| Abstract [eng] |
This master’s thesis explores the rare but significant condition of fatty infiltration of the mitral valve (FIMV), characterized by the accumulation of adipose tissue within the valve structure. It is a pathological process that can impair valve coaptation and lead to mitral regurgitation (MR), a condition associated with substantial morbidity. The thesis aims to investigate the relationship between FIMV and MR through an in-depth case study, literature review, and analysis of diagnostic and therapeutic approaches. A included comprehensive case report highlights the clinical presentation, diagnostic challenges, and therapeutic approach. It presents the case of a 62-year-old male with a history of progressive heart failure and severe MR requiring mitral valve replacement (MVR). Histological examination of the excised valve revealed fatty infiltration as the primary structural abnormality. The patient’s clinical course, marked by worsening dyspnoea, atrial fibrillation, and pulmonary hypertension. Despite optimal medical therapy, surgical intervention was required to alleviate symptoms and prevent further cardiac deterioration. Following MVR with a mechanical prosthesis, the patient experienced symptomatic improvement. Diagnosing FIMV remains difficult due to its rarity and nonspecific clinical presentation. Standard imaging modalities like transthoracic and transoesophageal echocardiography may fail to differentiate fatty infiltration from other structural abnormalities. Therapeutically, severe MR due to FIMV often necessitates surgical repair or replacement, particularly when symptoms persist despite medical therapy. Minimally invasive techniques like transcatheter edge to-edge repair (TEER) may not be suitable in anatomically complex cases caused by FIMV, leaving conventional surgery as the standard treatment option. This thesis highlights the need for further research to better understand the mechanisms driving FIMV and its clinical significance. Future studies should investigate its prevalence, aetiology and genetic or metabolic predisposition. By integrating clinical findings, imaging, and histology, this work contributes to the understanding and management of FIMV, aiming to improve diagnostic accuracy and therapeutic outcomes for affected patients. |
