Iske, Jasper and Roesel, Maximilian J. and Cesarovic, Nikola and Pitts, Leonard and Steiner, Annabel and Knoedler, Leonard and Nazari-Shafti, Timo Z. and Akansel, Serdar and Jacobs, Stephan and Falk, Volkmar and Kempfert, Joerg and Kofler, Markus (2023) The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse. JOURNAL OF CLINICAL MEDICINE, 12 (23): 7441. ISSN 2077-0383
Full text not available from this repository. (Request a copy)Abstract
Mitral valve prolapse (MVP) is common among heart valve disease patients, causing severe mitral regurgitation (MR). Although complications such as cardiac arrhythmias and sudden cardiac death are rare, the high prevalence of the condition leads to a significant number of such events. Through next-generation gene sequencing approaches, predisposing genetic components have been shown to play a crucial role in the development of MVP. After the discovery of the X-linked inheritance of filamin A, autosomal inherited genes were identified. In addition, the study of sporadic MVP identified several genes, including DZIP1, TNS1, LMCD1, GLIS1, PTPRJ, FLYWCH, and MMP2. The early screening of these genetic predispositions may help to determine the patient population at risk for severe complications of MVP and impact the timing of reconstructive surgery. Surgical mitral valve repair is an effective treatment option for MVP, resulting in excellent short- and long-term outcomes. Repair rates in excess of 95% and low complication rates have been consistently reported for minimally invasive mitral valve repair performed in high-volume centers. We therefore conceptualize a potential preventive surgical strategy for the treatment of MVP in patients with genetic predisposition, which is currently not considered in guideline recommendations. Further genetic studies on MVP pathology and large prospective clinical trials will be required to support such an approach.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | VALVULAR HEART-DISEASE; TERM-FOLLOW-UP; EUROPEAN ASSOCIATION; SUDDEN-DEATH; NATURAL-HISTORY; FILAMIN-A; REGURGITATION; MUTATIONS; RISK; REPAIR; mitral valve prolapse; minimally invasive surgery; genetic predisposition; minimally invasive mitral valve reconstruction; DZIP1; TNS1; filamin A |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Zentren des Universitätsklinikums Regensburg > Zentrum für Plastische-, Hand- und Wiederherstellungschirurgie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 May 2024 07:12 |
| Last Modified: | 14 May 2024 09:24 |
| URI: | https://pred.uni-regensburg.de/id/eprint/60706 |
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