{Reference Type}: Journal Article
{Title}: Defining the cardiovascular phenotype of adults with Alström syndrome.
{Author}: Roy A;Patel L;Yuan M;O'Shea C;Alvior AMB;Charalambides M;Moxon D;Baig S;Bunting KV;Gehmlich K;Geberhiwot T;Steeds RP;
{Journal}: Int J Cardiol
{Volume}: 409
{Issue}: 0
{Year}: 2024 Aug 15
{Factor}: 4.039
{DOI}: 10.1016/j.ijcard.2024.132212
{Abstract}: <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.