Mortality in Friedreich ataxia
Amy Y Tsou1, Erin K Paulsen, Sarah J Lagedrost
1Department of Neurology, University of Pennsylvania Medical School, USA.
Insights
Cardiac dysfunction is the leading cause of death in Friedreich ataxia (FRDA), primarily from heart failure and arrhythmia. Deceased patients showed higher rates of dilated cardiomyopathy and longer genetic mutations compared to living controls.
Area of Science:
- Neurology
- Cardiology
- Genetics
Background:
- Cardiac dysfunction is the most common cause of mortality in Friedreich ataxia (FRDA).
- Previous studies on FRDA mortality predate current diagnostic criteria.
- This study addresses the need for updated mortality data in FRDA.
Purpose of the Study:
- To determine the causes of death in patients with Friedreich ataxia (FRDA).
- To compare characteristics of deceased FRDA patients with living controls.
- To identify risk factors and specific cardiac conditions associated with mortality in FRDA.
Main Methods:
- Retrospective study of FRDA patients to ascertain causes of death.
- Case-control analysis comparing deceased FRDA patients with age- and sex-matched living FRDA controls.
- Evaluation of clinical and genetic characteristics, including triplet repeat length and cardiac conditions.
Main Results:
- Cardiac dysfunction accounted for 59% of deaths in FRDA patients.
- Congestive heart failure and arrhythmia were the most frequent cardiac causes of death.
- Deceased patients had longer triplet repeat lengths and higher incidences of arrhythmia and dilated cardiomyopathy compared to controls.
Conclusions:
- Cardiac dysfunction remains the primary cause of mortality in Friedreich ataxia.
- Arrhythmia and dilated cardiomyopathy are significantly associated with increased mortality risk in FRDA.
- The role of hypertrophic cardiomyopathy in FRDA mortality requires further investigation.
Background:
Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria.
Methods:
We performed a retrospective study of FRDA patients to determine cause of death followed by a case-control analysis comparing characteristics of deceased patients with living, age- and sex-matched FRDA controls.
Results:
Causes of death were cardiac dysfunction (59%), probable cardiac dysfunction (3.3%), non-cardiac (27.9%) or unknown (9.8%). Compared to non-cardiac deaths, cardiac deaths occurred earlier in the disease course (median 29 vs. 17years respectively). Congestive heart failure and arrhythmia were common causes of cardiac-related death. Compared to living, matched FRDA controls, deceased patients had longer triplet repeat lengths and higher rates of arrhythmia and dilated cardiomyopathy. The presence of hypertrophic cardiomyopathy did not differ between deceased and living patients.
Conclusion:
Cardiac dysfunction was the most frequent cause of death (59%), most commonly from congestive heart failure or arrhythmia. Arrhythmia and dilated cardiomyopathy were significantly more common in deceased patients compared to matched FRDA controls, while in contrast, the presence of cardiac hypertrophy did not differ. More research is needed to establish the clinical significance of hypertrophy in FRDA.
More Related Videos
08:41Visualizing the DNA Damage Response in Purkinje Cells Using Cerebellar Organotypic Cultures
Published on: December 27, 2024
08:22A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Published on: September 16, 2019
Related Concept Videos
01:26Rocky Mountain Spotted Fever
01:21Huntington Disease l: Introduction
01:48ATP Synthase: Mechanism