Valve Replacement for Progressive Mitral Valve Stenosis Associated with Geleophysic Dysplasia / 日本心臓血管外科学会雑誌

ABSTRACT

The patient was an 8-years- and 4-months old girl. At the age of one, she visited a previous doctor with hepatomegaly and liver dysfunction. As a result of the examination, she was diagnosed with geleophysic dysplasia. Other than the heart, she was followed in genetics, ophthalmology, orthopedics, endocrinology, and otolaryngology. At 3 years and 5 months, she was first examined by the cardiology department and was found to have mild mitral regurgitation and aortic valve stenosis, and was followed up once a year. The patient was referred to our hospital at 7 years and 11 months, and the cardiac catheterization performed at 8 years and 2 months showed mild mitral valve regurgitation, but the mean pressure gradient was 16 mmHg and the mitral valve area was 0.60 cm2 (MVAi 0.97 cm2/m2), and mitral valve stenosis was observed. The left atrial pressure was as high as 25 mmHg and the average pulmonary artery pressure was as high as 36 mmHg, and pulmonary hypertension was also observed. Intraoperative findings demonstrated that the mitral valve had a marked thickening of the leaflet, the papillary muscles and chordae were also thickened, and the effective valve opening area was narrowed. The leaflet and subvalvular tissue were resected as much as possible and mechanical valve replacement was performed. Postoperatively, the patient recovered satisfactorily and was discharged on the 16th postoperative day. Pathological findings showed no major disturbance in the layered structure of the papillary muscle or the leaflet itself, but it was highly thickened due to mucous degeneration of the leaflet. We report our experience with the rare case described above.