TY - JOUR
A1 - Petritsch, Bernhard
A1 - Pannbecker, Pauline
A1 - Weng, Andreas M.
A1 - Grunz, Jan-Peter
A1 - Veldhoen, Simon
A1 - Bley, Thorsten A.
A1 - Kosmala, Aleksander
T1 - Split-filter dual-energy CT pulmonary angiography for the diagnosis of acute pulmonary embolism: a study on image quality and radiation dose
JF - Quantitative Imaging in Medicine and Surgery
N2 - Background: Computed tomography (CT) pulmonary angiography is the diagnostic reference standard in suspected pulmonary embolism (PE). Favorable results for dual-energy CT (DECT) images have been reported for this condition. Nowadays, dual-energy data acquisition is feasible with different technical options, including a single-source split-filter approach. Therefore, the aim of this retrospective study was to investigate image quality and radiation dose of thoracic split-filter DECT in comparison to conventional single-energy CT in patients with suspected PE.
Methods: A total of 110 CT pulmonary angiographies were accomplished either as standard single-energy CT with automatic tube voltage selection (ATVS) (n=58), or as split-filter DECT (n=52). Objective [pulmonary artery CT attenuation, signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR)] and subjective image quality [four-point Likert scale; three readers (R)] were compared among the two study groups. Size-specific dose estimates (SSDE), dose-length-product (DLP) and volume CT dose index (CTDIvol) were assessed for radiation dose analysis.
Results: Split-filter DECT images yielded 67.7% higher SNR (27.0 vs. 16.1; P<0.001) and 61.9% higher CNR (22.5 vs. 13.9; P<0.001) over conventional single-energy images, whereas CT attenuation was significantly lower (344.5 vs. 428.2 HU; P=0.013). Subjective image quality was rated good or excellent in 93.0%/98.3%/77.6% (R1/R2/R3) of the single-energy CT scans, and 84.6%/82.7%/80.8% (R1/R2/R3) of the split-filter DECT scans. SSDE, DLP and CTDIvol were significantly lower for conventional single-energy CT compared to split-filter DECT (all P<0.05), which was associated with 26.7% higher SSDE.
Conclusions: In the diagnostic workup of acute PE, the split-filter allows for dual-energy data acquisition from single-source single-layer CT scanners. The existing opportunity to assess pulmonary “perfusion” based on analysis of iodine distribution maps is associated with higher radiation dose in terms of increased SSDE than conventional single-energy CT with ATVS. Moreover, a proportion of up to 3.8% non-diagnostic examinations in the current reference standard test for PE is not negligible.
KW - dual-energy
KW - CT-angiography
KW - vascular
KW - pulmonary arteries
KW - embolism/thrombosis
Y1 - 2021
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-231456
VL - 11
IS - 5
ER -
TY - JOUR
A1 - Petritsch, Bernhard
A1 - Köstler, Herbert
A1 - Gassenmaier, Tobias
A1 - Kunz, Andreas S
A1 - Bley, Thorsten A
A1 - Horn, Michael
T1 - An investigation into potential gender-specific differences in myocardial triglyceride content assessed by \(^{1}\)H-Magnetic Resonance Spectroscopy at 3Tesla
JF - Journal of International Medical Research
N2 - Objective:
Over the past decade, myocardial triglyceride content has become an accepted biomarker for chronic metabolic and cardiac disease. The purpose of this study was to use proton (hydrogen 1)-magnetic resonance spectroscopy (\(^{1}\)H-MRS) at 3Tesla (3 T) field strength to assess potential gender-related differences in myocardial triglyceride content in healthy individuals.
Methods:
Cardiac MR imaging was performed to enable accurate voxel placement and obtain functional and morphological information. Double triggered (i.e., ECG and respiratory motion gating) \(^{1}\)H-MRS was used to quantify myocardial triglyceride levels for each gender. Two-sample t-test and Mann-Whitney U-test were used for statistical analyses.
Results:
In total, 40 healthy volunteers (22 male, 18 female; aged >18 years and age matched) were included in the study. Median myocardial triglyceride content was 0.28% (interquartile range [IQR] 0.17–0.42%) in male and 0.24% (IQR 0.14–0.45%) in female participants, and no statistically significant difference was observed between the genders. Furthermore, no gender-specific difference in ejection fraction was observed, although on average, male participants presented with a higher mean ± SD left ventricular mass (136.3 ± 25.2 g) than female participants (103.9 ± 16.1 g).
