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A marked decrease in heart rate variability in Marfan syndrome patients with confirmed FBN1 mutations
Andriy Cherkas1, Rustam Zhuraev
1Department of Medicine, Lviv College of Physical Culture, Lviv, Ukraine. cherkasandriy@yahoo.com.
Background:
The studies on heart rate variability (HRV), a key predictor of all-cause mortality, in Marfan syndrome (MS), up to now have not been reported, especially in patients with FBN1 mutations.
Methods:
Among 18 MS patients with the phenotype of MS meeting inclusion criteria 15 have had a FBN1 gene mutation. Short electrocardiography records were taken in the supine position and during orthostatic tests. The control group consisted of 30 apparently healthy nonathletes matched by age and gender.
Results:
Heart rates in MS patients with the FBN1 mutation were increased in both the supine position and orthostatic test (p < 0.001). Most of the time-domain (standard deviation, pNN50) and frequency-domain (total power, very low, low, and high frequency) parameters of HRV were significantly reduced in the MS patients (p < 0.001).
Conclusions:
A marked decrease in HRV, documented in the study, may be an important clinical feature in MS patients with confirmed FBN1 gene mutations.
Insights
Heart rate variability (HRV) is significantly reduced in Marfan syndrome (MS) patients with FBN1 mutations. This finding suggests decreased HRV may be a key clinical indicator in these individuals.
Area of Science:
- Cardiology
- Genetics
- Autonomic Nervous System Function
Background:
- Marfan syndrome (MS) is a genetic disorder affecting connective tissue.
- Heart rate variability (HRV) is a crucial predictor of mortality.
- Previous research has not detailed HRV in MS patients, particularly those with FBN1 mutations.
Purpose of the Study:
- To investigate heart rate variability (HRV) in patients with Marfan syndrome (MS).
- To examine the association between FBN1 gene mutations and HRV in MS patients.
Main Methods:
- 18 MS patients with FBN1 mutations and 30 healthy controls underwent short electrocardiography.
- Recordings were taken in supine and orthostatic positions.
- Time-domain and frequency-domain HRV parameters were analyzed.
Main Results:
- MS patients with FBN1 mutations exhibited increased heart rates in both supine and orthostatic positions (p < 0.001).
- Significant reductions in most time-domain (e.g., standard deviation, pNN50) and frequency-domain (e.g., total power, LF, HF) HRV parameters were observed in MS patients (p < 0.001).
Conclusions:
- A notable decrease in HRV is documented in MS patients with FBN1 gene mutations.
- Reduced HRV may serve as a significant clinical marker for Marfan syndrome patients carrying FBN1 mutations.
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