Paediatric and Congenital Cardiac Service Starship Children's Hospital The electronic version of these guidelines is the version currently in use. Any printed copy cannot be assumed to be current.

Appendix 3: Table 3: Examples of different diseases that cause cardiomyopathies 1 ( Adapted from European Society of Cardiology classification of primary cardiomyopathies 1 (Elliot, et al., 2008).

HCM DCM ARVC RCM UNCLASSIFIED Familial, unknown Familial, unknown gene Familial, unknown gene Familial unknown gene Left ventricular Familial Sarcomeric Sarcomeric protein mutations (see protein Sarcomeric protein mutations non-compaction ß heavy chain HCM) mutations I (RCM þ/2 HCM) Barth syndrome Cardiac myosin binding protein C Z-band Essential light chain of myosin A/C Cardiac Muscle LIM protein Familial amyloidosis ZASP Troponin-T TCAP Plakophilin 2 Transthyretin (RCM þ neuropathy) a-dystrobrevin a- Cytoskeletal Desmoglein 2 Apolipoprotein (RCM þ Essential 2 nephropathy) Regulatory myosin light chain Cardiac ryanodine receptor Desminopathy Cardiac Metavinculin (RyR2) Pseuxanthoma elasticum a-myosin heavy chain complex Transforming growth Haemochromatosis CRYAB factor-b3 (TGFb3) Anderson–Fabry disease Epicardin Glycogen storage disease Muscle LIM protein Nuclear membrane Lamin A/C Metabolic Emerin Glycogen storage disease Mildly dilated CM - Pompe, III, IV, IX Intercalated disc protein mutations - PRKAG2 (see ARVC) - Danon Mitochondrial cytopathy Lysosomal storage diseases - Anderson–Fabry - I-cell - Gaucher disease - Aspartylglucosaminuria Sialidosis - Mucopolysaccharidoses ( MPS) I, II, III, IV, VI, Mucolipidoses Fatty Acid Oxidation Defects (FAOD): (particularly if associated with an arrhythmia) - LCHAD and TFP, - VLCAD, CPT2 and CACT deficiency, MADD, - Carnitine deficiency - Selenium deficiency Mitochondrial disorders - 3-methylglutaconic acidurias i.e. Barth syndrome - any mitochondrial respiratory chain defect - Particular mt DNA point mutations (C3303T) - Kearns-Sayre syndrome - Coenzyme Q10 deficiency Author: J Stirling / E Glamuzina / M Hamer Page 9 of 12 Updated August 2013 Paediatric and Congenital Cardiac Service Starship Children's Hospital The electronic version of these guidelines is the version currently in use. Any printed copy cannot be assumed to be current. Peroxisomal biogenesis defects Organic acidaemias: (associated with Familial metabolic acidosis and frequently (cont) associated with arrhythmia) - Methylmalonic and propionic acidaemia - Disorders of intracellular cobalamin metabolism

Endocrine - Congenital lipodystrophies - Congenital generalized lipodystrophy (Beradinelli-Seip syndrome) - Familial partial lipodystrophy

Syndromic - Noonan’s syndrome - LEOPARD syndrome - Friedreich’s ataxia - Beckwith–Wiedermann syndrome - Swyer’s-James syndrome syndrome(46 XY, pure gonadal dysgenesis)

Other Phospholamban promoter Familial amyloid

Obesity Myocarditis (infective/toxic/immune) Amyloid (AL/prealbumin) Non Infants of diabetic mothers - Viral: Coxsackievirus B, Inflammation? Scleroderma Tako Tsubo Familial In utero ritodrine hydrochloride exposure Echovirus, Mumps, Rubella, Endomyocardial fibrosis cardiomyopathy Athletic training Rubeola, EBV, Influenza, Hypereosinophilic syndrome Amyloid (AL/prealbumin) parainfluenza, Parvovirus Idiopathic Hypertension - Bacterial: Diptheria, Chromosomal cause Meningococci, Pneumococci, Drugs (serotonin, methysergide, Gonococci ergotamine, mercurial agents, - Fungal: Candidiasis, busulfan) Aspergillosis Carcinoid heart disease - Protozoal: American Metastatic cancers trypanosamiasis (Chagas’ Radiation disease), Toxoplasmosis Drugs (anthracyclines) - Rickettsial: Rocky Mountain spotted fever - Spirochetal: Lyme disease

Endocrine - Thyrotoxicosis, Hypothyroidism,

Author: J Stirling / E Glamuzina / M Hamer Page 10 of 12 Updated August 2013 Paediatric and Congenital Cardiac Service Starship Children's Hospital The electronic version of these guidelines is the version currently in use. Any printed copy cannot be assumed to be current. - Diabetic Cardiomyopathy - Hypoglycemia - Phaeochromocytoma Non - Neuroblastoma Familial - Catecholamine cardiomyopathy (cont.) Myocarditis (infective/toxic/immune) - Viral: Coxsackievirus B, Echovirus, Mumps, Rubella, Rubeola, EBV, Influenza, parainfluenza, Parvovirus - Bacterial: Diptheria, Meningococci, Pneumococci, Gonococci - Fungal: Candidiasis, Aspergillosis - Protozoal: American trypanosamiasis (Chagas’ disease), Toxoplasmosis - Rickettsial: Rocky Mountain spotted fever - Spirochetal: Lyme disease

Nutritional - thiamine, carnitine deficiency, selenium, hypophosphataemia, hypocalcaemia,Kwashiorkor (protein), Beriberi deficiency,Hypertaurinuria, Vitamin D deficiency

Ischaemic - Kawasaki disease - ALCAPA - Homozygous familial hypercholesterolaemia and homocysteinuria

Tachycardiomyopathy - Ectopic atrial tachycardia, PJRT, Slow VT Miscellaneous - Eosinophilic (Churg Strauss), Drugs, Alcohol, Peripartum cardiomyopathy, Haemolytic- uremic syndrome, Osteogensis imperfecta

Author: J Stirling / E Glamuzina / M Hamer Page 11 of 12 Updated August 2013