Case report: Diagnosis of apical hypertrophic cardiomyopathy that escaped clinical and echocardiographic investigations for twenty years: Reasons and clinical implications

Figure 1. Timeline of clinical events in the 20 years before the diagnosis (on the left) and Pro-BNP values in the previous year (on the right). The Pro-BNP values are mildly but consistently abnormally high in each of the 4 evaluations.

Figure 2. EKG tracing with no typical giant negative T waves. The rhythm is Afib; The R voltage of the QRS is modestly elevated in V3-V5 with only a shallow negative T wave in V3. Paced QRS complex. EKG = electrocardiogram; ApHCM = apical hypertrophic cardiomyopathy; Afib = atrial fibrillation.

Figure 3. Severe apical left ventricular hypertrophy, as assessed by contrast enhanced transthoracic echocardiography. Four chamber view before (on the left) and after ultrasound contrast injection (on the right). Before contrast, the LV apical region does not show any clear delineation of the endocardial border but reveals a fairly homogeneous low backscatter echo-structure resembling a blood pool. No evident abnormality of the LV apical region can be noted but just poor quality imaging of the apical region with scarce delineation of the endocardium; the pace-maker leads can be noted in the right atrial cavity. On the contrary, after contrast injection (Sonoview® 1 cc in bolus) (on the right), a perfect delineation of the true apical endocardium is very clearly depicted as a hyper reflective line of backscatter (arrowheads). The severe hypertrophy of the LV apical wall can be noted and measured, as indicated by arrows (>3 cm thickness). The left atrium is dilated. The right atrial cavities are filled with contrast medium. LV = left ventricle; RV = right ventricle; RA = right atrium; LA = left atrium.

Figure 4. E/e’ and pulmonary pressure evaluation by transthoracic Doppler. At the top, tissue Doppler imaging of the movement of the septal (on the left, e’ septal wave) and of the lateral mitral annulus (on the right, e’ lateral wave); at the bottom (on the left) transmitral blood flow Doppler recording (mitral E wave) (the A wave is lacking since the rhythm is atrial fibrillation). The E/e’ ratio is elevated, indicating a high mean left atrial pressure confirmed by the elevated pulmonary pressure, as assessed by the maximal velocity of the TR jet (>2.7 cm/s) (bottom right). PW = pulsed Doppler; CW = continuous Doppler; TR = tricuspid regurgitation.