymal or vascular disease (e.g., cystic fibrosis, cor pulmonale, or pulmonary hypertension) * Ischemic coronary vascular disease * Association with drugs known to cause hypertrophy (e.g., growth hormone, corticosteroids, cocaine) * Genetic syndrome or chromosomal abnormality known to be associated with cardiomyopathy