Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathy

Michaud, Jacques L.; Hèon, Elise; Guilbert, F; Weill, Jacques; Puech, Bernard; Benson, Lee; Smallhorn, Jeffrey F.; Shuman, Cheryl; Buncic, J. Raymond; Levin, Alex V.; Weksberg, Rosanna; Breviere, G. M.

doi:10.1016/s0022-3476(96)70394-3

Cited by 100 publications

(84 citation statements)

References 28 publications

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“…Approximately 450 cases have been identified. (7,8). The distribution of AS is global without any gender predilection.…”

Section: Discussionmentioning

confidence: 99%

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ALSTROM Syndrome (Cases presentation and review of literature)

Al-Kaabi¹

2017

IJPN

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“…Approximately 450 cases have been identified. (7,8). The distribution of AS is global without any gender predilection.…”

Section: Discussionmentioning

confidence: 99%

“…With an estimated prevalence of < 1:100 000, only ~500 cases of AS have been reported in the literature thus far. (3,11,13,(17)(18)(19)(20) Since the condition was first described in 1959, (7)(8). The diagnosis of Alström syndrome is based on cardinal clinical features that emerge throughout infancy, childhood, and young adulthood.…”

Section: Discussionmentioning

confidence: 99%

ALSTROM Syndrome (Cases presentation and review of literature)

Al-Kaabi¹

2017

IJPN

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“…Also, both syndromes are caused by different mutations at the same gene locus. So, localization and identification of the gene responsible for AS is very valuable because this not only would confirm the diagnosis but also would shed light on the causes of the isolated forms of cardiomyopathy, retinal dystrophy, diabetes, and deafness [8].…”

Section: Discussionmentioning

confidence: 99%

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

et al. 2015

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Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age.

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“…20 More recent reports have shown that in up to 30% of patients normalization of ventricular function is merely a quiescent period, with cardiomyopathy recurring in adolescence or adulthood. 6 The presence of cardiomyopathy in adolescent Brief Report and adult patients with Alström syndrome is associated with a poor prognosis and significant mortality.…”

Section: Discussionmentioning

confidence: 99%

Cardiac Electrical System Involvement in Alström Syndrome: Uncommon Causes of Dilated Cardiomyopathies

et al. 2012

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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.

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Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathy

Cited by 100 publications

References 28 publications

ALSTROM Syndrome (Cases presentation and review of literature)

ALSTROM Syndrome (Cases presentation and review of literature)

Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness

Cardiac Electrical System Involvement in Alström Syndrome: Uncommon Causes of Dilated Cardiomyopathies

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