Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?

European Journal of Medical Genetics
Thomas EdouardEric Bieth

Abstract

Polyvalvular heart disease has been reported in a handful of "private" syndromes that have been recently suggested to represent a single dominantly inherited condition, the polyvalvular heart disease syndrome. We report five cases in two unrelated families (one sporadic case in the first family and three siblings and their father in the second family) with the same association of polyvalvular heart disease, distinctive facial appearance, and, except the father in family 2, major joint hypermobility. Interestingly, in three of our patients (2 siblings and the sporadic case), electron microscopy revealed characteristic ultrastructural skin abnormalities with abnormal amorphous or microfibrillar deposits under the capillary basal membrane in the papillary dermis, suggestive of a connective tissue disorder, but different from Marfan syndrome or Ehlers-Danlos syndrome. Moreover, in family 2, three others sibs died in early infancy of their heart defect. Our two families and the other published cases might illustrate intrafamilial and interfamilial variability within a single condition. However, our two families disclose major joint hypermobility, normal stature, and ultrastructural skin abnormalities that were not described in the p...Continue Reading

References

Sep 1, 1973·Annals of the Rheumatic Diseases·P BeightonC L Soskolne
Apr 15, 1993·American Journal of Medical Genetics·R F StrattonR J Jorgenson
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Citations

Oct 12, 2017·European Heart Journal·Thierry Le TourneauJean-Jacques Schott
Feb 20, 2018·Echocardiography·Edmund Kenneth KerutJames J McKinnie

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