Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease
Background: Fabry disease (FD) causes cerebrovascular disease (CVD) even if asymptomatic, and this is why it is important to identify non-invasive methods to monitor the disease. We evaluated the usefulness of the cerebral autoregulation, vasoreactivity, and neurovascular coupling assessed by transc...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-08-01
|
| Series: | Brain Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2076-3425/10/8/528 |
| _version_ | 1797559751512424448 |
|---|---|
| author | Pedro Castro Mariana Gutierres Gilberto Pereira Susana Ferreira João Paulo Oliveira Elsa Azevedo |
| author_facet | Pedro Castro Mariana Gutierres Gilberto Pereira Susana Ferreira João Paulo Oliveira Elsa Azevedo |
| author_sort | Pedro Castro |
| collection | DOAJ |
| description | Background: Fabry disease (FD) causes cerebrovascular disease (CVD) even if asymptomatic, and this is why it is important to identify non-invasive methods to monitor the disease. We evaluated the usefulness of the cerebral autoregulation, vasoreactivity, and neurovascular coupling assessed by transcranial Doppler (TCD) in FD. Methods: Ten adult patients with classic phenotype FD, without clinical expression of CVD, and ten healthy controls, were included. We monitored cerebral blood flow velocity with TCD in the middle and posterior cerebral arteries, blood pressure, heart rate, and non-invasive expired carbon dioxide (CO<sub>2</sub>). Cerebral autoregulation was calculated from the spontaneous oscillations of blood pressure, cerebral vasoreactivity through CO<sub>2</sub> inhalation and hyperventilation and neurovascular coupling by the flow velocity change to visual stimulation. Results: FD male patients showed blunted vasoreactivity in posterior circulation (0.70 ± 0.36%/mmHg vs. 1.09 ± 0.18%/mmHg CO<sub>2</sub>, <i>p</i> = 0.01) and impaired neurovascular coupling (overshoot 15 ± 2.9% vs. 28 ± 6.1%, <i>p</i> < 0.01). Cerebral autoregulation was similar to controls. Conclusion: Male patients with FD classic phenotype and hitherto clinical expression of CVD already show impairment of cerebral vasoreactivity and neurovascular coupling. It supports the notion of an early dysfunction of cerebral microvascular in a presymptomatic stage of CVD in FD and that TCD could be useful in its assessment. |
| first_indexed | 2024-03-10T17:49:44Z |
| format | Article |
| id | doaj.art-4f5d4143c1c34b5fb5499a67851464e7 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T17:49:44Z |
| publishDate | 2020-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-4f5d4143c1c34b5fb5499a67851464e72023-11-20T09:23:47ZengMDPI AGBrain Sciences2076-34252020-08-0110852810.3390/brainsci10080528Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry DiseasePedro Castro0Mariana Gutierres1Gilberto Pereira2Susana Ferreira3João Paulo Oliveira4Elsa Azevedo5Department of Clinical Neurosciences and Mental Health, Faculty of Medicine of University of Porto, 4200-319 Porto, PortugalDepartment of Clinical Neurosciences and Mental Health, Faculty of Medicine of University of Porto, 4200-319 Porto, PortugalDepartment of Neurology, Centro Hospitalar Universitário de São João, 4200-319 Porto, PortugalDepartment of Medical Genetics, Faculty of Medicine of University of Porto and Centro Hospitalar Universitário de São João, 4200-319 Porto, PortugalDepartment of Medical Genetics, Faculty of Medicine of University of Porto and Centro Hospitalar Universitário de São João, 4200-319 Porto, PortugalDepartment of Clinical Neurosciences and Mental Health, Faculty of Medicine of University of Porto, 4200-319 Porto, PortugalBackground: Fabry disease (FD) causes cerebrovascular disease (CVD) even if asymptomatic, and this is why it is important to identify non-invasive methods to monitor the disease. We evaluated the usefulness of the cerebral autoregulation, vasoreactivity, and neurovascular coupling assessed by transcranial Doppler (TCD) in FD. Methods: Ten adult patients with classic phenotype FD, without clinical expression of CVD, and ten healthy controls, were included. We monitored cerebral blood flow velocity with TCD in the middle and posterior cerebral arteries, blood pressure, heart rate, and non-invasive expired carbon dioxide (CO<sub>2</sub>). Cerebral autoregulation was calculated from the spontaneous oscillations of blood pressure, cerebral vasoreactivity through CO<sub>2</sub> inhalation and hyperventilation and neurovascular coupling by the flow velocity change to visual stimulation. Results: FD male patients showed blunted vasoreactivity in posterior circulation (0.70 ± 0.36%/mmHg vs. 1.09 ± 0.18%/mmHg CO<sub>2</sub>, <i>p</i> = 0.01) and impaired neurovascular coupling (overshoot 15 ± 2.9% vs. 28 ± 6.1%, <i>p</i> < 0.01). Cerebral autoregulation was similar to controls. Conclusion: Male patients with FD classic phenotype and hitherto clinical expression of CVD already show impairment of cerebral vasoreactivity and neurovascular coupling. It supports the notion of an early dysfunction of cerebral microvascular in a presymptomatic stage of CVD in FD and that TCD could be useful in its assessment.https://www.mdpi.com/2076-3425/10/8/528cerebral blood flowneurovascular couplingFabry diseasesmall vessel diseasetranscranial Doppler |
| spellingShingle | Pedro Castro Mariana Gutierres Gilberto Pereira Susana Ferreira João Paulo Oliveira Elsa Azevedo Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease Brain Sciences cerebral blood flow neurovascular coupling Fabry disease small vessel disease transcranial Doppler |
| title | Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease |
| title_full | Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease |
| title_fullStr | Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease |
| title_full_unstemmed | Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease |
| title_short | Evaluation of Cerebral Microvascular Regulatory Mechanisms with Transcranial Doppler in Fabry Disease |
| title_sort | evaluation of cerebral microvascular regulatory mechanisms with transcranial doppler in fabry disease |
| topic | cerebral blood flow neurovascular coupling Fabry disease small vessel disease transcranial Doppler |
| url | https://www.mdpi.com/2076-3425/10/8/528 |
| work_keys_str_mv | AT pedrocastro evaluationofcerebralmicrovascularregulatorymechanismswithtranscranialdopplerinfabrydisease AT marianagutierres evaluationofcerebralmicrovascularregulatorymechanismswithtranscranialdopplerinfabrydisease AT gilbertopereira evaluationofcerebralmicrovascularregulatorymechanismswithtranscranialdopplerinfabrydisease AT susanaferreira evaluationofcerebralmicrovascularregulatorymechanismswithtranscranialdopplerinfabrydisease AT joaopaulooliveira evaluationofcerebralmicrovascularregulatorymechanismswithtranscranialdopplerinfabrydisease AT elsaazevedo evaluationofcerebralmicrovascularregulatorymechanismswithtranscranialdopplerinfabrydisease |