title: Coronary artery disease in Alström syndrome.
abstract: Alström syndrome (ALMS) is a rare autosomal recessive condition, caused by mutations in the ALMS1 gene located on the short arm of chromosome 2. This gene codes for a protein linked with the centrosome, whose precise function is unknown. This condition was first described by Alström in 1959. ALMS is a multisystem condition that is characterised by childhood onset of blindness secondary to rod-cone retinal degeneration and dilated cardiomyopathy with heart failure, which often presents in infanthood and may recur later in life. Metabolic abnormalities including hypertriglyceridemia, liver steatosis, insulin resistance and type 2 diabetes mellitus are common, often occurring in association with obesity. Other abnormalities include endocrinological disturbances, such as thyroid disorder, growth hormone deficiency, hypogonadism and, in women, hyperandrogenism. This syndrome is also associated with sensorineural hearing loss, renal failure secondary to glomerulo-fibrosis, and fibrotic lung disease. Multiorgan fibrotic infiltration is the common feature in all cases. Considering the history of diabetes, hypertension, dyslipidemia, obesity and renal dysfunction in ALMS, it would be expected that this group of patients could develop coronary artery disease (CAD). But such cases have not been reported so far. We report a case of premature onset of CAD in one of the longest surviving patient with ALMS.
authors: Department of Cardiology, Lancashire Cardiac Centre, Blackpool Victoria Hospital, Blackpool, UK. kumarjatti@yahoo.com
authors: Kumar
authors: K
authors: Jatti
authors: Richard
authors: R
authors: Paisey
authors: Ranjit
authors: R
authors: More
mesh_terms: D000328:Adult; D056769:Alstrom Syndrome / Q000150:complications / Q000235:genetics*; D017130:Angioplasty; D001766:Blindness / Q000235:genetics; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000150:complications / Q000235:genetics* / Q000628:therapy*; D004700:Endocrine System Diseases / Q000235:genetics; D006801:Humans; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics; D009765:Obesity / Q000235:genetics; D035583:Rare Diseases / Q000235:genetics