A marked decrease in heart rate variability in Marfan syndrome patients with confirmed FBN1 mutations

Abstract

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. (Cardiol J 2016; 23, 1: 23-33)

Afferent signaling impairment from baroreceptors cannot fully explain decrease in heart rate variability in Marfan syndrome patients: an author’s reply

“…Besides, we did not observe significant signs of baroreceptor feedback failure such as blood pressure instability, left ven tricle hypertrophy, or orthostatic hypotension in our patients [4]. The data obtained from the HRV records during orthostatic testing further confirms the absence of clinically significant orthostatic in tolerance in studied patients [1]. It is known that the major location of baroreceptors is the carotid bulb.…”

“…As it was mentioned in our study, we did not ob serve substantial differences in HRV parameters of MS patients with FBN1 mutations after surgery compared to those who did not undergo the Bentall surgery. Therefore, the separate analysis of HRV between subgroups with and without serious aortic damage was not performed [1]. Besides, we did not observe significant signs of baroreceptor feedback failure such as blood pressure instability, left ven tricle hypertrophy, or orthostatic hypotension in our patients [4].…”

“…We are grateful for the interest to our paper reporting low heart rate variability (HRV) in Marfan syndrome (MS) patients with FBN1 mutations [1]. The author of the letter [2] raised the question whether low HRV is related to FBN1 mutation or impaired baroreflex due to aorta and large vessels damage in MS [3].…”

“…The other reasons of HRV decrease in MS pa tients with FBN1 mutations have been extensively discussed [1]. As it was hypothesized previously, the HRV suppression may occur in energy defi cient states of the cardiac pacemaker cells [6], and a number of conditions characterized by excessive inflammation, oxidative stress, insulin resistance and other factors.…”

Is heart rate variability related to baroreceptors or FBN1 mutations?

“…I have read the article "A marked decrease in heart rate variability in Marfan syndrome patients with confirmed FBN1 mutations" by Cherkas et al with interest [1]. The authors concluded that a marked decrease of heart rate variability (HRV) may be an important clinical feature in Marfan syndrome (MS) patients with confirmed FBN1 gene mutations.…”