https://doi.org/10.1007/s00392-025-02625-4
1LMU Klinikum der Universität München Medizinische Klinik und Poliklinik I München, Deutschland; 2LMU Klinikum der Universität München Med. Klinik u. Poliklinik, Interventionelle Elektrophysiologie München, Deutschland
Mitochondrial diseases are rare conditions with a prevalence of 1/5000-1/10000 births. As their altered cell metabolism affects tissues with high energy demand, patients predominantly present with neuromuscular symptoms. Cardiac involvement is frequent and has been associated with left ventricular hypertrophy. However, diastolic dysfunction has not yet been investigated in this patient group.
Purpose
The objective of this study is to examine structural changes and their effect on diastolic function in one of the largest cohorts of patients with mitochondrial disease.
Methods
We retrospectively examined echocardiographic findings of 108 patients presenting in our outpatient clinic for mitochondrial disease.
Results
108 patients at a median age of 45 years were evaluated for structural heart disease. Patient characteristics and prevailing mitochondrial diseases are depicted in Table 1. Biventricular systolic function was within normal range. 26 (24%) patients showed increased septal wall thickness above 12mm. Left ventricular hypertrophy was most common in patients with MELAS (8/21 patients), CPEO/KSS (6/29 patients) and mitochondrial myopathy(5/15 patients). 25 patients displayed at least one marker of diastolic dysfunction, of which 15 had normal wall thickness. Most frequently affected were patients with MELAS (7/21), mitochondrial myopathy (8/15) CPEO/KSS (5/29)and LHON (5/ 14). Four patients showed signs of severe diastolic dysfunction. This correlated with increasing septal wall thickness.
Conclusions
Left ventricular hypertrophy and diastolic dysfunction are frequent in mitochondrial disease. Patients with mitochondrial myopathy, MELAS and CPEO, in particular, are at risk of developing HFpEF. Diastolic dysfunction can be present even before hypertrophy.
|
|
|
|
|
Age[years] |
45 |
30-58 |
|
Female Sex |
62 |
57.4% |
|
Mitochondrial Disease |
|
|
|
CPEO |
26 |
24.1% |
|
MELAS |
21 |
19.4% |
|
Mitochondrial Myopathy |
15 |
13.9% |
|
LHON |
14 |
13.0% |
|
POL- G |
6 |
5.6% |
|
KSS |
3 |
2.8% |
|
MERFF |
2 |
1.9% |
|
MNGIE |
2 |
1.9% |
|
Leigh |
2 |
1.9% |
|
other |
18 |
16.7 |
|
NT-pBNP[pg/ml] |
73 |
43-172 |
|
IVSD[mm] |
10 |
8-11 |
|
LVEF[%] |
60 |
45-60 |
|
GLS[%] |
19.0 |
15.8-20.0 |
|
TAPSE[mm] |
22 |
19-25 |
|
E/A |
1.1 |
0.9-1.2 |
|
E[cm/s] |
71 |
59-81 |
|
A[cm/s] |
66 |
58-78 |
|
TR Vmax[cm/s] |
235 |
213-253 |
|
E/E’ |
6.7 |
5.8-8.0 |