%0 Journal Article
%T Defining the cardiovascular phenotype of adults with Alström syndrome.
%A Roy A
%A Patel L
%A Yuan M
%A O'Shea C
%A Alvior AMB
%A Charalambides M
%A Moxon D
%A Baig S
%A Bunting KV
%A Gehmlich K
%A Geberhiwot T
%A Steeds RP
%J Int J Cardiol
%V 409
%N 0
%D 2024 Aug 15
%M 38806112
%F 4.039
%R 10.1016/j.ijcard.2024.132212
%X <B>BACKGROUND: </B>>40% of infants with Alström Syndrome (AS) present with a transient, severe cardiomyopathy in the first months of life, with apparent recovery in survivors. One in five individuals then develop a later-onset cardiomyopathy but wide clinical variability is observed, even within the same family. The rationale for this study is to provide a comprehensive evaluation of the cardiovascular phenotype in adults with AS.<BR><B>METHODS: </B>Adults attending the National Centre for AS in England were studied. All patients underwent biochemical, 12- lead electrocardiography, echocardiography, and cardiovascular magnetic resonance imaging.<BR><B>RESULTS: </B>47 adults with AS (64% male; mean age 33 years; 66% white British) were studied. Seven (15%) survived infantile cardiomyopathy and 23 (49%) developed adult-onset cardiomyopathy. Conventional risk factors for cardiovascular disease were present in 39 (83%). Abnormalities were present on biomarkers in 16 (34%), ECG 30 (64%), echocardiography 19 (40%) and CMR 31 (66%). Coronary artery imaging was performed in six (13%), with abnormalities in two. Cardiac, renal, and liver markers were more often impaired in older patients, with impaired left ventricular ejection fraction, reduced global longitudinal strain and late enhancement. 6 (13%) had severe pulmonary hypertension (mean pulmonary artery pressure 46 mmHg) due to left heart disease on invasive testing.<BR><B>CONCLUSIONS: </B>Cardiomyopathy is common in adults with AS, complicated in a significant proportion by atherosclerotic coronary artery disease and restrictive cardiomyopathy, confirmed on CMR and invasive testing. With advancing age, cardiovascular complications are compounded by contemporaneous renal and liver disease.