Conclusions:
The study showed that \(^{1}\)H-MRS is a capable, noninvasive tool for acquisition of myocardial triglyceride metabolites. Myocardial triglyceride concentration was shown to be unrelated to gender in this group of healthy volunteers.
KW - cardiac
KW - magnetic resonance imaging
KW - 1H-Magnetic resonance spectroscopy (1H-MRS)
KW - myocardium
KW - triglycerides
KW - metabolism
KW - gender
Y1 - 2016
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-168808
VL - 44
IS - 3
ER -
TY - JOUR
A1 - Petritsch, Bernhard
A1 - Goltz, Jan Peter
A1 - Hahn, Dietbert
A1 - Wendel, Frank
T1 - Extensive craniocervical bone pneumatization
JF - Diagnostic and Interventional Radiology
N2 - We report a case of extensive abnormal craniocervical bone pneumatization accidentally found in a patient without any history of trauma or surgery. The patient had only mild unspecific thoracic pain and bilateral paresthesia that did not correlate with computed tomography findings.
KW - vertebral pneumaticity
KW - sauropod dinosaurs
KW - bone
KW - skull
KW - cervical vertebrae pneumatization
Y1 - 2011
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-139349
VL - 17
IS - 4
ER -
TY - JOUR
A1 - Petritsch, Berhard
A1 - Kosmala, Aleksander
A1 - Weng, Andreas Max
A1 - Bley, Thorsten Alexander
T1 - Tin-filtered 100kV ultra-low-dose CT of the paranasal sinus: initial clinical results
JF - PLoS ONE
N2 - Objectives
To investigate the feasibility, diagnostic image quality and radiation dose of 3\(^{rd}\) generation dual-source computed tomography (CT) using a tin-filtered 100 kV protocol in patients with suspected acute inflammatory sinus disease.
Methods
We retrospectively evaluated 109 consecutive patients who underwent CT (Siemens SOMATOM Force, Erlangen, Germany) of the paranasal sinus with a new tin-filtered scanprotocol (Sn100 kV; tube current 35 mAs) using iterative reconstruction. Two readers independently assessed subjective image quality using a five-point Likert scale (1 = excellent, 5 = non-diagnostic). Inter-observer agreement was calculated and expressed as percentage of agreement. Noise was determined for calculation of signal-to-noise-ratio (SNR). Effective radiation dose (ED) was calculated from the dose-length-product (DLP).
Results
All examinations showed diagnostic image quality regarding evaluation of inflammatory sinus disease. On average, subjective general image quality was rated moderate (= 3) with a percentage of agreement between the observers of 81%. The mean image noise was 14.3 HU. The calculated median SNR was 6.0 for intraorbital fat, and 3.6 for the vitreous body, respectively. The median DLP was 2.1 mGy*cm, resulting in a median ED of 0.012 mSv.
Conclusions
Taking the study limitations into account, ultra-low-dose tin-filtered CT of the paranasal sinus at a tube voltage of 100 kV utilizing an iterative reconstruction algorithm provides for reliable exclusion of suspected acute inflammatory sinus disease in 100% of the cases.
KW - Computed axial tomography
KW - Inflammatory diseases
KW - Radiation exposure
KW - Diagnostic medicine
KW - Fats
KW - Mastoid process
KW - X-ray radiography
KW - Soft tissues
Y1 - 2019
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-204127
VL - 14
IS - 5
ER -
TY - JOUR
A1 - Pennig, Lenhard
A1 - Hoyer, Ulrike Cornelia Isabel
A1 - Krauskopf, Alexandra
A1 - Shahzad, Rahil
A1 - Jünger, Stephanie T.
A1 - Thiele, Frank
A1 - Laukamp, Kai Roman
A1 - Grunz, Jan-Peter
A1 - Perkuhn, Michael
A1 - Schlamann, Marc
A1 - Kabbasch, Christoph
A1 - Borggrefe, Jan
A1 - Goertz, Lukas
T1 - Deep learning assistance increases the detection sensitivity of radiologists for secondary intracranial aneurysms in subarachnoid hemorrhage
JF - Neuroradiology
N2 - Purpose
To evaluate whether a deep learning model (DLM) could increase the detection sensitivity of radiologists for intracranial aneurysms on CT angiography (CTA) in aneurysmal subarachnoid hemorrhage (aSAH).
