Description

A 37-year-old male was referred for cardiology evaluation following the incidental discovery of a heart murmur during a routine examination by his primary care physician. The patient was asymptomatic with no prior history of cardiovascular disease. Clinical examination revealed a holosystolic murmur at the apex, suggestive of mitral regurgitation. Transthoracic Echocardiography (TTE) showed a myxomatous mitral valve with prolapse of the A2-A3 segments, consistent with Barlow’s disease, leading to moderate-to-severe mitral regurgitation (Figure 1). Left ventricular function was preserved with an ejection fraction of 65%, and no left ventricular dilation was observed.

Further evaluation revealed an apical displacement of the septal leaflet of the tricuspid valve, characteristic of Ebstein’s anomaly (Figure 2). The tricuspid regurgitation was mild, with no right ventricular dilation or pulmonary hypertension. This rare association of Barlow’s disease and Ebstein’s anomaly underscores the complexity of congenital valvular abnormalities and their clinical implications. The coexistence of these two distinct pathologies poses unique diagnostic and therapeutic challenges, as their progression and management may differ significantly. This necessitates careful longitudinal monitoring and a multidisciplinary approach to treatment planning. Early recognition is crucial to prevent complications such as heart failure, arrhythmias, and the potential need for surgical intervention. Few cases of this association have been reported in the literature, emphasizing the uniqueness of this case [1]. The patient is currently under conservative management with regular follow-up to monitor the progression of both valvular conditions.

Declarations

Ethical approval: Written informed consent was obtained from the patient described in this article.

Funding: No funding has been received to carry out the work described in this manuscript.

Conflict of interest: None.

Figure 1: Transthoracic echocardiography in the parasternal long-axis view with simultaneous color Doppler showing prolapse of the anterior mitral leaflet, resulting in moderate-to-severe mitral regurgitation.

Figure 2: Apical four-chamber view demonstrating apical displacement of the septal leaflet of the tricuspid valve (green arrow), positioned higher than the anterior leaflet of the mitral valve (red arrow), consistent with Ebstein’s anomaly, without right ventricular dilation.

References

1. Celermajer DS, Amstrong C, Baer P, et al. Prolapse of the Mitral Valve (Floppy Valve) Associated with Ebstein’s Anomaly of the Tricuspid Valve. Am J Cardiol. 1976; 37(6): 967-970.