Observational studyOrphanet journal of rare diseases2015
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.
Observational study in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 3 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 3 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Consensus clinical management guidelines for Alström syndrome.Orphanet journal of rare diseases · 2020Pooled it
- Pooled summary of native T1 value and extracellular volume with MOLLI variant sequences in normal subjects and patients with cardiovascular disease.The international journal of cardiovascular imaging · 2020Pooled it
- Point estimate and reference normality interval of MRI-derived myocardial extracellular volume in healthy subjects: a systematic review and meta-analysis.European radiology · 2019Pooled it
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024Review
- Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy.Disease models & mechanisms · 2024Article
- Alström syndrome-wide clinical variability within the same variant: a case report and literature review.Frontiers in pediatrics · 2024Article
- Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.Orphanet journal of rare diseases · 2022Review
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.Internal medicine (Tokyo, Japan) · 2021Article
- A very early diagnosis of Alstrӧm syndrome by next generation sequencing.BMC medical genetics · 2020Article
- Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis.Orphanet journal of rare diseases · 2020Article
- Cardiovascular Implications in Idiopathic and Syndromic Obesity in Childhood: An Update.Frontiers in endocrinology · 2020Review
- Early effects of kidney transplantation on the heart - A cardiac magnetic resonance multi-parametric study.International journal of cardiology · 2019Article
- Clinical characteristics of individual organ system disease in non-motile ciliopathies.Translational science of rare diseases · 2019Article
- Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.BMC endocrine disorders · 2018Article
- Article
- Prolonged QTc indicates the clinical severity and poor prognosis in patients with isolated left ventricular non-compaction.The international journal of cardiovascular imaging · 2017Article
- Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.Molecular genetics and metabolism · 2017Article
- High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease.Orphanet journal of rare diseases · 2015Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAlström syndrome is a rare inherited ciliopathy with progressive multisystem involvement. Dilated cardiomyopathy is common in infancy and recurs or presents de novo in adults with high rates of premature cardiovascular death. Although Alström syndrome is characterised by fibrosis in solid organs such as the liver, the pathogenesis of related cardiomyopathy are not clear. To date it is not known whether diffuse interstitial myocardial fibrosis is present before the onset of heart failure symptoms or changes in conventional parameters of left ventricular function.
methodsIn this observational study, 26 patients with Alström syndrome (mean age 27 ± 9 years, 65 % male, 24 h ABPM 130 ± 14 / 77 ± 9 mmHg) without symptomatic cardiovascular disease were recruited from a single centre and compared to matched healthy controls. All subjects underwent cardiac MRI (1.5 T) to assess ventricular function, diffuse interstitial myocardial fibrosis by measurement of extracellular volume on T1-mapping (MOLLI) and coarse replacement fibrosis using standard late gadolinium enhancement imaging.
resultsGlobal extracellular volume was increased in Alström syndrome with wider variation compared to controls (0.30 ± 0.05 vs. 0.25 ± 0.01, p < 0.05). Left ventricular long axis function and global longitudinal strain were impaired in Alström syndrome without change in ejection fraction, ventricular size or atrial stress (NT-proBNP) (p < 0.05). Global extracellular volume was associated with reduced peak systolic longitudinal strain (r = -0.73, p < 0.01) and strain rate (r = -0.57, p < 0.01), increased QTc interval (r = 0.49, p < 0.05) and serum triglycerides (r = 0.66, p < 0.01). Nine (35 %) patients had diffuse mid-wall late gadolinium enhancement in a non-coronary artery distribution.
conclusionDiffuse interstitial myocardial fibrosis is common in Alström syndrome and is associated with impaired left ventricular systolic function. Serial studies are required to determine whether global extracellular volume may be an independent imaging biomarker of vulnerability to dilated cardiomyopathy and heart failure.
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