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  • Title: [Familial Marfan's syndrome. A critical review and presentation of a clinical case].
    Author: Iannello S, Spina M, Prestipino M, Strano AM, Bellassai M, Politi G, Belfiore F.
    Journal: Minerva Med; 1996 May; 87(5):217-35. PubMed ID: 8700348.
    Abstract:
    Aim of this paper is to describe and discuss, on the basis of an exhaustive review of literature, the case of a 14-year-old girl with familiar Marfan's syndrome. This disease is a generalized inherited disorder with involvement of connective tissue and symptoms affecting ocular, skeletal and cardio-vascular systems, usually diagnosed in young age and associated with a poor prognosis because of late severe aortic complications (dissection, dilation or aneurysms, regurgitation, etc.). The young patient sought to our medical attention because of severe leanness, delayed menarca and irregular menstruations; physical examination disclosed the typical "morphotype of Marfan" with long limbs, slenderness of hands and feet, severe kyphoscoliosis, narrow chest with "pectus excavatum", marked hyperextensible joints, and high arched palate with malocclusion. Echocardiography demonstrated a mild mitral valve prolapse. The 43-year-old patient's mother presented an undiagnosed Marfan's syndrome, despite typical morphotype, muscle-skeletal alterations and moderate dilation of ascending aorta. The maternal grand-mother deceased prematurely for cardiopathy of unknown origin. It is stressed that the disease should not be underestimated, because the early diagnosis is important for the patient's prognosis, allowing the early preventive surgical intervention for correcting aortic or valvular alterations. The echocardiography represents a sensitive and noninvasive mean, useful to manage the patients with proven or suspected aortic dilation. The subjects with Marfan's syndrome who exhibit rapid progression of aortic dilation, or an aortic diameter in excess of 50 mm, should be considered for an elective surgical intervention (at low mortality and suitable to increase remarkably the lifetime expectation). Women with syndrome of Marfan should be advised on the high cardio-vascular risk during pregnancy.
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