X-linked cardiac valvular dysplasia (CVDPX) is an X-linked filaminopathy caused by mutations of the FLNA gene (Lardeux et al. 2011). This gene encodes filamin A. The paramount manifestation of this abnormality is mainly the pure involvement of heart valves with myxomatous pattern of dysplasia. Due to the X-linked recessive pattern of inheritance, the male hemizygotes inherit this disease with full complete penetrance and have more severe phenotypes. In contrast, the disease is inherited with incomplete penetrance and variable degrees of expression in female carriers because of different patterns of X-inactivation (Kyndt et al. 2007). In 1969, three generations of a family were studied in which six members suffered from congenital valvular heart disease (Monteleone and Fagan 1969). Ever since then, multiple families with similar inheritance and characteristics of heart valve disease have been reported (Newbury-Ecob et al. 1993; Lardeux et al. 2011; Ritelli et al. 2017; Le Tourneau et al. 2018).