Table 2.

Diseases Mimicking Hypertrophic Cardiomyopathy on Echocardiography

Syndrome	Gene(s)	Gene symbol	Locus	Phenotype	Inheritance
AMP kinase disease	AMP-activated protein kinase	PRKAG2	7q36.1	Cardiac hypertrophy, pre-excitation	Autosomal dominant
Familial amyloid disease	Transthyretin	TTR	18q12.1	Low voltage, severe cardiac hypertrophy, paresthesias	Autosomal dominant
Noonan syndrome	Protein tyrosine phosphatase, nonreceptor type 11 (aka tyrosine phosphatase SHP2)	PTPN11	12q24.1	Short stature, facial dysmorphology, congenital heart defects, cardiac hypertrophy, skeletal anomalies, bleeding disorders, learning disabilities (variable)	Autosomal dominant
	Son of sevenless homolog 1	SOS1	2p22.1
	RAF proto-oncogene serine/threonine-protein kinase	RAF1	3p25
	GTPase KRas	KRAS	12p12.1
Fabry disease	Alpha-galactosidase A	GLA	Xq22	Renal disease, paresthesias, cardiac hypertrophy	X linked
				Females can manifest signs of disease
Danon disease	Lysosomal-associated membrane protein 2	LAMP2	Xq24	Males present in childhood with cardiac hypertrophy, skeletal myopathy, mental retardation	X linked
				Females can manifest signs of cardiomyopathy
Hereditary hemochromatosis	Hereditary hemochromatosis protein	HFE	6p21.3	Iron overload, cardiomyopathy, hypogonadotropic hypogonadism, arthropathy, hepatic fibrosis or cirrhosis, diabetes mellitis, progressive skin pigmentation/bronzing	Autosomal recessive
Pompe disease	Acid alpha-glucosidase (aka acid maltase)	GAA	17q25	Acid maltase deficiency (aka glycogen storage disease type II)	Autosomal recessive
				Infantile and juvenile/adult forms
				Skeletal myopathy, ventilatory failure, cardiac hypertrophy