Echocardiography in the Diagnosis of Cardiomyopathies: Current Status and Future Directions

Abstract

Cardiomyopathies are a challenging pathology and echocardiography is essential for diagnosis and prognosis. The most frequent cardiomyopathies are the dilated cardiomyopathy (DCM) and the hypertrophic cardiomyopathy (HCM), followed by the less frequent restrictive (RCM) and arrhythmogenic right ventricle cardiomyopathies (ARVC). Echocardiography can identify diagnostic features, and guide further testing for a definitive diagnosis. Echographic parameters are involved in risk score computing and prognosis assessment. While the most prevalent hallmark of HCM is the asymmetric left ventricular hypertrophy and systolic anterior motion of the mitral valve with the obstructive phenotype, DCM shows dilated left ventricle with different degrees of systolic dysfunction, and RCM is usually characterized by undilated ventricles associated with atrial enlargement. The aim of this review is to display and compare the most frequent cardiomyopathies encountered in clinical practice and highlight their most characteristic features in a useful way for the practicing clinician.

Keywords: Takotsubo syndrome; arrhythmogenic right ventricle cardiomyopathy; deep learning; dilated cardiomyopathy; restrictive cardiomyopathy; speckle tracking; stress cardiomyopathy; ventricular non-compaction.

Fig. 1.

Echocardiographic aspect of DCM. Parasternal long-axis view showing a dilated left atrium and left ventricle in diastole. An online video of this patient with idiopathic dilated cardiomyopathy is available (Appendix Video 1).

Fig. 2.

Echocardiographic aspect of DCM in a patient with idiopathic dilated cardiomyopathy. (A) Parasternal short axis at the level of the mitral valve, diastolic frame showing a dilated left ventricle. (B) Parasternal short axis at the level of the mitral valve, systolic frame showing the small difference between the end-diastolic and end-systolic diameter of the left ventricle due to reduced contractility.

Fig. 3.

Echocardiographic aspect of DCM in a patient with idiopathic dilated cardiomyopathy. (A) Apical 4 chamber view, showing dilated left ventricle, dilated left atrium, and significant secondary mitral regurgitation flow with Coanda effect. (B) Parasternal long-axis view, showing dilated left ventricle, dilated left atrium, and significant secondary mitral regurgitation flow with Coanda effect. An online video of this patient with idiopathic dilated cardiomyopathy is available (Appendix Video 2 and 3).

Fig. 4.

Echocardiographic aspect of HCM. (A) Apical 4 chamber view systolic frame, showing increased septum thickness. (B) Apical 4 chamber view diastolic frame. (C) Parasternal long-axis view- evidence of systolic anterior motion of the mitral valve. An online video of this patient with HCM is available (Appendix Video 4).

Fig. 5.

Echocardiographic aspect of HCM. (A) Parasternal long-axis view diastolic frame showing increased thickness of septum and inferolateral wall. (B) Parasternal long-axis view systolic frame showing (arrow) systolic anterior motion of the anterior mitral valve. (C) Short axis view diastolic frame showing significant left ventricular hypertrophy. (D) Short axis view systolic frame showing reduced left ventricular end-systolic diameter.

Fig. 6.

Echocardiographic aspect of HCM. CW Doppler in a patient with obstructive hypertrophic cardiomyopathy shows typical systolic flow with a late peaking gradient of 85 mm Hg at end-systole. The aspect of the continuous Doppler curve is typical for obstructive HCM, with an early peak and major increase of meso-telesystolic velocities when intraventricular obstruction occurs. This is most obvious in relatively bradycardic patients who display the typical “pulsus bisferiens” pattern.

Fig. 7.

Echocardiographic aspect of HCM. (A) Apical 4 chamber view shows left ventricular hypertrophy. (B) The longitudinal strain bull’s eye plot derived from 2-D speckle tracking imaging shows a significantly reduced GLS (global longitudinal strain) of –8.1%, the most abnormal region is the basal septum, corresponding with the greatest wall thickness.

Fig. 8.

The echocardiographic aspect of RCM in an elderly patient presenting with signs and symptoms of heart failure. Apical 4 chamber view showing severe biatrial enlargement, with left atrial thrombus and non-dilated left and right ventricles.

Fig. 9.

The echocardiographic aspect of cardiac amyloidosis, associated with aortic stenosis. (A) short-axis view, showing left ventricular hypertrophy. (B) Speckle tracking echocardiography obtained by measuring longitudinal strain in apical 4 chamber view, shows a significantly reduced GLS (global longitudinal strain) of –8.6%.

Fig. 10.

Echocardiographic aspect of RCM. (A) Apical 4c view of an elderly patient with idiopathic restrictive cardiomyopathy, severe biatrial enlargement (left atrium $>$right atrium) with atrial fibrillation. (B) PW tissue Doppler recording of the septal mitral annulus showing mildly reduced myocardial velocities (systolic velocity of 5 cm/sec). A video of the apical 4 chamber view is available online (Appendix Video 5).

Fig. 11.

Echocardiographic aspect of AC. Apical 4 chamber view showing dilation and thick right ventricular free wall. A video of the apical 4 chamber view is available online (Appendix Video 6).

Fig. 12.

Echocardiographic non-compaction cardiomyopathy. (A) 2D short axis view, at the level of the apex, showing a meshwork of trabeculae. (B) 2D Apical 4 chamber view showing dilation of the left ventricle, and apical trabeculation. A video of the apical 4 chamber view is available online (Appendix Video 7).

Fig. 13.

Apical ballooning in a typical form of Takotsubo cardiomyopathy. TTE apical 4 chamber view. (A) end diastolic frame (B) end systolic frame. A video of the apical 4 chamber view is available online (Appendix Video 8).