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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Fig. 2

Clinical characterization of cohort 1. A Inter-individual phenotypic variability: Schematic representation of features in the whole body. 1/ Bifid uvula in daughter of index-case#2. Her phenotype is similar to her mothers’, including seizures, and PNH. Angio-CT scan demonstrated dilation of both the ascending aorta (43 mm) and the pulmonary artery without arterial tortuosity. 2/ Mother of index-case#1 had an unexpected 140 mm-diameter TAAA (associated to a bicuspid aortic valve not shown). She died at 62 from dissection. 3/ Pulmonary artery dilatation (55 mm) in index-case #5. She was referred for idiopathic Pulmonary arterial Hypertension (PAH) associated with syndromic aortopathy. CV examination revealed major dilatation of pulmonary artery (55 mm), aortic dilatation at the sinus of Valsalva (52 mm) and a mild mitral valvulopathy. 4/ Emphysema of unknown origin in index-case #1: She presented a TAAA, JHL, a minor scoliosis, easy bruises and enlarged scars. 5/ SHE in index-case#7: Clinical examination revealed some CTD features: JHL with major hypermobility (Beighton score 9/9), kyphoscoliosis, thin and translucent skin, spontaneous bruising and atrophic scars along with acrogeria and moderate arachnodactyly. 6/ Severe varicose veins due to chronic venous insufficiency in the foot of index-case#3. She was operated for TAAA and had pulmonary artery dilation with PAH. Clinical examination found velvety skin without SHE, JHL (Beighton score 5/9) and scoliosis along with disorders of the temporomandibular joint. B Intra-famillial phenotypic variability. Family 9 pedigree. Index-case #9 (III-2), 30 year-old, had an aortic aneurysm (Z-score at Valsalva Sinus = 2.44), a leaky aortic valve and JHL. Cerebral MRI previously performed for seizures had revealed PNH. Molecular analysis identified an FLNA pathogenic LoF variant c.6772G>T, p.(Glu2258*).Clinical evaluation of the mother (II-2) did not reveal neurological symptom, neither JHL nor SHE. CV evaluation wasn’t available. The sister (III-3) had JHL and an aortic valve insufficiency without aortic aneurysm nor seizures. The cousin (III-5) had aortic dilation (Z-score at Valsalva Sinus = 2.4), normal aortic valve function, and absence of JHL and seizures. Her mother (II-3) had a mitral valve insufficiency and an aortic dilatation (Z-score at Valsalva Sinus = 3.5) without CTD features or seizures. The grand-mother (I-1) had aortic valve dysfunction, but her complete clinical evaluation was not available. In this pedigree, none of the six relatives carrying the FLNA pathogenic variant had neurological symptoms

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