Abstract
Background Alstrom syndrome (ALMS) is a rare autosomal recessive genetic disorder characterised by progressive endocrine disarray, sensorineural deficit, cardiac, renal, and hepatic abnormalities. Idiopathic infantile dilated cardiomyopathy (CMP) is common, presenting acutely in 45% of individuals and recurs or develops de novo in 65% of adolescents with high rates of morbidity and mortality. Myocardial fibrosis has been demonstrated at post-mortem and on MRI with patchy diffuse late gadolinium enhancement (LE) in an older cohort of ALMS patients. We hypothesise that subclinical diffuse fibrosis in young patients with ALMS precedes any change in conventional parameters of ventricular function or overt scarring on LE.
Highlights
Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder characterised by progressive endocrine disarray, sensorineural deficit, cardiac, renal, and hepatic abnormalities
Septal myocardial extracellular volume (ECV) was increased in female ALMS compared to male ALMS (0.27 +/- 0.02 vs. 0.31 +/0.02, p
Three male older ALMS patients all without a history of infantile CMP, had patchy diffuse late gadolinium enhancement (LE) in non-coronary artery territories with an increased ECV compared to remote “normal” myocardium (ECV 0.41 +/- 0.08 vs. 0.27 +/- 0.03, p
Summary
Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder characterised by progressive endocrine disarray, sensorineural deficit, cardiac, renal, and hepatic abnormalities. Idiopathic infantile dilated cardiomyopathy (CMP) is common, presenting acutely in 45% of individuals and recurs or develops de novo in 65% of adolescents with high rates of morbidity and mortality. Myocardial fibrosis has been demonstrated at post-mortem and on MRI with patchy diffuse late gadolinium enhancement (LE) in an older cohort of ALMS patients.
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