Methods
Three different DLMs were trained on CTA datasets of 68 aSAH patients with 79 aneurysms with their outputs being combined applying ensemble learning (DLM-Ens). The DLM-Ens was evaluated on an independent test set of 104 aSAH patients with 126 aneuryms (mean volume 129.2 ± 185.4 mm3, 13.0% at the posterior circulation), which were determined by two radiologists and one neurosurgeon in consensus using CTA and digital subtraction angiography scans. CTA scans of the test set were then presented to three blinded radiologists (reader 1: 13, reader 2: 4, and reader 3: 3 years of experience in diagnostic neuroradiology), who assessed them individually for aneurysms. Detection sensitivities for aneurysms of the readers with and without the assistance of the DLM were compared.
Results
In the test set, the detection sensitivity of the DLM-Ens (85.7%) was comparable to the radiologists (reader 1: 91.2%, reader 2: 86.5%, and reader 3: 86.5%; Fleiss κ of 0.502). DLM-assistance significantly increased the detection sensitivity (reader 1: 97.6%, reader 2: 97.6%,and reader 3: 96.0%; overall P=.024; Fleiss κ of 0.878), especially for secondary aneurysms (88.2% of the additional aneurysms provided by the DLM).
Conclusion
Deep learning significantly improved the detection sensitivity of radiologists for aneurysms in aSAH, especially for secondary aneurysms. It therefore represents a valuable adjunct for physicians to establish an accurate diagnosis in order to optimize patient treatment.
KW - aneurysms
KW - aneurysmal subarachnoid hemorrhage
KW - CT angiography
KW - deep learning
KW - convolutional neural networks
Y1 - 2021
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-308117
SN - 0028-3940
SN - 1432-1920
VL - 63
IS - 12
ER -
TY - JOUR
A1 - Patzer, Theresa Sophie
A1 - Kunz, Andreas Steven
A1 - Huflage, Henner
A1 - Luetkens, Karsten Sebastian
A1 - Conrads, Nora
A1 - Gruschwitz, Philipp
A1 - Pannenbecker, Pauline
A1 - Ergün, Süleyman
A1 - Bley, Thorsten Alexander
A1 - Grunz, Jan-Peter
T1 - Quantitative and qualitative image quality assessment in shoulder examinations with a first-generation photon-counting detector CT
JF - Scientific Reports
N2 - Photon-counting detector (PCD) CT allows for ultra-high-resolution (UHR) examinations of the shoulder without requiring an additional post-patient comb filter to narrow the detector aperture. This study was designed to compare the PCD performance with a high-end energy-integrating detector (EID) CT. Sixteen cadaveric shoulders were examined with both scanners using dose-matched 120 kVp acquisition protocols (low-dose/full-dose: CTDI\(_{vol}\) = 5.0/10.0 mGy). Specimens were scanned in UHR mode with the PCD-CT, whereas EID-CT examinations were conducted in accordance with the clinical standard as “non-UHR”. Reconstruction of EID data employed the sharpest kernel available for standard-resolution scans (ρ\(_{50}\) = 12.3 lp/cm), while PCD data were reconstructed with both a comparable kernel (11.8 lp/cm) and a sharper dedicated bone kernel (16.5 lp/cm). Six radiologists with 2–9 years of experience in musculoskeletal imaging rated image quality subjectively. Interrater agreement was analyzed by calculation of the intraclass correlation coefficient in a two-way random effects model. Quantitative analyses comprised noise recording and calculating signal-to-noise ratios based on attenuation measurements in bone and soft tissue. Subjective image quality was higher in UHR-PCD-CT than in EID-CT and non-UHR-PCD-CT datasets (all p < 0.001). While low-dose UHR-PCD-CT was considered superior to full-dose non-UHR studies on either scanner (all p < 0.001), ratings of low-dose non-UHR-PCD-CT and full-dose EID-CT examinations did not differ (p > 0.99). Interrater reliability was moderate, indicated by a single measures intraclass correlation coefficient of 0.66 (95% confidence interval: 0.58–0.73; p < 0.001). Image noise was lowest and signal-to-noise ratios were highest in non-UHR-PCD-CT reconstructions at either dose level (p < 0.001). This investigation demonstrates that superior depiction of trabecular microstructure and considerable denoising can be realized without additional radiation dose by employing a PCD for shoulder CT imaging. Allowing for UHR scans without dose penalty, PCD-CT appears as a promising alternative to EID-CT for shoulder trauma assessment in clinical routine.
