Alkaptonuria‐Associated Aortic Stenosis

Alkaptonuria is an autosomal recessive disorder of tyrosine metabolism, which results in accumulation of unmetabolized homogentisic acid and its oxidized product in various tissues, including the heart. Cardiovascular involvement is a rare but serious complication of the disease. We present two patients who have undergone successful aortic valve replacement for alkaptonuria‐associated aortic stenosis along with a review of the literature. doi: 10.1111/jocs.12129 (J Card Surg 2013;28:417–420)

[1]  M. Ono,et al.  Aortic valve replacement for aortic stenosis caused by alkaptonuria. , 2013, The Annals of thoracic surgery.

[2]  W. Gahl,et al.  Aortic stenosis and vascular calcifications in alkaptonuria. , 2012, Molecular genetics and metabolism.

[3]  T. Helliwell,et al.  Alkaptonuria – a review of surgical and autopsy pathology , 2008, Histopathology.

[4]  Mattias Roser,et al.  Alkaptonuric aortic stenosis. , 2008, European heart journal.

[5]  M. Kaiser-Kupfer,et al.  Use of nitisinone in patients with alkaptonuria. , 2005, Metabolism: clinical and experimental.

[6]  William A Gahl,et al.  Natural history of alkaptonuria. , 2002, The New England journal of medicine.

[7]  S. Rodríguez de Córdoba,et al.  Structural and functional analysis of mutations in alkaptonuria. , 2000, Human molecular genetics.

[8]  P. Herijgers,et al.  Aortic stenosis in endogenous ochronosis. , 1999, The Journal of heart valve disease.

[9]  P. Toutouzas,et al.  Aortic Stenosis and Coronary Artery Disease Caused by Alkaptonuria, a Rare Genetic Metabolic Syndrome , 1999, Cardiology.

[10]  M. Durán,et al.  The success of dietary protein restriction in alkaptonuria patients is age-dependent , 1998, Journal of Inherited Metabolic Disease.

[11]  Bonnie K. Lind,et al.  Clinical factors associated with calcific aortic valve disease. Cardiovascular Health Study. , 1997, Journal of the American College of Cardiology.

[12]  Catherine M. Otto,et al.  Clinical Factors Associated With Calcific Aortic Valve Disease , 1997 .

[13]  L. Gould,et al.  Cardiac manifestations of ochronosis. , 1976, The Journal of thoracic and cardiovascular surgery.

[14]  T. Benedek.  Rudolph virchow on ochronosis , 1966 .

[15]  J. J. Bunim,et al.  Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: Review of world literature (1584–1962) , 1963 .

[16]  A. Garrod.  The Croonian Lectures ON INBORN ERRORS OF METABOLISM. , 1908 .

[17]  W. Osler.  OCHRONOSIS: THE PIGMENTATION OF CARTILAGES, SCLEROTICS, AND SKIN IN ALKAPTONURIA. , 1904 .

[18]  Cardiovascular Ultrasound BioMed Central , 2005 .

[19]  T. Cooke,et al.  Ochronotic arthropathy: case report and review of the literature , 1999, International Orthopaedics.

[20]  U. Almagro,et al.  Cardiovascular ochronosis: a case report and review of the medical literature. , 1990, Cardiology.

[21]  J. Gaines.  The pathology of alkaptonuric ochronosis. , 1989, Human pathology.

[22]  J. Gaines,et al.  Cardiovascular ochronosis. , 1987, Archives of pathology & laboratory medicine.

[23]  E. Gilbert.  The effects of metabolic diseases on the cardiovascular system. , 1987, The American journal of cardiovascular pathology.

[24]  R. Virchow.  Rudolph Virchow on ochronosis.1866. , 1966, Arthritis and rheumatism.

[25]  J. Seegmiller,et al.  The nature of the defect in tyrosine metabolism in alcaptonuria. , 1958, The Journal of biological chemistry.

[26]  O. K. Skinsnes.  Generalized ochronosis; report of an instance in which it was misdiagnosed as melanosarcoma, with resultant enucleation of an eye. , 1948, Archives of pathology.