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Keywords = Alström syndrome

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36 pages, 10348 KiB  
Review
The Role of Visual Electrophysiology in Systemic Hereditary Syndromes
by Minzhong Yu, Emile R. Vieta-Ferrer, Anas Bakdalieh and Travis Tsai
Int. J. Mol. Sci. 2025, 26(3), 957; https://doi.org/10.3390/ijms26030957 - 23 Jan 2025
Cited by 1 | Viewed by 1912
Abstract
Visual electrophysiology is a valuable tool for evaluating the visual system in various systemic syndromes. This review highlights its clinical application in a selection of syndromes associated with hearing loss, mitochondrial dysfunction, obesity, and other multisystem disorders. Techniques such as full-field electroretinography (ffERG), [...] Read more.
Visual electrophysiology is a valuable tool for evaluating the visual system in various systemic syndromes. This review highlights its clinical application in a selection of syndromes associated with hearing loss, mitochondrial dysfunction, obesity, and other multisystem disorders. Techniques such as full-field electroretinography (ffERG), multifocal electroretinography (mfERG), pattern electroretinography (PERG), visual evoked potentials (VEP), and electrooculography (EOG) offer insights into retinal and optic nerve function, often detecting abnormalities before clinical symptoms manifest. In hearing loss syndromes like Refsum disease, Usher syndrome (USH), and Wolfram syndrome (WS), electrophysiology facilitates the detection of early retinal changes that precede the onset of visual symptoms. For mitochondrial disorders such as maternally-inherited diabetes and deafness (MIDD), Kearns–Sayre syndrome (KSS), and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome, these tests can be useful in characterizing retinal degeneration and optic neuropathy. In obesity syndromes, including Bardet-Biedl syndrome (BBS), Alström syndrome, and Cohen syndrome, progressive retinal degeneration is a hallmark feature. Electrophysiological techniques aid in pinpointing retinal dysfunction and tracking disease progression. Other syndromes, such as Alagille syndrome (AGS), abetalipoproteinemia (ABL), Cockayne syndrome (CS), Joubert syndrome (JS), mucopolysaccharidosis (MPS), Neuronal ceroid lipofuscinoses (NCLs), and Senior–Løken syndrome (SLS), exhibit significant ocular involvement that can be evaluated using these methods. This review underscores the role of visual electrophysiology in diagnosing and monitoring visual system abnormalities across a range of syndromes, potentially offering valuable insights for early diagnosis, monitoring of progression, and management. Full article
(This article belongs to the Special Issue Advances in Retinal Diseases: 2nd Edition)
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24 pages, 377 KiB  
Review
Syndromic Retinitis Pigmentosa: A Narrative Review
by Márta Janáky and Gábor Braunitzer
Vision 2025, 9(1), 7; https://doi.org/10.3390/vision9010007 - 20 Jan 2025
Cited by 1 | Viewed by 3455
Abstract
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights [...] Read more.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet–Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms. These insights support clinicians in recognizing syndromic RP early. Ocular signs like nystagmus and congenital cataracts may indicate systemic disease, prompting genetic testing. Conversely, systemic symptoms may necessitate eye exams, even if vision symptoms are absent. Understanding the systemic aspects of these syndromes emphasizes the need for multidisciplinary collaboration among ophthalmologists, pediatricians, and other specialists to optimize patient care. The review also addresses emerging genetic therapies aimed at both visual and systemic symptoms, though more extensive studies are required to confirm their effectiveness. Overall, by detailing the genetic and clinical profiles of syndromic RP, this review seeks to aid healthcare professionals in diagnosing and managing these complex conditions more effectively, enhancing patient outcomes through timely, specialized intervention. Full article
(This article belongs to the Section Retinal Function and Disease)
16 pages, 4231 KiB  
Article
Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand
by Joonbum Seo, Yvonne Loh, David J. Connolly, Virginia Luis Fuentes, Emily Dutton, Hayley Hunt and John S. Munday
Animals 2024, 14(18), 2629; https://doi.org/10.3390/ani14182629 - 10 Sep 2024
Cited by 1 | Viewed by 5453
Abstract
Recently, hypertrophic cardiomyopathy (HCM) in Sphynx cats has been associated with a variant in the gene encoding Alström syndrome protein 1 (ALMS1). The primary aims of this study were to describe the prevalence of HCM in Sphynx cats in New Zealand, and to [...] Read more.
