Abnormalities of the papillary muscle (PM) are a rare disorder that has been described in patients with hypertrophic cardiomyopathy1–3 or cardiac amyloidosis causing significant left ventricular outflow tract (LVOT) obstruction. These anomalies are often challenging to diagnose with 2D echocardiography, and real-time 3D echocardiography (RT3D) facilitates the diagnosis by providing accurate imaging and delineation of the spatial relationship between the cardiac structures.

A 43-year-old black African woman, asymptomatic at presentation (blood pressure 105/71mmHg, heart rate 82bpm, body surface area 1.52m2), diagnosed with sickle cell disease, was investigated for pulmonary hypertension in our department. Echocardiography was requested for the assessment of cardiac function and estimation of pulmonary artery pressures.

Full 2D and 3D transthoracic echocardiography (TTE) was performed and 3D images were acquired and analyzed using Philips Qlab offline analysis software. The echocardiogram revealed a dilated left ventricle (LV) with normal wall thickness and good global systolic function.

In parasternal long-axis 2D view, the anterolateral PM appeared in an unusual position, and in short-axis view and apical 4 chambers view (Figure 1) it was clearly inserted lower than normal. A complete Doppler assessment revealed no high velocity or turbulent flow pattern and no significant LVOT or intracavitary gradient was identified.

Figure 1.

Apical 4-chamber view of the anomalous insertion of the papillary muscles in 2D transthoracic echocardiography.

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3D echocardiography clearly showed the lower insertion of the PM and the hypertrophied chordae (Figure 2). A follow-up echocardiography study was recommended to assess left ventricular hypertrophy but the patient died a few months later due to a subarachnoid hemorrhage. No post-mortem was performed.

Figure 2.

Real-time 3D echocardiography demonstrating the low insertion of the anterolateral papillary muscle in apical 4-chamber view.

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Anomalous insertion of PMs not causing LVOT obstruction is a rare abnormality.1–4 RT3D is being increasingly used in the clinical setting to accurately identify cardiac structures and anatomy.5,6 Its role is mainly in providing additional spatial information to 2D TTE in the identification of complex anatomic structures. The normal variant of low insertion of the anterolateral PM without LVOT obstruction may be observed in healthy individuals but an association with sickle cell disease cannot be excluded; further investigations are needed to confirm this association. To our knowledge, this is the first case in sickle cell disease of an anomalous insertion of PMs not causing LVOT obstruction reported in the literature.

The authors have no conflicts of interest to declare.