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Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.
- Source :
-
Molecular genetics and metabolism [Mol Genet Metab] 2017 Aug; Vol. 121 (4), pp. 336-343. Date of Electronic Publication: 2017 May 30. - Publication Year :
- 2017
-
Abstract
- Background: Alström syndrome (AS) is a rare monogenetic disorder with multi-organ involvement. Complex metabolic disturbances are common and cardiomyopathy is a well-recognized feature in infants as well as in older children and adults. Although the mechanism of cardiomyopathy is not known, previous reports suggest that individuals with infantile-onset cardiac disease recover completely.<br />Methods: In this single center prospective series of 38 children and adults (age range 1.7 to 37.9years; 20 females) with AS, we evaluated cardiac manifestations in detail, in the context of specific ALMS1 mutations and multisystem involvement. All patients underwent ALMS1 sequencing, biochemical testing, electrocardiogram, and echocardiographic imaging with speckle tracking to evaluate systolic strain; 21 patients underwent cardiac magnetic resonance imaging with T1 mapping.<br />Results: Approximately half of patients (17/38) had a previous diagnosis of cardiomyopathy. Global longitudinal strain, a measure of systolic contractile function, was abnormal in 94% of patients and correlated with body mass index (r=0.602, p=0.002) and C-reactive protein level (r=0.56, p=0.004), but only in children. Electrocardiographic abnormalities were seen in two-thirds of patients, and left ventricular dilatation and/or dysfunction was present in 4 adults and 4 children.<br />Conclusion: AS patients with a history of resolved infantile cardiomyopathy continue to have residual impairment in cardiac function. For patients with a normal ejection fraction and no prior cardiac history, strain can be abnormal, suggesting subclinical cardiac involvement. Close cardiac screening and aggressive modification of other manifestations of AS that are risk factors for cardiac disease, including obesity, inflammation, diabetes and dyslipidemia, are essential in caring for patients with AS.<br /> (Published by Elsevier Inc.)
- Subjects :
- Adolescent
Adult
Alstrom Syndrome genetics
C-Reactive Protein analysis
Cardiomyopathies diagnostic imaging
Cardiomyopathies genetics
Cell Cycle Proteins
Child
Child, Preschool
Echocardiography
Female
High-Throughput Nucleotide Sequencing
Humans
Infant
Magnetic Resonance Imaging
Male
Prospective Studies
Proteins genetics
Risk Factors
Ventricular Dysfunction, Left
Young Adult
Alstrom Syndrome physiopathology
Cardiomyopathies physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1096-7206
- Volume :
- 121
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 28610912
- Full Text :
- https://doi.org/10.1016/j.ymgme.2017.05.017