Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imaging

O’Neill, Ailbhe C.; McDermott, Shaunagh; Ridge, Carole A.; McDonald, Kenneth; Keane, David; Dodd, Jonathan D.

doi:10.1007/s13244-010-0045-4

Insights into Imaging

Table 1 Examples of common and rare cardiomyopathies [7]

From: Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imaging

	HCM (Figs. 1, 2, 3, 4)	DCM (Figs. 5, 6, 7)	ARVC	RCM (Figs. 8, 9, 10)	Unclassified (Figs. 11, 12)
Familial	Familial, unknown gene	Familial, unknown gene	Familial, unknown gene	Familial, unknown gene	Familial, unknown gene
	Sarcomeric protein mutations	Sarcomeric protein mutations (see HCM)	Intercalated disc protein mutations	Sarcomeric protein mutations	Left ventricular non-compaction
	β myosin heavy chain	Z-band	Plakoglobin	Troponin I (RCM ± HCM)	Barth syndrome
	Cardiac myosin binding protein C	Muscle LIM protein	Desmoplakin	Essential light chain of myosin	Lamin A/C
	Cardiac troponin 1	TCAP	Plakophilin 2	Familial amyloidosis	ZASP
	Troponin T	Cytoskeletal genes	Desmoglein 2	Transthyretin (RCM + neuropathy)	α-dystrophin
	α-tropomyosin	Dystrophin	Desmocollin 2	Apolipoprotein (RCM + neuropathy)
	Essential myosin light chain	Desmin	Cardiac ryanodine receptor (RyR2)	Desminopathy
	Regulatory myosin light chain	Metavinculin	Transforming growth factor-β3 (TGFβ3)	Pseuxanthoma elasticum
	Cardiac actin	Sarcoglycan complex		Haemochromatosis
	α-myosin heavy chain	CRYAB		Anderson-Fabry disease
	Titin	Epicardin		Glycogen storage disease
	Troponin C	Nuclear membrane
	Muscle LIM protein	Lamin A/C
	Glycogen storage disease (e.g. Pompe; PRKAG2, Forbes’, Danon)	Emerin
	Lysosomal storage disease (e.g. Anderson-Fabry, Hurler’s)	Mildly dilated CM
	Disorders of fatty metabolism	Intercalated disc protein mutations (see ARVC)
	Carnitine Deficiency	Mitochondrial myopathy
	Phosphorylase B kinase deficiency	Dystrophies
	Mitochondrial cytopathies
	Syndromic HCM
	Noonan syndrome
	LEOPARD syndrome
	Friedriech’s ataxia
	Beckwith-Wiedermann syndrome
	Swyer’s syndrome
	Other
	Phospholamban promotor
	Familal amyloid
Non familial	Obesity	Myocarditis (infective/toxic/autoimmune)	Inflammation?	Amyloid (AL/prealbumin)	Tako Tsubo cardiomyopathy
	Infants of diabetic mothers	Kawasaki disease		Scleroderma
	Athletic training	Eosinophilic (Churg Strauss syndrome)		Endomyocardial fibrosis
	Amyloid (AL/prealbumin)	Viral persistence		Hypereosinophilic syndrome
		Drugs		Idiopathic
		Pregnancy		Chromosomal cause
		Endocrine		Drugs (serotonin, methysergide, ergotamine)
		Nutritional—thiamine, carntitine, selenium, hypophosphatemia, hypocalcemia
		Alcohol		Carcinoid heart disease
		Tachycardiomyopathy		Metastatic cancers
				Radiation
				Drugs (anthracyclines)

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