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 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.
Highlights
We report two siblings with Alström syndrome whose phenotype included conduction system involvement and final version of the manuscript
Discussion patients with Alström syndrome compared to dysfunction diagnosed during infancy in other cardiomyopathy cohorts is needed to Alström syndrome was transient.[20]
In the pediatric age Previously it was thought that ventricular The presence of cardiomyopathy in adolescent group there are both genetic and environmental causes of dilated cardiomyopathy
Summary
ALMS1 testing was performed on this patient for her known familial mutations which confirmed a diagnosis of Alström syndrome Since her diagnosis she has developed progressive LV dysfunction, with a current SF of 19% and ejection fraction
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.