Spontaneous mitral valve perforations: a rare case of dual mirror-image perforations in the anterior and posterior leaflets

Introduction

Mitral valve (MV) perforation is an uncommon clinical finding, most often associated with infective endocarditis (1). Non-infective etiologies of MV perforation are rare, with reported cases including connective tissue disease (2), aortic valve replacement (3), atrial septal defect occluder device implantation (4), radio-frequency ablation (5), mitral annular calcification (6), and mitral tumors (7).

Spontaneous MV perforation refers to an idiopathic rupture in the absence of known predisposing factors. This condition is exceedingly rare. To date, only two unequivocally documented cases have been reported, both of which involved solitary perforations in the anterior mitral leaflet (AML) (8,9). In this article, we present a unique and pathologically intriguing case of spontaneous MV perforations, characterized by dual mirror-image perforations in both the AML and posterior mitral leaflet (PML), a finding not previously described in the literature.

Case presentation

A 52-year-old man presented with a 10-year history of exertional dyspnea, which had worsened in the past week. He had no remarkable medical or surgical history. Physical examination revealed a grade 3/6 apical systolic murmur radiating to the axilla, an irregular heart rate of 98 beats per minute, a blood pressure of 138/72 mmHg, and a normal temperature of 36.3 °C. The electrocardiogram showed atrial fibrillation, left ventricular hypertrophy, and ST-T wave abnormalities (Figure 1). Transthoracic and transesophageal echocardiography revealed the following: (I) symmetric A2 and P2 segmental perforations in the AML and PML on two-dimensional imaging (Figure 2A-2C and Videos S1-S3); (II) severe mitral regurgitation through the symmetric A2 and P2 segmental perforations on color Doppler imaging (Figure 2D-2F and Videos S4-S6); and (III) an enlarged left atrium with preserved cardiac function, with no significant aortic regurgitation or evidence of mitral annular calcification or valvular vegetation. Laboratory analysis showed a mildly elevated B-type brain natriuretic peptide of 106 pg/mL and a high erythrocyte sedimentation rate of 22 mm/h. Other laboratory tests were within normal reference ranges or negative, including complete blood count, serum electrolytes, coagulation function, hepatic function, renal function, blood cultures, C-reactive protein, rheumatoid factor, anti-RA33 antibody, antinuclear antibodies, and anti-cyclic citrullinated peptide antibody. The patient subsequently underwent surgical MV repair.

Figure 1 Electrocardiogram imaging showed atrial fibrillation, left ventricular hypertrophy, and ST-T wave abnormalities.

Figure 2 Echocardiography imaging showed symmetric perforations involving the A2 segment of the AML and the P2 segment of the PML in the transthoracic apical 3-chamber view (A), transthoracic apical 4-chamber view (B), and transesophageal long-axis view (C). Color Doppler flow imaging showed severe mitral regurgitation through the symmetric A2 and P2 segmental perforations in the transthoracic apical 3-chamber view (D), transthoracic apical 4-chamber view (E), and transesophageal 4-chamber view (F). AML, anterior mitral leaflet; LA, left atrium; LV, left ventricle; PML, posterior mitral leaflet; RA, right atrium; RV, right ventricle.

During surgery, two symmetrically positioned 10-mm round holes with smooth margins and regular contours were identified as mirror-image perforations in the A2 and P2 segments of the AML and PML (Figure 3A). All papillary muscles were intact, with no leaflet prolapse, vegetations, calcifications, or tumors. MV repair and annuloplasty were then performed. The perforations were closed with 5-0 Prolene sutures using a bovine pericardial patch (Figure 3B), followed by the implantation of a 30-mm Medtronic annuloplasty ring. The postoperative course was uneventful. At the 1-year follow-up, the patient remained asymptomatic. Transthoracic echocardiography showed normal cardiac function without mitral regurgitation.

Figure 3 Intraoperative imaging showed two mirror-image perforations symmetrically located in the A2 and P2 segments of the AML and PML (A). The perforations were repaired with bovine pericardial patch using 5-0 Prolene sutures (B). AML, anterior mitral leaflet; PML, posterior mitral leaflet.

All the procedures in this study were performed in accordance with the ethical standards of the institutional and/or national research committee(s), and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient for the publication of this article and the accompanying images. A copy of the written consent form is available for review by the editorial office of this journal.

Discussion

MV perforation is characterized by holes or defects in the MV leaflets, resulting in impaired valve function, frequently accompanied by significant regurgitation. It is classically associated with infective endocarditis directly affecting the MV, but it may also occur secondary to eccentric aortic regurgitation caused by aortic valve endocarditis (10). Affected patients typically present with fever, positive blood cultures, and echocardiographic findings such as vegetations and periannular abscesses.

Non-infective MV perforation is rare and primarily occurs in four contexts: (I) autoimmune diseases, particularly systemic lupus erythematosus-associated Libman-Sacks endocarditis, where diagnosis depends on a history of autoimmune disease and positive autoimmune markers; (II) cardiac surgery complications following procedures such as aortic valve replacement, atrial septal defect closure, or radio-frequency ablation, with a clear surgical history confirming the diagnosis; (III) congenital MV perforations, which are poorly documented in the literature—no confirmed cases of fetal MV perforation have been reported to date. In a surgical series of 106 pediatric patients undergoing MV repair or replacement, three cases of MV perforation were incidentally discovered during ventricular septal defect correction. Nevertheless, the lack of prenatal imaging precludes definitive confirmation of a congenital origin (11); and (IV) other etiologies, including mitral annular calcification and mitral tumors, where characteristic imaging findings such as calcification or masses facilitate diagnosis.

Spontaneous MV perforation refers to an unprovoked perforation without evidence of an infectious or non-infectious etiology. In the present case, the perforation was classified as spontaneous due to the absence of aforementioned predisposing factors (i.e., infective endocarditis, an autoimmune disease, a cardiac surgery complication, a mitral calcification, or a tumor).

This condition is sporadic. Only two documented cases were identified in our literature review. The first case involved a 22-year-old man presenting with a perforation in the AML, concurrent with a bicuspid aortic valve and severe eccentric aortic regurgitation (8). Notably, the aortic regurgitation was considered a potential contributing factor, distinguishing it from our case, which lacked this hemodynamically significant factor. The second case described a 62-year-old man with an isolated AML perforation and no identifiable predisposing factors (9). Unlike these two cases, which each featured a single perforation in the AML, the patient in the present case presented with a unique mirror-image perforation pattern, involving two symmetrical holes in the AML and PML.

Conclusions

This case describes an exceptionally rare instance of spontaneous MV perforations featuring symmetric dual leaflet defects, with no identifiable cause. The lack of typical risk factors made this case a diagnostic and mechanistic enigma. However, the patient was eventually successfully treated by surgical repair.

Acknowledgments

None.

Footnote

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://qims.amegroups.com/article/view/10.21037/qims-2025-518/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient for publication of this article and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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