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Diese retrospektive Auswertung von PatientInnendaten der kardiologischen Ambulanz des Universitätsklinikums Würzburg konnte zeigen, dass die Bestimmung der diastolischen Dysfunktion prognostisch relevante Informationen enthält. Das Studienkollektiv wurde anhand der gemessenen Ejektionsfraktion in die zwei Untersuchungsgruppen HFrEF und HFmrEF eingeteilt. Diese zwei Untersuchungsgruppen wurden anhand ihrer klinisch und echokardiographisch bestimmten Charakteristika verglichen. Anschließend wurden drei diastolische Parameter (E/e’, LAVi und TRVmax) auf ihre prognostische Relevanz untersucht. Die abschließende Untersuchung gruppierte die PatientInnen anhand der Schwere ihrer diastolischen Dysfunktion (mild / moderat / schwer) und untersuchte ebenfalls das Langzeitüberleben.
Die HFmrEF-Gruppe zeigte ähnliche klinische Charakteristika wie die HFrEF-Gruppe. Eine ischämische Genese der Herzinsuffizienz wurde in der HFmrEF-Gruppe im Vergleich zur HFrEF-Gruppe häufiger beobachtet.
Die Überlebenszeitanalysen konnten bei PatientInnen in der HFmrEF-Gruppe zeigen, dass ein dilatierter linker Vorhof (LAVi) oder eine große Regurgitation über der Trikuspidalklappe (TRVmax) mit einer schlechten Prognose einhergehen. Bei HFrEF-PatientInnen hingegen konnte dies nicht nachgewiesen werden. Hier zeigte sich, dass insbesondere der Parameter E/e’septal prognostisch relevante Informationen enthält.
Die Auswertung der Untersuchungsgruppen nach Einteilung anhand der Schwere der diastolischen Dysfunktion konnte die gefunden Effekte bestätigen. Eine moderate bis schwere diastolische Dysfunktion war mit einer signifikant schlechteren Prognose behaftet, und zwar sowohl in der HFrEF- wie auch in der HFmrEF-Gruppe.
Die gefunden Ergebnisse zeigen, dass die diastolische Dysfunktion auch bei PatientInnen mit einer systolischen Herzinsuffizienz wichtige prognostische Informationen enthalten. In der klinischen Routine sollte die echokardiographische Bestimmung der diastolischen Herzfunktion standardmäßig durchgeführt werden.
Die Ergebnisse könnten nicht nur in der Diagnostik zur Kategorisierung der PatientInnen und Bestimmung der Prognose, sondern auch hinsichtlich der Therapie von großem zukünftigem Nutzen sein. Hierzu sollten perspektivisch vor allem therapeutische Aspekte in prospektiven, idealerweise randomisierten Studien untersucht werden, welche sich auf die Erkenntnisse dieser Arbeit beziehen.
Background
Fast and accurate T1ρ mapping in myocardium is still a major challenge, particularly in small animal models. The complex sequence design owing to electrocardiogram and respiratory gating leads to quantification errors in in vivo experiments, due to variations of the T\(_{1p}\) relaxation pathway. In this study, we present an improved quantification method for T\(_{1p}\) using a newly derived formalism of a T\(_{1p}\)\(^{*}\) relaxation pathway.
Methods
The new signal equation was derived by solving a recursion problem for spin-lock prepared fast gradient echo readouts. Based on Bloch simulations, we compared quantification errors using the common monoexponential model and our corrected model. The method was validated in phantom experiments and tested in vivo for myocardial T\(_{1p}\) mapping in mice. Here, the impact of the breath dependent spin recovery time T\(_{rec}\) on the quantification results was examined in detail.
Results
Simulations indicate that a correction is necessary, since systematically underestimated values are measured under in vivo conditions. In the phantom study, the mean quantification error could be reduced from − 7.4% to − 0.97%. In vivo, a correlation of uncorrected T\(_{1p}\) with the respiratory cycle was observed. Using the newly derived correction method, this correlation was significantly reduced from r = 0.708 (p < 0.001) to r = 0.204 and the standard deviation of left ventricular T\(_{1p}\) values in different animals was reduced by at least 39%.
