Andersons pediatric cardiology 1645

DCM Sarcomeric, Z-disk protein mutations ■ β-Myosin heavy chain ■ Cardiac troponin I ■ Cardiac troponin T ■ α-Tropomyosin ■ Bcl2-associated athanogene 3 ■ Cardiac α-actin ■ Titin ■ Cytoskeletal genes ■ Dystrophin (Becker and Duchenne muscular dystrophy) ■ Desmin ■ Sarcoglycan complex (limb girdle muscular dystrophy) ■ α-B crystallin ■ Epicardin ■ Metavinculin ■ Nuclear membrane ■ Lamin A/C (Emery-Dreifuss muscular dystrophy type 1) ■ Emerin (Emery-Dreifuss muscular dystrophy type 2) Intercalated disc protein mutations (see ARVC/D) Mitochondrial Cytopathy Other ■ Phospholamban ■ DNAJ homolog ■ Tafazzin (Barth syndrome) ■ RNA-binding protein 20 ■ Voltage-gated sodium channel type V ARVC/D Intercalated Disc Protein Mutations ■ Plakoglobin (Naxos syndrome) ■ Desmoplakin (Carvajal syndrome) ■ Plakophilin 2 ■ Desmoglein 2 ■ Desmocollin 2 ■ Transmembrane protein 43 RCM Sarcomeric, cytoskeletal and Z-disk Protein mutations ■ Troponin I ■ Troponin T ■ Essential myosin light chain ■ Myosin binding protein C ■ Myopallidin ■ Cardiac α-actin ■ Desmin ■ β-Myosin heavy chain ■ Familial amyloidosis ■ Transthyretin ■ Apolipoprotein ■ Pseudoxanthoma elasticum ■ Haemochromatosis ■ Anderson-Fabry disease ■ Glycogen storage disease LVNC Tafazzin (Barth syndrome) Mindbomb Homolog 1 β-Myosin heavy chain AMP, Associated membrane protein; ARVC/D, arrhythmogenic right ventricular cardiomyopathy/dysplasia; DCM, dilated cardiomyopathy; GSD, glycogen storage disease; HCM, hypertrophic cardiomyopathy; LAMP, lysosome-associated membrane protein; LHON, Leber's hereditary optic neuropathy; LEOPARD, lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retarded growth, deafness; LVNC, left ventricular noncompaction; MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERFF, myoclonic epilepsy with ragged-red fibers; MPS, mucopolysaccharidosis Data from Elliot et al.4 and Burke et al.23