Introduction: FLNA gene codes the protein filamin A that builds the cell cytoskeleton and plays the role in regulating skeletal and brain development, formation of heart tissue and blood vessels, blood clotting, skin elasticity, etc. (1,2) It is found on the X chromosome and has X linked inheritance. Cardiovascular abnormalities include dilatation and rupture of the thoracic aorta, outflow tract malformations, valvular dysplasia, patent ductus arteriosus (PDA), atrial and ventricular septal defects, etc (3,4). Individuals diagnosed with FLNA mutation are usually females because this condition is prenatal/neonatal lethal in most males. (3)
Case report: 19-year-old young man was referred for further follow up due to FLNA mutation (c.4240T>Ap.Tyr1414Asn) and worsening of the left ventricular (LV) function. He was under pediatric cardiologist’s surveillance since birth due to PDA, that was percutaneously closed at the age of 3 years. Regular echocardiography exams revealed myxomatous valves and dilation of the left ventricle. On the CMR dilated LV (EDV 147/ml/m2) with EF of 52% was described, as well as morphological changes of the mitral valve, but no mitral regurgitation (MR). Cardiac CT showed no dilation of the aorta. Genome sequencing was performed and FLNA mutation was found. Afterwards, the same mutation was found in his mother (heterozygotic), whose echocardiogram was normal except mild mitral and tricuspid regurgitation. Our patient was born from mother’s third pregnancy. The first pregnancy ended with a miscarriage, while from the second pregnancy apparently healthy female was born (genetic testing pending). Echocardiography revealed severely dilated left ventricle with reduced ejection fraction (EDV 114ml/m2, LVEF 40%), dilation of the right ventricle (46mm in the apical 4-chamber view) and severe MR (Figures 1-4{ label needed for fig[@id='f2'] }{ label needed for fig[@id='f3'] }{ label needed for fig[@id='f4'] }). All heart valves were severely myxomatous with prolapse of the cusps, but with no other significant valvular heart disease. After the new CMR, he will be referred for cardiac surgery.
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Conclusion: Spectrum of FLNA mutation phenotype is wide. The most common phenotype in males is valvular dysplasia. Due to complex changes in the structure and morphology of the mitral valve, diagnosis of MR is challenging.