Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment

Abstract

Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiomyopathy. The identification of patients with HCM is sometimes still a challenge. Moreover, the pathophysiology of the disease is complex because of left ventricular hyper-contractile state, diastolic dysfunction, ischemia and obstruction which can be coexistent in the same patient. In this review, we discuss the current and emerging echocardiographic methodology that can help physicians in the correct diagnostic and pathophysiological assessment of patients with HCM.

Figure 1

Systolic anterior motion (SAM) of the mitral valve visualized by M-Mode echocardiography. X represent the duration of SAM, whereas Y represent the time elapsed between the beginning of SAM and the SAM-septal contact (see text for more details).

Figure 2

Left ventricular walls dived in four regions in a patients with HCM. Right panel. Apical view in a patient with apical hypertrophy.

Figure 3

Examples of patients with hypertrophic cardiomyopathy with typical asymmetrical left ventricular hypertrophy.

Figure 4

Patient with left ventricular non compaction. This patient was sottoposed to echocardiography in the contest of family screening for apical hypertrophic cardiomyopathy.

Figure 5

Echocardiographic methods to identify the degree and the extension of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. LV = left ventricular

Figure 6

Patient with end stage hypertrophic cardiomyopathy: note the absence of thinning: the left ventricular ejection fraction is 40%.

Figure 7

Patient with extreme left ventricular symmetrical hypertrophy. At electrocardiography patient showed a short PR. The patient was referred for aminotransferase and creatinine phosphokinase dosage and for genetic testing.

Figure 8

Young male with definitive diagnosis of Anderson- Fabry disease. For courtesy of Dr L. Spinelli.

Figure 9

Patient with definite diagnosis of mithocondropathy done by neurologists. Echocardiography shows mild symmetric hypertrophy with mild reduction of left ventricular ejection fraction. During follow-up patient developed severe grade of AV block needing pace-maker and severe reduction of ejection fraction needing resynchronization.

Figure 10

Patient with definitive diagnosis of amyloidosis. Note the pericardial effusion.

Figure 11

Scheme for the clinical and echocardiographic approach in patients with unexplained left ventricular hypertrophy. LV = left ventricular

Figure 12

Mid ventricular obstruction with an hourglass appearance.

Figure 13

Example of patients with abnormal direct insertion of papillary muscles into anterior mitral leaflet.

Figure 14

Differentiation between mitral regurgitation (first cardiac cycles) and left ventricular outflow tract gradient (last cardiac cycles). This was obtained by orienting the probe more medially and anteriorly.

Figure 15

Echocardiographic findings and their prognostic impact in patients with HCM.

Figure 16

Mechanisms linked to diastolic dysfunction in patients with hypertrophic cardiomyopathy. Dashed lines represent links not yet well demonstrated.

Figure 17

Example of post-systolic strain in a patient with HCM.