Detection of early cardiac disease manifestation in propionic acidemia – Results of a monocentric cross-sectional study

Kovacevic, Alexander; Garbade, Sven F.; Hörster, Friederike; Hoffmann, Georg F.; Gorenflo, Matthias; Mereles, Derliz; Kölker, Stefan; Staufner, Christian

doi:10.1016/j.ymgme.2022.10.007

Cited by 4 publications

(9 citation statements)

References 41 publications

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“…In a recent study by our group, we found systolic and diastolic LV dysfunction in up to 72% of PA patients using advanced echocardiographic techniques [9].…”

Section: Introductionmentioning

confidence: 83%

“…All individuals with confirmed PA (n = 18) were enrolled during the study period 2015-2020. The study individuals have been published before within a retrospective study on LV cardiac phenotype in PA [7], a prospective study on LV cardiac dysfunction in PA [9], and as part of larger studies on organic acidemias within the E-IMD project (please see Funding for further details) [3,15,16].…”

Section: Methodsmentioning

confidence: 99%

“…Transthoracic echocardiography was performed during routine outpatient visits according to current international guidelines by a single cardiologist following a predefined protocol [14,17,18]. Echocardiograms were made with Philips Diagnostic Ultrasound System; for details regarding software and sector array transducers, see [9].…”

Section: Methodsmentioning

confidence: 99%

“…This approach for measuring RV longitudinal strain was chosen due to the availability of normal values for the different age groups, and in view of our available ultrasound and software equipment. GLS measurements were made as described before [9]. To evaluate RV diastolic function, we assessed Tricuspid valve (TV) inflow velocities by conventional Doppler and Tricuspid annulus early and late diastolic velocities by tissue Doppler (TDI): TV E/A, TV e'/a' (the latter in adult patients only as not standardly used in children), and TV E/e'.…”

Section: Methodsmentioning

confidence: 99%

“…Therefore, RV dysfunction may be also due to close interaction between LV and RV function and not attributed to predominant right heart failure, e.g., due to pulmonary hypertension or in right-sided obstructive lesions in congenital heart disease [13]. Both conditions are neither commonly seen in PA nor described as associated with PA [5][6][7][8][9].…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study

et al. 2023

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(1) Background: In propionic acidemia (PA), myocardial involvement often leads to progressive cardiac dysfunction of the left ventricle (LV). Cardiomyopathy (CM) is an important contributor to mortality. Although known to be of prognostic value in CM, there are no published data on right ventricular (RV) function in PA patients. (2) Methods: In this cross-sectional single-center study, systolic and diastolic RV function of PA patients was assessed by echocardiography, including frequency, onset, and combinations of echocardiographic parameters, as well as correlations to LV size and function. (3) Results: N = 18 patients were enrolled. Tricuspid annulus S’ was abnormal in 16.7%, RV-longitudinal strain in 11.1%, tricuspid annular plane systolic excursion (TAPSE) in 11.1%, Tricuspid valve (TV) E/e’ in 33.3%, and TV E/A in 16.7%. The most prevalent combinations of pathological parameters were TV E/A + TV E/e’ and TAPSE + TV S’. With age, the probability of developing abnormal RV function increases according to age-dependent normative data. There is a significant correlation between TAPSE and mitral annular plane systolic excursion (MAPSE), and RV/LV-longitudinal strain (p ≤ 0.05). N = 5 individuals died 1.94 years (mean) after cardiac evaluation for this study, and all had abnormal RV functional parameters. (4) Conclusions: Signs of diastolic RV dysfunction can be found in up to one third of individuals, and systolic RV dysfunction in 16.7% of individuals in our cohort. RV function is impaired in PA patients with a poor outcome. RV functional parameters should be used to complement clinical and left ventricular echocardiographic findings.

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“…In a recent study by our group, we found systolic and diastolic LV dysfunction in up to 72% of PA patients using advanced echocardiographic techniques [9].…”

Section: Introductionmentioning

confidence: 83%