KW - bone
KW - musculoskeletal system
Y1 - 2023
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-357925
VL - 13
ER -
TY - JOUR
A1 - Patzer, Theresa Sophie
A1 - Kunz, Andreas Steven
A1 - Huflage, Henner
A1 - Conrads, Nora
A1 - Luetkens, Karsten Sebastian
A1 - Pannenbecker, Pauline
A1 - Paul, Mila Marie
A1 - Ergün, Süleyman
A1 - Bley, Thorsten Alexander
A1 - Grunz, Jan-Peter
T1 - Ultrahigh-resolution photon-counting CT in cadaveric fracture models: spatial frequency is not everything
JF - Diagnostics
N2 - In this study, the impact of reconstruction sharpness on the visualization of the appendicular skeleton in ultrahigh-resolution (UHR) photon-counting detector (PCD) CT was investigated. Sixteen cadaveric extremities (eight fractured) were examined with a standardized 120 kVp scan protocol (CTDI\(_{vol}\) 10 mGy). Images were reconstructed with the sharpest non-UHR kernel (Br76) and all available UHR kernels (Br80 to Br96). Seven radiologists evaluated image quality and fracture assessability. Interrater agreement was assessed with the intraclass correlation coefficient. For quantitative comparisons, signal-to-noise-ratios (SNRs) were calculated. Subjective image quality was best for Br84 (median 1, interquartile range 1–3; p ≤ 0.003). Regarding fracture assessability, no significant difference was ascertained between Br76, Br80 and Br84 (p > 0.999), with inferior ratings for all sharper kernels (p < 0.001). Interrater agreement for image quality (0.795, 0.732–0.848; p < 0.001) and fracture assessability (0.880; 0.842–0.911; p < 0.001) was good. SNR was highest for Br76 (3.4, 3.0–3.9) with no significant difference to Br80 and Br84 (p > 0.999). Br76 and Br80 produced higher SNRs than all kernels sharper than Br84 (p ≤ 0.026). In conclusion, PCD-CT reconstructions with a moderate UHR kernel offer superior image quality for visualizing the appendicular skeleton. Fracture assessability benefits from sharp non-UHR and moderate UHR kernels, while ultra-sharp reconstructions incur augmented image noise.
KW - photon-counting
KW - tomography
KW - X-ray computed
KW - fracture
KW - cancellous bone
KW - convolution kernel
Y1 - 2023
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-319281
SN - 2075-4418
VL - 13
IS - 10
ER -
TY - THES
A1 - Pannenbecker, Pauline Luisa
T1 - Vergleich von Dual- und Single-Source Dual-Energy CT in der Diagnostik der akuten Lungenarterienembolie hinsichtlich Bildqualität und Strahlendosis
T1 - Comparison of Dual- and Single-Source Dual-Energy CT for the Diagnosis of Acute Pulmonary Embolism Regarding Image Quality and Radiation Dose
N2 - Hintergrund: Die CT-Pulmonalisangiographie (CTPA) ist diagnostischer Goldstandard der Diagnostik der Lungenarterienembolie (LAE). Durch Dual-Energy CT (DECT) können mithilfe von Joddistributionskarten LAEs auf Segment- und Subsegmentebene besser detektiert werden. Neben der etablierten Dual-Source-Technik ermöglicht ein Split-Filter eine DECT-Akquisition mit Single-Source-Scannern. Ein solcher SF-DECT-Scanner sollte hinsichtlich der Bildqualität sowie der Strahlendosis mit einem etabliertem DS-DECT-Gerät verglichen werden.
Material und Methoden: Insgesamt wurden 135 Patienten eingeschlossen, die eine CTPA erhielten: 68 erhielten einen DS-DECT-Scan mit 90/Sn150 kV und 67 einen SF-DECT-Scan mit Au/Sn120 kV. Für beide Protokolle wurden farbkodierte Joddistributionskarten erstellt. Die objektive (CT-Abschwächung in relevanten Gefäßen in HU, Signal-Rausch-Verhältnis (SNR), Kontrast-Rausch-Verhältnis (CNR), perfused blood volume (PBV)) und subjektive Bildqualität (2 Befunder (B), 5-Punkte-Likert-Skala) sowie Dosisparameter wurden erhoben und verglichen.
