Doppler Tissue, Strain, and Strain Rate Imaging in Pediatric Patients with Alström Syndrome: Are There Regional Functional Abnormalities?

Toulany, Alène; Shea, Sarah; Warren, Andrew E.

doi:10.1016/j.echo.2005.07.008

Cited by 10 publications

(8 citation statements)

References 24 publications

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“…Our finding of subclinical strain abnormalities in nearly all patients in our cohort suggests the presence of myocardial disease in patients without overt cardiomyopathy, including but not limited to those who have recovered from infantile cardiomyopathy. Toulany et al reported subclinical systolic dysfunction in all five children and adolescents whom they studied with tissue Doppler and strain echocardiography [24]. Our finding of abnormal GLS of the left ventricle in 22 of 24 children and in 11 of 11 adults confirms their results in our larger cohort of patients.…”

Section: Discussionsupporting

confidence: 88%

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Brofferio

Sachdev

Hannoush

et al. 2017

Molecular Genetics and Metabolism

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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. Methods In this single center prospective series of 38 children and adults (age range 1.7 to 37.9 years; 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. 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. 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.

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Section: Discussionsupporting

confidence: 88%

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Brofferio

Sachdev

Hannoush

et al. 2017

Molecular Genetics and Metabolism

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“…The second form of cardiomyopathy in AS is chronic restrictive in nature and characterized by slowly progressive fibrosis of the myocardium [90,91]. Almost all AS patients develop some degree of this slow restrictive cardiomyopathy [87,92].…”

Section: Cardiomyopathy In Asmentioning

confidence: 99%

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Grochowsky

Gunay‐Aygun

2019

TRD

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Non-motile ciliopathies (disorders of the primary cilia) include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oralfacial-digital syndromes, and Jeune chondrodysplasia and other skeletal ciliopathies. Chronic progressive disease of the kidneys, liver, and retina are common features in non-motile ciliopathies. Some ciliopathies also manifest neurological, skeletal, olfactory and auditory defects. Obesity and type 2 diabetes mellitus are characteristic features of Bardet-Biedl and Alström syndromes. Overlapping clinical features and molecular heterogeneity of these ciliopathies render their diagnoses challenging. In this review, we describe the clinical characteristics of individual organ disease for each ciliopathy and provide natural history data on kidney, liver, retinal disease progression and central nervous system function.

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“…Another subset of individuals develop adult or adolescent onset CHF, which appears to be a fibrotic process causing myocardial hypertrophy and dilation with restrictive impairment of both ventricles [39, 42]. Significantly decreased systolic wall motion velocities and amplified aortic systolic pressure are indicative of central arterial stiffening that may contribute to the development of cardiomyopathy [43, 44]. Heart transplantation is problematic, with a poor success rate because multiple organs are compromised in this syndrome.…”

Section: Alström Syndrome Clinical Overviewmentioning

confidence: 99%

Alstrom Syndrome: Genetics and Clinical Overview

Marshall

Maffei²,

Collin³

et al. 2011

230

298

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Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and progressive development of multi-organ pathology leads to a reduced life expectancy. Variability in age of onset and severity of clinical symptoms, even within families, is likely due to genetic background.Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4,169 amino acids. In general, ALMS1 gene defects include insertions, deletions, and nonsense mutations leading to protein truncations and found primarily in exons 8, 10 and 16. Multiple alternate splice forms exist. ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease. The identification of ALMS1 as a ciliary protein explains the range of observed phenotypes and their similarity to those of other ciliopathies such as Bardet-Biedl syndrome.Studies involving murine and cellular models of Alström syndrome have provided insight into the pathogenic mechanisms underlying obesity and type 2 diabetes, and other clinical problems. Ultimately, research into the pathogenesis of Alström syndrome should lead to better management and treatments for individuals, and have potentially important ramifications for other rare ciliopathies, as well as more common causes of obesity and diabetes, and other conditions common in the general population.

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Doppler Tissue, Strain, and Strain Rate Imaging in Pediatric Patients with Alström Syndrome: Are There Regional Functional Abnormalities?

Cited by 10 publications

References 24 publications

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Alstrom Syndrome: Genetics and Clinical Overview

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