title: Decreased myocardial taurine levels and hypertaurinuria in a kindred with mitral-valve prolapse and congestive cardiomyopathy.
abstract: In a 46-member kindred with consanguineous ancestry, eight progeny in two generations had congestive cardiomyopathy and markedly elevated urinary taurine levels (range, 411 to 536 mg per gram of creatinine [normal +/- S.D., 89 +/- 32]). Ten other family members had late or holosystolic mitral-valve prolapse, and elevated urinary taurine values (range, 215 to 265 mg). In two with mitral-valve prolapse, congestive cardiomyopathy eventually developed while the amounts of urinary taurine doubled. One member with mitral-valve prolapse died suddenly; histologic examination revealed myocardial fibrosis in the papillary muscles and myocardial taurine values of 16.9 +/- 3.0 mumol per gram of protein (normal +/- S.E., 33.2 +/- 3.6). Four other family members with congestive cardiomyopathy had myocardial fibrosis at autopsy or biopsy and mean myocardial taurine levels of 9.2 +/- 2.2 mumol. We conclude that hypertaurinuria and depressed levels of taurine in the myocardium may be associated with one type of mitral-valve-prolapse syndrome and a rapidly progressive form of congestive cardiomyopathy.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000596:Amino Acids / Q000378:metabolism; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004452:Echocardiography; D005260:Female; D006333:Heart Failure / Q000150:complications; D006801:Humans; D008297:Male; D008875:Middle Aged; D008945:Mitral Valve Prolapse / Q000150:complications / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism*; D010375:Pedigree; D013577:Syndrome; D013654:Taurine / Q000378:metabolism* / Q000652:urine*
chemical_list: D000596:Amino Acids; D013654:Taurine