The Relationship Between Gene Subtypes, Symptoms, and Cardiac Function in Patients with Familial Mediterranean Fever

Area of Science:

• Cardiology
• Genetics
• Rheumatology

Background:

• Familial Mediterranean fever (FMF) is a chronic autoinflammatory disease.
• FMF can impact cardiac structure and function.
• The influence of MEFV gene subtypes on FMF cardiac manifestations is not well understood.

Purpose of the Study:

• To investigate the association between MEFV gene subtypes and clinical features in FMF patients.
• To evaluate the impact of MEFV gene subtypes on subclinical cardiac changes using echocardiography and strain analysis.
• To determine if FMF genotype correlates with cardiac function and clinical phenotype.

Main Methods:

• Prospective study of 98 FMF patients.
• Screening for 12 MEFV gene mutations, focusing on M694V homozygous (Gene-1), M694V heterozygous (Gene-2), and M680I heterozygous (Gene-3) subtypes.
• Transthoracic echocardiography and speckle-tracking strain analysis were performed on all patients.

Main Results:

• Gene-1 mutation was associated with earlier disease onset, longer disease duration, higher disease activity, and reduced left atrial contractile strain.
• Gene-2 mutation correlated with increased arthralgia frequency and better preserved left atrial contractile strain compared to mutation-negative patients.
• No significant associations were found between Gene-3 mutation and clinical or cardiac parameters.

Conclusions:

• MEFV gene subtypes significantly influence the clinical phenotype and cardiac function in FMF.
• Genotype-specific cardiac monitoring and risk stratification are crucial for managing FMF patients.
• Understanding genotype-phenotype correlations aids in personalized FMF management.