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Published on: February 20, 2019
Defining the cardiovascular phenotype of adults with Alström syndrome
Ashwin Roy1, Leena Patel2, Mengshi Yuan3
1Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.
Insights
Cardiomyopathy is prevalent in Alström Syndrome (AS) adults, often developing later in life. Cardiovascular issues in AS patients are frequently compounded by kidney and liver disease as they age.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Alström Syndrome (AS) frequently causes infantile cardiomyopathy, with survivors often developing later-onset cardiomyopathy.
- Significant clinical variability in cardiovascular presentation is observed in AS patients, even within families.
Purpose of the Study:
- To comprehensively evaluate the cardiovascular phenotype in adult patients with Alström Syndrome.
Main Methods:
- 47 adult Alström Syndrome patients underwent biochemical tests, ECG, echocardiography, and cardiovascular magnetic resonance imaging (CMR).
- Invasive testing was performed for selected patients, including coronary artery imaging.
Main Results:
- 49% of adult AS patients developed adult-onset cardiomyopathy.
- Abnormalities were common across biomarkers (34%), ECG (64%), echocardiography (40%), and CMR (66%).
- Older patients showed more impaired cardiac, renal, and liver markers, including reduced ejection fraction and signs of restrictive cardiomyopathy.
Conclusions:
- Cardiomyopathy is a common complication in adult Alström Syndrome, often associated with atherosclerotic coronary artery disease and restrictive cardiomyopathy.
- Advancing age exacerbates cardiovascular complications in AS, frequently alongside renal and liver disease.
Background:
>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.
Methods:
Adults attending the National Centre for AS in England were studied. All patients underwent biochemical, 12- lead electrocardiography, echocardiography, and cardiovascular magnetic resonance imaging.
Results:
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.
Conclusion:
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.
