A 36-year-old woman was referred for medical evaluation prior to non-cardiac surgery. She was healthy and only complained of sporadic palpitations. The 12-lead electrocardiogram showed sinus rhythm and left bundle branch block. Transthoracic echocardiography revealed a normally functioning, slightly dilated left ventricle (LV), with the interventricular septum bulging toward the right ventricle (RV), which was elongated and wrapped around the LV (Figure 1; Supplementary material Videos S1 and S2). The papillary muscles were structurally abnormal and presented an apical origin, findings better visualized in contrast images (Figure 2; Videos S3–S5). Cardiac magnetic resonance confirmed the presence of a truncated LV, a complex network of papillary muscles of apical origin, and a banana-shaped, normally functioning RV (Figures 3 and 4; Videos S6–S8). There was no evidence of fatty infiltration or late enhancement with gadolinium.

Figure 1.

Transthoracic echocardiogram. (A) Apical 4-chamber view; (B) apical 2-chamber view. Solid arrow: right ventricle. Dashed arrow: network of papillary muscles.

(0.12MB).

Figure 2.

(A) Transthoracic echocardiogram, parasternal short-axis view. Contrast transthoracic echocardiogram: (B) parasternal short-axis view; (C) apical 4-chamber view; (D) apical 3-chamber view.

(0.25MB).

Figure 3.

Cardiac magnetic resonance. Steady-state free precession images in horizontal long-axis view (A) and vertical long-axis view (B). Solid arrow: right ventricle. Dashed arrow: network of papillary muscles.

(0.17MB).

Figure 4.

Cardiac magnetic resonance. Sequence of steady-state free precession images, in short-axis view, from base to mid-ventricular level (A–D), showing the complex network of papillary muscles.

(0.3MB).

During a three-year follow-up, the patient remained asymptomatic with no evidence of arrhythmias in serial Holter monitoring and with no signs of heart failure.

These findings are consistent with LV apical hypoplasia, a recently recognized cardiomyopathy, with only 15 cases reported since its first description in 2004. The age of diagnosis (3 months to 63 years) and clinical presentation vary widely, with most individuals remaining asymptomatic or mildly symptomatic for variable periods of time. However, a case of a 19-year-old male with a rapidly fatal presentation has been described. The precise pathophysiological basis and natural history of this entity remain unknown.

To our knowledge, this is the first case described in the Portuguese population.