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Published on: May 19, 2020
Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome
Koichi Nishida1, Satoshi Tamura1, Sachiko Yamazaki2
1Department of Pediatrics, Fukui Cardiovascular Center, Fukui, Japan.
Insights
This case study details an infant with Loeys-Dietz syndrome (LDS) experiencing spontaneous mitral leaflet rupture, a previously unreported complication. Early surgical interventions were complicated by progressive mitral regurgitation and leaflet tears, ultimately requiring valve replacement.
Area of Science:
- Cardiovascular Medicine
- Pediatric Cardiology
- Medical Genetics
Background:
- Loeys-Dietz syndrome (LDS) is a genetic disorder associated with aortic and arterial abnormalities.
- Cardiovascular complications are common in LDS, often leading to significant morbidity and mortality.
- Spontaneous mitral valve leaflet rupture is a rare and severe complication not previously documented in LDS.
Observation:
- An infant diagnosed with Loeys-Dietz syndrome (LDS) and type B interruption of the aortic arch underwent initial cardiac surgery.
- Postoperative mitral regurgitation progressed, necessitating further interventions.
- Intraoperative findings revealed severe rupture of the mitral valve leaflets.
Findings:
- The patient experienced progressive mitral regurgitation following initial cardiac repair.
- Mitral valvuloplasty revealed a severely ruptured anterior leaflet.
- Subsequent worsening of mitral insufficiency led to a fourth surgery and mitral valve replacement due to tears in both anterior and posterior leaflets.
- Genetic testing confirmed Loeys-Dietz syndrome.
Implications:
- This case highlights spontaneous mitral leaflet rupture as a novel and severe cardiovascular complication of Loeys-Dietz syndrome in infancy.
- The findings underscore the need for vigilant cardiac monitoring in infants with LDS, even after initial surgical correction.
- Further research is warranted to understand the pathophysiology and optimal management strategies for this rare complication.
Abstract:
This report describes an infantile case of Loeys-Dietz syndrome (LDS) with spontaneous mitral leaflet rupture. The patient was diagnosed with a type B interruption of the aortic arch. Bilateral pulmonary artery banding was performed 5 days after birth. On the 53rd day, intra-cardiac repair was performed without valvuloplasty. Although the operation was successful, mitral regurgitation deteriorated at 4 weeks after operation. On the 88th day, a mitral valvuloplasty was performed and a severely ruptured anterior leaflet was observed. Seven days after valvuloplasty, the mitral valve insufficiency again worsened and a fourth operation was performed. Two tears were observed in the anterior and posterior mitral valve leaflets, and a mitral valve replacement was required. Subsequently, the patient was diagnosed with LDS according to gene mutational status. LDS is known to have a poor prognosis with cardiovascular complications, but valve rupture has not been previously reported in other cases.
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