Ergebnisse: Alle CTPAs waren von diagnostischer Qualität. Ihre subjektive Bildqualität wurde in 80,9/82,4% (B1/B2) der DS-DECT und in 77,6/76,1% der SF-DECT als exzellent oder gut bewertet. Die subjektive Bildqualität der Joddistributionskarten der SF-DECT wurde von beiden Befundern als schlechter beurteilt. Die HU-Werte der relevanten Gefäße unterschieden sich nicht signifikant (p>0.05), SNR und CNR der SF-Gruppe waren in zentralen Gefäßen jedoch höher (p<0.05); die PBV-Werte der SF-Gruppe waren teils höher (p<0.05). Alle erhobenen Dosisparameter waren in der SF-Gruppe höher (p<0,05).
Konklusion: In der diagnostischen Abklärung eines V.a. eine akute LAE ermöglicht der Einsatz eines Split-Filters an einem Single-Source-CT-Scanner eine Dual-Energy-Untersuchung. Dies geht im Vergleich zu etablierten DS-Scannern jedoch mit einer schlechteren Qualität der Joddistributionskarten und einer höheren Strahlendosis einher.
N2 - Background: CT pulmonary angiography (CTPA) has established as reference standard in the diagnostic workup of suspected pulmonary embolism (PE). With dual-energy CT (DECT), iodine maps can help to detect segmental and subsegmental PEs. Next to established dual-source techniques, the use of a split-filter enables DECT acquisition with single-source scanners. This study compared a SF-DECT scanner with an established DS-DECT scanner with regard to image quality and radiation dose.
Material and Methods: A total of 135 patients receiving a CTPA were included: 68 received a DS-DECT scan with 90/Sn 150 kV and 67 received a SF-DECT scan with Au/Sn 120 kV. Color-coded iodine-distribution maps were reconstructed for both protocols. Objective (CT attenuation in relevant vessels in HU, signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), perfused blood volume (PBV)) and subjective image quality (2 readers (R), 5-point Likert scale) as well as radiation dose parameters were documented and compared.
Results: All CTPAs were of diagnostic image quality. Subjective image quality was rated as excellent or good in 80,9/82,4% (R1/R2) of DS-DECT scans and in 77,6/76,1% of SF-DECT scans. Subjective image quality of iodine maps of SF-DECT scans was rated lower by both readers. For objective image quality, CT attenuation in HU of relevant vessels did not differ significantly (p>0.05), while SNR and CNR of central vessels in the SF-collective were significantly higher (p<0.05); some PBV-values of the SF-collective were significantly higher (p<0.05). All assessed radiation dose parameters were significantly higher in the SF-collective (p<0.05).
Conclusion: In the diagnostic workup of suspected PE the use of a split-filter enables dual-energy acquisition with a single-source CT scanner. However, this is associated with a lower image quality of iodine maps and a higher radiation dose compared to established DS scanners.
KW - Lungenembolie
KW - Dual-Source-Computertomographie
KW - Computertomografie
KW - Strahlendosis
KW - Single-Source-Dual-Energy-CT
KW - Split-Filter-Dual-Energy-CT
KW - Image Quality
KW - Bildqualität
Y1 - 2024
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-352064
ER -
TY - THES
A1 - Oechsner, Markus
T1 - Morphologische und funktionelle 1H-Magnetresonanztomographie der menschlichen Lunge bei 0.2 und 1.5 Tesla
T1 - Morphological and functional 1H magnetic resonance tomography of the human lung at 0.2 and 1.5 tesla
N2 - Das Ziel dieser Arbeit war es, Methoden und Techniken für die morphologische und funktionelle Bildgebung der menschlichen Lunge mittels Kernspintomographie bei Feldstärken von 0,2 Tesla und 1,5 Tesla zu entwickeln und zu optimieren. Bei 0,2 Tesla wurde mittels der gemessenen Relaxationszeiten T1 und T2* eine 2D und eine 3D FLASH Sequenz zur Untersuchung der Lungenmorphologie optimiert. Sauerstoffgestützte Messungen der Relaxationszeiten T1 und T2* sowie eine SpinLabeling Sequenz liefern funktionelle Informationen über den Sauerstofftransfer und die Perfusion der Lungen. Bei 1,5 Tesla wurde die Lungenperfusion mittels MR-Kontrastmittel mit einer 2D und einer 3D Sequenz unter Verwendung der Präbolus Technik quantifiziert. Zudem wurden zwei MR-Navigationstechniken entwickelt, die es ermöglichen Lungenuntersuchungen unter freier Atmung durchzuführen und aus den Daten artefaktfreie Bilder zu rekonstruieren. Diese Techniken können in verschiedenste Sequenzen für die Lungenbildgebung implementiert werden, ohne dass die Messzeit dadurch signifikant verlängert wird.