Conclusion
The suggested quantification formalism enables fast and precise myocardial T\(_{1p}\) quantification for small animals during free breathing and can improve the comparability of study results. Our new technique offers a reasonable tool for assessing myocardial diseases, since pathologies that cause a change in heart or breathing rates do not lead to systematic misinterpretations. Besides, the derived signal equation can be used for sequence optimization or for subsequent correction of prior study results.
Background
Anderson–Fabry disease (FD) is an X-linked lysosomal storage disorder with varying organ involvement and symptoms, depending on the underlying mutation in the alpha-galactosidase A gene (HGNC: GLA). With genetic testing becoming more readily available, it is crucial to precisely evaluate pathogenicity of each genetic variant, in order to determine whether there is or might be not a need for FD-specific therapy in affected patients and relatives at the time point of presentation or in the future.
Methods
This case series investigates the clinical impact of the specific GLA gene variant c.376A>G (p.Ser126Gly) in five (one heterozygous and one homozygous female, three males) individuals from different families, who visited our center between 2009 and 2021. Comprehensive neurological, nephrological and cardiac examinations were performed in all cases. One patient received a follow-up examination after 12 years.
Results
Index events leading to suspicion of FD were mainly unspecific neurological symptoms. However, FD-specific biomarkers, imaging examinations (i.e., brain MRI, heart MRI), and tissue-specific diagnostics, including kidney and skin biopsies, did not reveal evidence for FD-specific symptoms or organ involvement but showed normal results in all cases. This includes findings from 12-year follow-up in one patient with renal biopsy.
Conclusion
These findings suggest that p.Ser126Gly represents a benign GLA gene variant which per se does not cause FD. Precise clinical evaluation in individuals diagnosed with genetic variations of unknown significance should be performed to distinguish common symptoms broadly prevalent in the general population from those secondary to FD.
Aims
The role of diastolic dysfunction (DD) in prognostic evaluation in heart failure (HF) patients with impaired systolic function remains unclear. We investigated the impact of echocardiography-defined DD on survival in HF patients with mid-range (HFmrEF, EF 41–49%) and reduced ejection fraction (HFrEF, EF < 40%).
Methods and results
A total of 2018 consecutive hospitalized HF patients were retrospectively included and divided in two groups based on baseline EF: HFmrEF group (n = 951, aged 69 ± 13 years, 74.2% male) and HFrEF group (n = 1067, aged 68 ± 13 years, 76.3% male). Clinical data were collected and analysed. All patients completed ≥1 year clinical follow-up. The primary endpoint was defined as all-cause death (including heart transplantation) and cardiovascular (CV)-related death. All-cause mortality (30.8% vs. 24.9%, P = 0.003) and CV mortality (19.1% vs. 13.5%, P = 0.001) were significantly higher in the HFrEF group than the HFmrEF group during follow-up [median 24 (13–36) months]. All-cause mortality increased in proportion to DD severity (mild, moderate, and severe) in either HFmrEF (17.1%, 25.4%, and 37.0%, P < 0.001) or HFrEF (18.9%, 30.3%, and 39.2%, P < 0.001) patients. The risk of all-cause mortality [hazard ratio (HR) = 1.347, P = 0.015] and CV mortality (HR = 1.508, P = 0.007) was significantly higher in HFrEF patients with severe DD compared with non-severe DD after adjustment for identified clinical and echocardiographic covariates. For HFmrEF patients, severe DD was independently associated with increased all-cause mortality (HR = 1.358, P = 0.046) but not with CV mortality (HR = 1.155, P = 0.469).
Conclusions
Echocardiography-defined severe DD is independently associated with increased all-cause mortality in patients with HFmrEF and HFrEF.