Recently, hypertrophic cardiomyopathy (HCM) in Sphynx cats has been associated with a variant in the gene encoding Alström syndrome protein 1 (ALMS1). The primary aims of this study were to describe the prevalence of HCM in Sphynx cats in New Zealand, and to assess the association between HCM and the ALMS1 variant in this population. In this prospective study, 55 apparently healthy Sphynx cats from registered Sphynx breeders and pet owners in New Zealand were screened by a cardiologist. A total of 42 of these cats had a repeat cardiac examination after median 1.8 years (range: 1.6–2.2). The frequency of the ALMS1 variant was 70.9% (11 homozygous and 28 heterozygous). At the median age of 5.8 years (range: 2.4–13.1), the prevalence of HCM was 40% (20 out of 55 cats). Three cats with HCM died during the study with congestive heart failure. All three cats had focal but extensive myocardial ischemia or infarction at necropsy. The ALMS1 variant was not associated with the HCM diagnosis. In summary, HCM was common in the studied cohort, suggesting Sphynx cats are predisposed to this disease. While the ALMS1 variant was also frequently detected, it was not associated with HCM in this population. Full article
(This article belongs to the Section Companion Animals)
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20 pages, 1047 KiB  
Review
Obesity-Related Ciliopathies: Focus on Advances of Biomarkers
by Qianwen Zhang, Yiguo Huang, Shiyang Gao, Yu Ding, Hao Zhang, Guoying Chang and Xiumin Wang
Int. J. Mol. Sci. 2024, 25(15), 8484; https://doi.org/10.3390/ijms25158484 - 3 Aug 2024
Viewed by 1795
Abstract
Obesity-related ciliopathies, as a group of ciliopathies including Alström Syndrome and Bardet–Biedl Syndrome, exhibit distinct genetic and phenotypic variability. The understanding of these diseases is highly significant for understanding the functions of primary cilia in the human body, particularly regarding the relationship between [...] Read more.
Obesity-related ciliopathies, as a group of ciliopathies including Alström Syndrome and Bardet–Biedl Syndrome, exhibit distinct genetic and phenotypic variability. The understanding of these diseases is highly significant for understanding the functions of primary cilia in the human body, particularly regarding the relationship between obesity and primary cilia. The diagnosis of these diseases primarily relies on clinical presentation and genetic testing. However, there is a significant lack of research on biomarkers to elucidate the variability in clinical manifestations, disease progression, prognosis, and treatment responses. Through an extensive literature review, the paper focuses on obesity-related ciliopathies, reviewing the advancements in the field and highlighting the potential roles of biomarkers in the clinical presentation, diagnosis, and prognosis of these diseases. Full article
(This article belongs to the Special Issue Advances in Rare Diseases Biomarkers)
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11 pages, 503 KiB  
Article
Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet–Biedl Syndromes
by Arleta Waszczykowska, Krzysztof Jeziorny, Dobromiła Barańska, Katarzyna Matera, Aleksandra Pyziak-Skupien, Michał Ciborowski and Agnieszka Zmysłowska
Genes 2023, 14(9), 1784; https://doi.org/10.3390/genes14091784 - 10 Sep 2023
Viewed by 1463
Abstract
Bardet–Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare multisystem diseases with an autosomal recessive mode of inheritance and genetic heterogeneity, characterized by visual impairment, hearing impairment, cardiomyopathy, childhood obesity, and insulin resistance. The purpose of our study was to evaluate the indicators [...] Read more.
