A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report |
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Authors: | David Cassiman Renate Zeevaert Elisabeth Holme Eli-Anne Kvittingen Jaak Jaeken |
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Affiliation: | 1. South Devon NHS Trust, Torbay Hospital, Newton Rd, Torquay, TQ2 7AA, UK 2. Royal Devon and Exeter Foundation Trust, Royal Devon & Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK
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Abstract: | Background A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients. Methods Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac magnetic resonance imaging protocol to assess cardiac structure and function in Alström cardiomyopathy. Results All patients had some degree of left and right ventricular dysfunction. Patchy mid wall gadolinium delayed enhancement was demonstrated, suggesting an underlying fibrotic process. Some degree of cardiomyopathy was universal. No evidence of myocardial infarction or fatty infiltration was demonstrated, but coronary artery disease cannot be completely excluded. Repeat scanning after 18 months in one subject showed progression of fibrosis and decreased left ventricular function. Conclusion Adult Alström cardiomyopathy appears to be a fibrotic process causing impairment of both ventricles. Serial cardiac magnetic resonance scanning has helped clarify the underlying disease progression and responses to treatment. Confirmation of significant mutations in the ALMS1 gene should lead to advice to screen the subject for cardiomyopathy, and metabolic disorders. |
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