N2 - The purpose of this thesis was to make a contribution to the development of lung MRI. While we developed and implemented new sequences and procedures both in the area of low-field MRI (0.2 Tesla) and 1.5 Tesla, we also took existing technologies into account by modifying and optimizing them for the working conditions at hand. In the process, we focused on techniques for both morphological and functional examination of the lung. Lung scans using an open 0.2 Tesla tomograph were an important component of this. Our first objective was to develop various methods for morphological and functional lung MRI, adapt them to altered conditions and further optimize them. The second objective was to contribute more in-depth research of contrast agent-based quantification of lung perfusion for the clinical standard of 1.5 Tesla. Additionally, we developed navigation methods which allow for scans of the lung under conditions of free breathing and without the use of external measurement devices.
KW - NMR-Bildgebung
KW - Lunge
KW - 0.2 Tesla
KW - Sauerstoff
KW - Präbolus
KW - Perfusion
KW - freie Atmung
KW - Navigator
KW - Bilderzeugung
KW - Bildgebendes Verfahren
KW - oxygen-enhanced
KW - spin labeling
KW - contrast-enhanced
KW - prebolus
KW - free respiration
Y1 - 2011
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-66942
ER -
TY - JOUR
A1 - Oder, Daniel
A1 - Üceyler, Nurcan
A1 - Liu, Dan
A1 - Hu, Kai
A1 - Petritsch, Bernhard
A1 - Sommer, Claudia
A1 - Ertl, Georg
A1 - Wanner, Christoph
A1 - Nordbeck, Peter
T1 - Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y
JF - BMJ Open
N2 - Objectives: The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function.
Setting and participants: In this monocentric study, all participants presenting with the D313Y haplotype between 2001 and 2015 were comprehensively clinically investigated at baseline and during a 4-year follow-up if available. Five females and one male were included.
Primary and secondary outcome measures: Cardiac, nephrological, neurological, laboratory and quality of life data.
Results: AgalA enzyme activity in leucocytes (0.3±0.9 nmol/min/mg protein (mean±SD)) and serum lyso-Gb3 (0.6±0.3 ng/mL at baseline) were in normal range in all patients. Cardiac morphology and function were normal (left-ventricular (LV) ejection fraction 66±8%; interventricular septum 7.7±1.4 mm; LV posterior wall 7.5±1.4 mm; normalised LV mass in MRI 52±9 g/m2; LV global longitudinal strain −21.6±1.9%) and there were no signs of myocardial fibrosis in cardiac MRI. Cardiospecific biomarkers were also in normal range. Renal function was not impaired (estimated glomerular filtration rate MDRD 103±15 mL/min; serum-creatinine 0.75±0.07 mg/dL; cystatin-c 0.71±0.12 mg/L). One female patient (also carrying a Factor V Leiden mutation) had a transitory ischaemic attack. One patient showed white matter lesions in brain MRI, but none had Fabry-associated pain attacks, pain crises, evoked pain or permanent pain. Health-related quality of life analysis revealed a reduction in individual well-being. At long-term follow-up after 4 years, no significant change was seen in any parameter.
Conclusions: The results of the current study suggest that the D313Y genotype does not lead to severe organ manifestations as seen in genotypes known to be causal for classical FD."
KW - inherited metabolic disorders
KW - Anderson-Fabry Disease
KW - D313Y genotype
KW - Fabry cardiomyopathy
KW - Fabry nephropathy
KW - Fabry-associated pain
Y1 - 2016
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-161210
VL - 6
ER -