Findings on Echocardiography Suggestive of the Underlying Cause for a Cardiomyopathy

Findings seen on echocardiography can help to diagnose the cause of a cardiomyopathy.

Phenotypes of cardiomyopathy (CM):

(1) arrhythmogenic right ventricular cardiomyopathy (ARVC)

(2) dilated cardiomyopathy (DCM)

(3) hypertrophic cardiomyopathy (HCM)

(4) restrictive cardiomyopathy (RCM

Phenotype	Echocardiography	Diagnosis
ARVC	concurrent left ventricular segmental dysfunction	biventricular ARVC
DCM	postero-lateral dyskinesis or akinesis	dystrophin-related CM
	non-compaction of the left ventricle	genetic DCM
	mild dilatation and akinetic or dyskinetic segments in a noncoronary distribution	myocarditis, sarcoidosis
HCM	increased thickness of the interatrial septum	amyloidosis
	ground-glass appearance of ventricular myocardium	amyloidosis
	increased tricuspid or mitral valve thickness	amyloidosis, Anderson-Fabry disease
	increased right ventricular free wall thickness	amyloidosis, Anderson-Fabry disease, myocarditis, Noonan syndrome
	pericardial effusion (mild to moderate)	amyloidosis, myocarditis
	concentric left ventricular hypertrophy	glycogen storage disease, Anderson-Fabry disease, PRKAG2 mutations
	extreme concentric left ventricular hypertrophy (wall thickness >= 30 mm)	Danon disase, Pompe disease
	global hypokinesis (with or without left ventricular dilatation)	Anderson-Fabry disease, mitochondrial disease, amyloidosis (TTR-related), PRKAG2 mutations, Danon disease, myocarditis, sarcomeric HCM
	right ventricular outflow tract obstruction	Noonan syndrome
RCM	partial apical obliteration of left and/or right ventricle(s)	endomyocardial fibrosis/hypereosinophilia

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