What are the risk factors for mitral valve prolapse?

Risk Factors for Mitral Valve Prolapse

The primary risk factors for mitral valve prolapse include genetic predisposition, connective tissue disorders, and specific anatomical abnormalities of the mitral valve apparatus.

Genetic and Congenital Risk Factors

• Familial/Genetic Predisposition:

  • Autosomal dominant inheritance is the primary mode of transmission 1
  • Several chromosomal loci have been identified 2
  • Specific genes identified include FLNA, DCHS1, and DZIP1 in myxomatous forms 1

• Connective Tissue Disorders:

  • Marfan syndrome 2, 1
  • Ehlers-Danlos syndrome 2
  • Loeys-Dietz syndrome 2
  • Osteogenesis imperfecta

Anatomical and Structural Risk Factors

• Mitral Valve Abnormalities:

  • Myxomatous degeneration of mitral valve leaflets 2, 3
  • Elongation and/or thinning of chordae tendineae 2
  • Abnormal leaflet coaptation 2

• Thoracic Skeletal Abnormalities:

  • Straight thoracic spine 2
  • Pectus excavatum 2
  • Low body weight 4

Demographic Risk Factors

• Sex:

  • Higher risk of complications in males, particularly older men 4
  • Possible syndrome for SCD includes female sex 2

• Age:

  • Risk of complications increases with age, particularly after 45 years 4
  • Fibroelastic deficiency form is associated with aging 1

Associated Cardiovascular Conditions

• Other Valvular Involvement:

  • Tricuspid valve prolapse (occurs in 40% of patients with MVP) 2
  • Pulmonic and aortic valve prolapse (2-10% of patients with MVP) 2

• Cardiac Abnormalities:

  • Increased incidence of secundum atrial septal defect 2
  • Left-sided atrioventricular bypass tracts 2
  • Low blood pressure 4
  • Orthostatic hypotension 4

Clinical Implications and Risk Stratification

High-risk features that predict complications include:

• Leaflet thickness ≥5 mm 2, 5
• Moderate to severe mitral regurgitation 5, 4
• Left ventricular dysfunction (EF ≤60%) 5
• Left atrial enlargement 5
• Flail leaflet 5
• Male gender and age over 45 years 4

Common Pitfalls in Risk Assessment

• Misdiagnosis: Distinguishing MVP from rheumatic valve disease is crucial, as treatment approaches differ significantly 5
• Overdiagnosis: Not all systolic clicks or murmurs indicate MVP; proper echocardiographic criteria must be met 5
• Risk Stratification: Failing to identify high-risk patients who require closer monitoring (those with leaflet thickening, significant MR, or ventricular arrhythmias) 2, 5

Understanding these risk factors is essential for proper patient evaluation, risk stratification, and management planning in patients with mitral valve prolapse.