[source]
pmid = PMID:25163805
title = Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation
[diagnosis]
disease_id = OMIM:614816
disease_label = Loeys-Dietz syndrome 4
[text]
The proposita (Figure 1A) was a 57-year-old woman with family history remarkable for CTD in her two 39- and 34-year-old daughters.
She was born from unrelated Italian parents after an uneventful pregnancy and delivery. Her perinatal and psychomotor development was normal.
Two pregnancies resulted in the birth of two daughters. In the first pregnancy she reported premature membrane rupture at 34 weeks, and
in the second a threatened abortion. The spontaneous menopause was at 50 years. Clinical history presented widespread signs of CTD.
Since the childhood sub/luxations of the shoulders, wrists, knees and ankles were occurring. She suffered from acute articular rheumatism,
diagnosed at 9 years, and right relapsing inguinal hernia, surgically treated at 9, 25, and 40 years. Since her twenties, she referred
chronic generalized articular pain, mainly affecting her back, treated with NSAIDs. Magnetic resonance imaging (MRI), performed at 42 years,
revealed dural ectasia, lumbar discal hernias (L5-S1) and hypoplasia of the twelfth ribs (Figure 1B). Clinical history also included
crural hernia, surgically treated at 25 and 40 years, hiatal hernia with gastroesophageal reflux, chronic headache, gingival fragility,
and easy bruising. Ectopia lentis was excluded by ophthalmologic evaluation. ECG and echocardiography, performed at 49 years for tachycardia,
discovered paroxysmal supraventricular tachycardia and MVP with minimal regurgitation and normal systolic function (EF 65%).
Following this analysis she underwent cryoablation therapy. At this age the aortic root diameter was normal. On examination at 56 years,
she presented with normal stature (1,63 m), light blue sclerae, high arched palate, micrognathia, elongated philtrum, hypoplasic uvula,
doughy and hyperextensible skin over the neck, the forearm, and the elbows, old aging aspect, striae distensae over the hips,
joint hypermobility according to Beighton score (9/9), and scoliosis (Figure 1A). A brain, thoracic and abdominal MRA revealed
tortuosity and ectasia of carotid, vertebral, and cerebral arteries, and marked tortuosity of two segmental pulmonary arteries (Figure 1B).
No other vascular abnormalities were detected.