Defining the cardiovascular phenotype of adults with Alström syndrome

• Published in: International journal of cardiology Vol. 409; p. 132212
• Main Authors: Roy, Ashwin, Patel, Leena, Yuan, Mengshi, O'Shea, Christopher, Alvior, Amor Mia B., Charalambides, Maria, Moxon, Daniel, Baig, Shanat, Bunting, Karina V., Gehmlich, Katja, Geberhiwot, Tarekegn, Steeds, Richard P.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.08.2024
• Subjects: Alström syndrome; Cardiovascular; Cardiovascular; Alström syndrome
• ISSN: 0167-5273; 1874-1754; 1874-1754
• DOI: 10.1016/j.ijcard.2024.132212

>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. Adults attending the National Centre for AS in England were studied. All patients underwent biochemical, 12- lead electrocardiography, echocardiography, and cardiovascular magnetic resonance imaging. 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. 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. •Alstrom syndrome is characterised by cardiomyopathy with cardiovascular disease a major driver of mortality.•We demonstrate no residual cardiac disability after recovery from infantile cardiomyopathy.•Screening for cardiomyopathy should start early and include regular assessment of conventional risk factors.