Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28
Jean-Noël Trochu, MD*,
Florence Kyndt, PhD ,
Jean-Jacques Schott, PhD,
Jean-Pierre Gueffet, MD*,
Vincent Probst, MD*,
Bernard Bénichou, MD, PhD  and
Hervé Le Marec, MD, PhD*
* Clinique Cardiologique et des Maladies Vasculaires, Hôpital G&R Laennec, CHU de Nantes, Nantes, France
Laboratoire de Physiopathologie et Pharmacologie Cellulaire et Moléculaire, INSERM CJF 96-01, Nantes, France
Service de Génétique Médicale CHU de Nantes, Nantes, France
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Figure 1 Pedigree of the family. Black symbols denote males simultaneously affected by severe X-linked myxoid valvular dysplasia and hemophilia A, and hatched symbols indicate women showing abnormalities in echocardiography. Markers are not shown in order to simply the figure. Black bars represent the markers inherited from the ancestor who transmitted the disease. Marker order was as follows (top to bottom): DXS998, DXS8091, DXS8011, DXS8061, INT-13 and DXS1108. Blackened arrows indicate recombinations of parental alleles. A recombination event in male III-5 with a normal phenotype allowed us to delineate the linked area between marker DXS8011 and Xqter.
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Figure 2 Parasternal long-axis two-dimensional view, at end diastole (A) and end systole (B), performed in an affected male (Patient IV-48), showing the structural abnormalities of the mitral valve with thickening of mitral valve leaflets (A) and a mild prolapse (B).
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Figure 3 Comparison of F.VIII activity of males affected by the valvular disease (A, 32 ± 9%), heterozygous women (B, 75 ± 26%) and nonaffected members (C, 105 ± 35%). Affected males have a significantly lower F.VIII activity (p < 0.0001) than heterozygous and normal subjects. Heterozygous women have significantly lower F.VIII activity (p < 0.02) than normal subjects.
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