Genetic Testing Cardiomyopathy | Medical Algorithm

A number of genetic mutations can result in a cardiomyopathy.

Parameters:

(1) chromosome

(2) gene product

(3) type of cardiomyopathy

(4) clinical features

Chromosome	Gene Product	Type of CM	Clinical
1q3	troponin T	hypertrophic, dilated	sudden death or heart failure
1q21.3	lamin A/C	dilated	Emerey-Dreifuss MD, limb girdle MD 2B, sudden death
1q32		dilated
1q42	ryanodine receptor	ARV	AD
2q14-22		dilated
2q31		dilated	heart failure
2q32		ARV	AD
2q35	desmin	dilated	desmin myopathy
3p21	myosin light chain-1	hypertrophic
3p22-25		dilated
3p23		ARV	AD
5q33-34	delta-sarcoglycan	dilated	limb girdle MD 2F, sudden death or heart failure
6p23-24	desmoplakin	ARV	AR, Naxos disease
6q23		dilated	adult onset limb girdle MD
6q23-24		dilated	juvenile SNHL
7q3	AMP-activated protein	hypertrophic
9q13-22		dilated
10p12-14		ARV	AD
10q21-23		dilated	mitral valve prolapse, sudden death
11p11.2	myosin binding protein C	hypertrophic
12q23-24.3	myosin light chain-2	hypertrophic
14q11.2-12	beta myosin heavy chain	hypertrophic, dilated	sudden death or heart failure
14q12		ARV	AD
14q23		ARV	AD
15q14	actin	hypertrophic, dilated
15q22	alpha tropomyosin	hypertrophic	sudden death
17q21	plakoglobin	ARV	AR, Naxos disease
19q13.4	troponin I	hypertrophic	sudden death
Xp21	dystrophin	dilated	Becker or Duchenne MD, heart failure
Xq28	tafazzin	dilated	Barth Syndrome, endocardial fibroelasosis, heart failure
	alpha-myosin heavy chain	hypertrophic
	titin	hypertrophic
mitochondrial DNA	tRNA-Lys	dilated	SNHL

where:

• MD = ,uscular dystrophy

• ARV - arrhythmogenic right ventricular

• AD = autosomal dominant

• AR = autosomal recessive

• SNHL = sensorineural hearing loss

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Genetic Disorders Associated with Cardiomyopathy