Dilated cardiomyopathy with ataxia syndrome

Dilated cardiomyopathy with ataxia syndrome is a multi-systemic hereditary disorder that is characterized by heart abnormalities and problems with coordination, movement and balance.[1][2]

Dilated cardiomyopathy
SpecialtyMedical genetics, Pediatry, Cardiology
Symptomsheart and movement problems
Durationlife-long
CausesGenetic mutation
Preventionnone
Frequencyrare

Presentation

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Most people with DCMA begin developing dilated cardiomyopathy (weakening and enlargement of the heart) during their infancy into early childhood, at age 2, they start developing ataxia (difficulties with their coordination, balance, and movement), this causes a delay in the development of motor skills like walking

Some people with this disorder grow slowly pre- and post-natally, this results in short stature, they also might have heart problems like long QT syndrome, this condition causes arrhythmia, and this causes syncope (fainting), and cardiac arrests that might end with the affected person's life, most people with these symptoms die before their adolescence.

Other less common symptoms include intellectual disability, abnormal development of the genitals (in men), anemia, hepatic steatosis, and optic nerve atrophy.[3][4]

Causes

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This syndrome is caused by autosomal recessive mutations in the DNAJC19 gene, in chromosome 3q26.33[5]

Epidemiology

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This disorder is very rare, with only between 45-50 recorded in medical literature, something interesting to note is that, although reported across the world, most of these cases come from the Hutterite people, in Southern Alberta, Canada[5][6][7]

References

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  1. ^ "Orphanet: Dilated cardiomyopathy with ataxia". Orphanet. 2024-05-28. Archived from the original on 2024-05-30. Retrieved 2024-06-29.
  2. ^ "Cardiomiopatía dilatada con ataxia, Síndrome de ..., (Dilated cardiomyopathy with ataxia syndrome) – Gen DNAJC19". IVAMI. Archived from the original on 2023-05-30. Retrieved 2024-06-29.
  3. ^ "Dilated cardiomyopathy with ataxia syndrome: MedlinePlus Genetics". MedlinePlus. 2014-07-01. Archived from the original on 2024-06-03. Retrieved 2024-06-29.
  4. ^ "Dilated cardiomyopathy with ataxia". Genetic and Rare Diseases Information Center. Retrieved 2024-06-29.
  5. ^ a b Machiraju, Pranav; Degtiarev, Vlad; Patel, Dhwani; Hazari, Hassan; Lowry, R. Brian; Bedard, Tanya; Sinasac, David; Brundler, Marie‐Anne; Greenway, Steven C.; Khan, Aneal (March 2022). "Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children". Journal of Inherited Metabolic Disease. 45 (2): 366–376. doi:10.1002/jimd.12441. PMID 34580891. S2CID 238203765.
  6. ^ Greenway, Steven C.; Dallaire, Frederic; Hazari, Hassan; Patel, Dhwani; Khan, Aneal (1 August 2018). "Addition of Digoxin Improves Cardiac Function in Children With the Dilated Cardiomyopathy With Ataxia Syndrome: A Mitochondrial Cardiomyopathy". Canadian Journal of Cardiology. 34 (8): 972–977. doi:10.1016/j.cjca.2018.02.019. PMID 29887217. S2CID 47011031.
  7. ^ Rohani, L.; Meng, G.; Machiraju, P.; Liu, S.; Wu, J.; Kovalchuk, I.; Lewis, I.; Shutt, T.; Khan, A.; Rancourt, D.; Greenway, S. (1 October 2017). "Modeling the dilated cardiomyopathy with ataxia syndrome (DCMA), a pediatric mitochondrial cardiomyopathy, using cardiomyocytes derived from induced pluripotent stem cells". Canadian Journal of Cardiology. 33 (10): S163–S164. doi:10.1016/j.cjca.2017.07.319.