Bardet–Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare multisystem diseases with an autosomal recessive mode of inheritance and genetic heterogeneity, characterized by visual impairment, hearing impairment, cardiomyopathy, childhood obesity, and insulin resistance. The purpose of our study was to evaluate the indicators of nervous system changes occurring in patients with ALMS and BBS using optical coherence tomography (OCT) and magnetic resonance spectroscopy (MRS) methods compared to a group of healthy subjects. The OCT results showed significantly lower macular thickness in the patient group compared to the control group (p = 0.002). The MRS study observed differences in metabolite levels between the study and control groups in brain areas such as the cerebellum, thalamus, and white matter. After summing the concentrations from all areas, statistically significant results were obtained for N-acetylaspartate, total N-acetylaspartate, and total creatine. Concentrations of these metabolites were reduced in ALMS/BBS patients by 38% (p = 0.0004), 35% (p = 0.0008), and 28% (p = 0.0005), respectively. Our results may help to understand the pathophysiology of these rare diseases and identify strategies for new therapies. Full article
(This article belongs to the Special Issue Genetics in Retinal Diseases)
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16 pages, 7652 KiB  
Article
Proteomic and Transcriptomic Landscapes of Alström and Bardet–Biedl Syndromes
by Urszula Smyczynska, Marcin Stanczak, Miljan Kuljanin, Aneta Włodarczyk, Ewelina Stoczynska-Fidelus, Joanna Taha, Bartłomiej Pawlik, Maciej Borowiec, Joseph D. Mancias, Wojciech Mlynarski, Piotr Rieske, Wojciech Fendler and Agnieszka Zmysłowska
Genes 2022, 13(12), 2370; https://doi.org/10.3390/genes13122370 - 15 Dec 2022
Cited by 7 | Viewed by 2667
Abstract
Alström syndrome (ALMS) and Bardet–Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and retinal degeneration. ALMS and BBS belong to the ciliopathies, which are known to have the expression products of genes, encoding [...] Read more.
Alström syndrome (ALMS) and Bardet–Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and retinal degeneration. ALMS and BBS belong to the ciliopathies, which are known to have the expression products of genes, encoding them as cilia-localized proteins in multiple target organs. The aim of this study was to perform transcriptomic and proteomic analysis on cellular models of ALMS and BBS syndromes to identify common and distinct pathological mechanisms present in both syndromes. For this purpose, epithelial cells were isolated from the urine of patients and healthy subjects, which were then cultured and reprogrammed into induced pluripotent stem (iPS) cells. The pathways of genes associated with the metabolism of lipids and glycosaminoglycan and the transport of small molecules were found to be concomitantly downregulated in both diseases, while transcripts related to signal transduction, the immune system, cell cycle control and DNA replication and repair were upregulated. Furthermore, protein pathways associated with autophagy, apoptosis, cilium assembly and Gli1 protein were upregulated in both ciliopathies. These results provide new insights into the common and divergent pathogenic pathways between two similar genetic syndromes, particularly in relation to primary cilium function and abnormalities in cell differentiation. Full article
(This article belongs to the Special Issue Molecular Basis of Rare Diseases)
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51 pages, 20239 KiB  
Review
Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology
by Kao-Jung Chang, Hsin-Yu Wu, Aliaksandr A. Yarmishyn, Cheng-Yi Li, Yu-Jer Hsiao, Yi-Chun Chi, Tzu-Chen Lo, He-Jhen Dai, Yi-Chiang Yang, Ding-Hao Liu, De-Kuang Hwang, Shih-Jen Chen, Chih-Chien Hsu and Chung-Lan Kao
Int. J. Mol. Sci. 2022, 23(17), 9707; https://doi.org/10.3390/ijms23179707 - 26 Aug 2022
Cited by 5 | Viewed by 6318
Abstract
Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization [...] Read more.
Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization of CVI disease cohorts has been fragmented and lacks integration. By revisiting the genome-wide and phenome-wide association studies (GWAS and PheWAS), we clustered a handful of renowned CVIs into five ontology groups, namely ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, Alstrom syndrome), demyelination diseases (multiple sclerosis, Alexander disease, Pelizaeus–Merzbacher disease), transcriptional deregulation diseases (Mowat–Wilson disease, Pitt–Hopkins disease, Rett syndrome, Cockayne syndrome, X-linked alpha-thalassaemia mental retardation), compromised peroxisome disorders (Zellweger spectrum disorder, Refsum disease), and channelopathies (neuromyelitis optica spectrum disorder), and reviewed several mutation hotspots currently found to be associated with the CVIs. Moreover, we discussed the common manifestations in the brain and the eye, and collated animal study findings to discuss plausible gene editing strategies for future CVI correction. Full article
(This article belongs to the Special Issue Genomics of Brain Disorders 4.0)
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33 pages, 7245 KiB  
Review
Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?
by Valentina Lodato, Giovanni Parlapiano, Federica Calì, Massimo Stefano Silvetti, Rachele Adorisio, Michela Armando, May El Hachem, Antonino Romanzo, Carlo Dionisi-Vici, Maria Cristina Digilio, Antonio Novelli, Fabrizio Drago, Massimiliano Raponi and Anwar Baban
J. Cardiovasc. Dev. Dis. 2022, 9(2), 47; https://doi.org/10.3390/jcdd9020047 - 31 Jan 2022
Cited by 13 | Viewed by 5552
Abstract
Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous. These two factors play a major role in the difficulties of establishing standard diagnostic and [...] Read more.
Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous. These two factors play a major role in the difficulties of establishing standard diagnostic and therapeutic protocols. Isolated CMP in children is a frequent finding, mainly caused by sarcomeric gene variants with a detection rate that can reach up to 50% of analyzed cohorts. Complex multisystemic forms of pediatric CMP are even more heterogenous. Few studies in literature take into consideration this topic as the main core since it represents a rarity (systemic CMP) within a rarity (pediatric population CMP). Identifying etiology in this cohort is essential for understanding prognosis, risk stratification, eligibility to heart transplantation and/or mechanical-assisted procedures, preventing multiorgan complications, and relatives’ recurrence risk calculation. The previous points represent a cornerstone in patients’ empowerment and personalized medical care approach. The aim of this work is to propose a new approach for an algorithm in the setting of the diagnostic framework of systemic pediatric CMP. On the other hand, during the literature review, we noticed a relatively common etiologic pattern in some forms of complex/multisystem CMP. In other words, certain syndromes such as Danon, Vici, Alström, Barth, and Myhre syndrome share a common pathway of directly or indirectly defective “autophagy” process, which appears to be a possible initiating/triggering factor for CMPs. This conjoint aspect could be important for possible prognostic/therapeutic implications in this category of patients. However, multicentric studies detailed functional and experimental models are needed prior to deriving conclusions. Full article
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14 pages, 1644 KiB  
Article
Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome
by Silvia Bettini, Giancarlo Bombonato, Francesca Dassie, Francesca Favaretto, Luca Piffer, Paola Bizzotto, Luca Busetto, Liliana Chemello, Marco Senzolo, Carlo Merkel, Paolo Angeli, Roberto Vettor, Gabriella Milan and Pietro Maffei
Diagnostics 2021, 11(5), 797; https://doi.org/10.3390/diagnostics11050797 - 28 Apr 2021
Cited by 13 | Viewed by 4197
Abstract
Alström syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disease (NAFLD). We evaluated liver fibrosis quantifying liver stiffness (LS) by shear [...] Read more.
Alström syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disease (NAFLD). We evaluated liver fibrosis quantifying liver stiffness (LS) by shear wave elastography (SWE) and steatosis using ultrasound sonographic (US) liver/kidney ratios (L/K) in 18 patients with ALMS and 25 controls, and analyzed the contribution of metabolic and genetic alterations in NAFLD progression. We also genetically characterized patients. LS and L/K values were significantly higher in patients compared with in controls (p < 0.001 versus p = 0.013). In patients, LS correlated with the Fibrosis-4 Index and age, while L/K was associated with triglyceride levels. LS showed an increasing trend in patients with metabolic comorbidities and displayed a significant correlation with waist circumference, the homeostasis model assessment, and glycated hemoglobin A1c. SWE and US represent promising tools to accurately evaluate early liver fibrosis and steatosis in adults and children with ALMS during follow-up. We described a new pathogenic variant of exon 8 in ALMS1. Patients with ALMS displayed enhanced steatosis, an early increased age-dependent LS that is associated with obesity and T2DM but also linked to genetic alterations, suggesting that ALMS1 could be involved in liver fibrogenesis. Full article
(This article belongs to the Section Pathology and Molecular Diagnostics)
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10 pages, 1829 KiB  
Article
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
by Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso and Diana Valverde
Genes 2021, 12(2), 282; https://doi.org/10.3390/genes12020282 - 16 Feb 2021
Cited by 6 | Viewed by 4704
Abstract
Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. [...] Read more.
Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated cardiomyopathy (DCM), neurodegenerative disorders and multiorgan fibrosis. We refined the clinical and genetic diagnosis data of 12 patients from 11 families, all of them from Spain. We also studied the allelic frequency of the different variants present in this cohort and performed a haplotype analysis for the most prevalent allele. The genetic analysis revealed 2 novel homozygous variants located in the exon 8, p.(Glu929Ter) and p.(His1808GlufsTer20) in 2 unrelated patients. These 2 novel variants were classified as pathogenic after an in silico experiment (computer analysis). On the other hand, 2 alleles were detected at a high frequency in our cohort: p.(Tyr1714Ter) (25%) and p.(Ser3872TyrfsTer19) (16.7%). The segregation analysis showed that the pathogenic variant p.(Tyr1714Ter) in 3 families is linked to a rare missense polymorphism, p.(Asn1787Asp). In conclusion, 2 novel pathological mutations have been discovered in homozygosis, as well as a probable founder effect in 3 unrelated families. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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27 pages, 1685 KiB  
Review
Ciliary Genes in Renal Cystic Diseases
by Anna Adamiok-Ostrowska and Agnieszka Piekiełko-Witkowska
Cells 2020, 9(4), 907; https://doi.org/10.3390/cells9040907 - 8 Apr 2020
Cited by 30 | Viewed by 10358
Abstract
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal transduction. The impaired functioning of primary cilia leads to [...] Read more.
Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal transduction. The impaired functioning of primary cilia leads to formation of cysts which in turn contribute to development of diverse renal diseases, including kidney ciliopathies and renal cancer. Here, we review current knowledge on the role of ciliary genes in kidney ciliopathies and renal cell carcinoma (RCC). Special focus is given on the impact of mutations and altered expression of ciliary genes (e.g., encoding polycystins, nephrocystins, Bardet-Biedl syndrome (BBS) proteins, ALS1, Oral-facial-digital syndrome 1 (OFD1) and others) in polycystic kidney disease and nephronophthisis, as well as rare genetic disorders, including syndromes of Joubert, Meckel-Gruber, Bardet-Biedl, Senior-Loken, Alström, Orofaciodigital syndrome type I and cranioectodermal dysplasia. We also show that RCC and classic kidney ciliopathies share commonly disturbed genes affecting cilia function, including VHL (von Hippel-Lindau tumor suppressor), PKD1 (polycystin 1, transient receptor potential channel interacting) and PKD2 (polycystin 2, transient receptor potential cation channel). Finally, we discuss the significance of ciliary genes as diagnostic and prognostic markers, as well as therapeutic targets in ciliopathies and cancer. Full article
(This article belongs to the Special Issue Epithelial Cell Mechanics: From Physiology to Pathology)
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5 pages, 514 KiB  
Brief Report
Cardiac Electrical System Involvement in Alström Syndrome: Uncommon Causes of Dilated Cardiomyopathies
by Richard J. Czosek, Paula Goldenberg, Erin M. Miller, Robert Spicer, Jeffrey A. Towbin and Stephanie M. Ware
Cardiogenetics 2012, 2(1), e2; https://doi.org/10.4081/cardiogenetics.2012.e2 - 20 Jan 2012
Cited by 1 | Viewed by 2
Abstract
Alström syndrome is a rare autosomal recessive disorder with dilated cardiomyopathy in 60% of patients. Despite the frequency of cardiac involvement in Alström syndrome, conduction system abnormalities or arrhythmias have not been characterized previously. We report two siblings with Alström syndrome with conduction [...] Read more.
Alström syndrome is a rare autosomal recessive disorder with dilated cardiomyopathy in 60% of patients. Despite the frequency of cardiac involvement in Alström syndrome, conduction system abnormalities or arrhythmias have not been characterized previously. We report two siblings with Alström syndrome with conduction system involvement with left bundle branch block on electrocardiogram (ECG). One patient had first degree atrioventricular block in addition to bundle branch block and underwent pacemaker implantation. This same patient developed intra-atrial reentry tachycardia requiring anti-arrhythmic medication and eventual trans-catheter ablation. The second patient developed atrial and ventricular arrhythmias and underwent placement of a bi-ventricular defibrillator. These findings suggest that cardiac conduction system involvement and clinical arrhythmia may be significant yet under-recognized complications in patients with Alström syndrome. Patients should be routinely screened with ECG and Holter monitoring in addition to echocardiographic assessment and a cardiologist experienced with cardiomyopathy should be an integral part of the care team. Full article
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