Familial types of cardiomyopathy

Familial, unknown gene

• Βeta-myosin heavy chain
• Cardiac myosin binding protein C
• Cardiac troponin I
• Troponin T
• Alpha-tropomyosin
• Essential myosin light chain
• Regulatory myosin light chain
• Cardiac actin
• Alpha-myosin heavy chain
• Titin
• Troponin C
• Muscle LIM protein

Glycogen storage disease (eg, Pompe; PRKAG2, Forbes, Danon)

Lysosomal storage diseases (eg, Fabry, Hurler)

Disorders of fatty acid metabolism

Carnitine deficiency

Phosphorylase B kinase deficiency

Mitochondrial cytopathies

• Noonan syndrome
• LEOPARD syndrome
• Friedreich ataxia
• Beckwith-Wiedemann syndrome
• Swyer-James syndrome

• Phospholamban promoter
• Familial amyloid

Familial, unknown gene

Sarcomeric protein mutations (see HCM)

• Muscle LIM protein
• TCAP

• Titin
• Dystrophin
• Desmin
• Metavinculin
• Sarcoglycan complex
• CRYAB
• Epicardin

• Lamin A/C
• Emerin

Mildly dilated CM

Intercalated disc protein mutations (see ARVC)

Familial, unknown gene

• Plakoglobin
• Desmoplakin
• Plakophilin 2
• Desmoglein 2
• Desmocollin 2

Transmembrane protein 43 (TMEM43)

Familial, unknown gene

Intercalated disc protein mutations (see ARVC)

Lamin A/C

SCN5A

Phospholamban

FLNC

Desmin

Familial, unknown gene

• Troponin I (RCM +/- HCM)
• Essential light chain of myosin

• Transthyretin (RCM + neuropathy)
• Apolipoprotein (RCM + nephropathy)

Desminopathy

Pseuxanthoma elasticum

Haemochromatosis

Fabry disease

• Barth syndrome
• Lamin A/C
• ZASP
• Alpha-dystrobrevin