Distichiasis, congenital heart defects and mixed peripheral vascular anomalies.
We report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically. Three of the five have edema, two have visible varicosities, three have symptoms consistent with chronic venous disease of the legs, and the older daughter has complaints consistent with arterial disease in the legs. Doppler flow studies demonstrated post-phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.
D000293:Adolescent; D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D004487:Edema / Q000235:genetics; D004562:Electrocardiography; D005140:Eyelashes / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006330:Heart Defects, Congenital / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D014648:Varicose Veins / Q000235:genetics; D014652:Vascular Diseases / Q000235:genetics*; D014689:Venous Insufficiency / Q000235:genetics