bluuebunny/crossref_metadata_2025_split huggingface dataset:
P799 The echocardiographic and clinical characteristics of Fabry patients without overt left ventricular hypertrophy but progressing despite on enzyme replacement therapy
Authors: Lee S Y , Lee S H , Park Y H 
Published: January 2020

Abstract

Background
Fabry disease (FD) is X-linked genetic disorder caused by the deficiency or absent activity of lysosomal α- galactosidase. When the heart is involved, progressive left ventricular hypertrophy (LVH) is the key feature. Although, LVH is not present in all subjects, some of them progress with LVH despite enzyme replacement therapy (ERT). The present study aimed to evaluate the characteristics of patient of FD without overt LVH, but progresses with their left ventricular mass index (LVMI).
Method : This study includes subjects carrying genetic mutations for FD without LVH (n = 12) in a single tertiary center. ‘Decreasing LVMI group (Group1)’ was defined when pre-ERT LVMI minus last LVMI value obtained by echocardiography was positive, and when negative, defined as ‘Increasing LVMI group (Group 2)’. The baseline characteristics and echocardiographic parameters including global strain was analyzed.
Result : Total 6 patients were classified as Group 1 and 2 each. The median age at diagnosis for male was 21 vs 27 for each group, and 21 vs 31 for female. The median follow-up duration was 4.0 vs 5.7 yr. The antibody formation for replaced enzyme was 3 for Group 2 and any family member who developed overt LVH was much 1 vs 3 for group 1 vs 2. Initial 3 plane GLS was worse and showed trend to drop in Group 2.
Conclusion : In the Fabry patients get worse with their LVMI but still not developed overt LVH despite enzyme replacement therapy, there are some clinical and echo-parameter difference. These findings could suggest insufficient enzyme replacement therapy.
Group 1 (n = 6) Group 2 (n = 6) Female/Male 4/2 3/3 Age of at Dx (Female) (median) 21 28 Age of at Dx (Male) (median) 21 31 F/U duration (median) 4.0 yrs 5.7 yrs Antibody formation 0 3 Any Overt LVH family Genotype c.56T &gt; C c.40-11T &gt; A, 782_delG, c.658C &gt; T Initial LVMI (Median) 98.2g/m2 70.9g/m2 Initial GLS (3P) -19 -17.8 Continuously elevated LysoGb3 2 4 Proteinuria &gt;300mg 1 3 (1 preparing HD)
P802 Delayed time to peak left ventricular outflow tract velocity is associated with symptomatic status in patients with hypertrophic obstructive cardiomyopathy
Authors: Huurman R , Schinkel A , Bowen D , Hirsch A , Michels M 
Published: January 2020

Abstract

Funding Acknowledgements
None.
The presence and magnitude of left ventricular outflow tract (LVOT) obstruction in hypertrophic obstructive cardiomyopathy (HOCM) patients is weakly associated with presence of symptoms. The factors underlying this are not well understood. We hypothesize that time to peak velocity (TPV) of LVOT flow is associated with symptomatic status.
We included 136 HOCM patients (58% men, mean age 55 ± 14 years) with peak gradients ≥30 mmHg at rest or during Valsalva without aortic valve stenosis. At rest and during Valsalva, continuous wave Doppler tracings from 3 consecutive beats were used to assess peak velocity (PV), left ventricular ejection time (LVET) and TPV, which was defined as the time interval between the onset of flow over the LVOT and the moment of PV. Differences were compared between asymptomatic and symptomatic patients (defined as New York Heart Association class I vs. II-IV). The relation between symptom status and TPV was investigated using logistic regression models. A random sample of 20 patients was examined by 2 observers and reproducibility was assessed using the intraclass correlation coefficient (ICC).
Symptomatic patients were more often female (table) and had significantly higher mean TPV values (figure). In multivariable logistic regression models, TPV was an independent predictor of symptomatic status after correction for PV, LVOT diameter, heart rate and age (odds ratio 1.02 per 1 ms, p &lt; 0.001). The ICC was 0.99 with a mean difference of 0.28 ± 8.5 ms.
Delayed TPV is associated with symptomatic status in HOCM patients, after adjustment for heart rate, peak velocity, LVOT diameter and age, and is an easily measured echocardiographic variable with excellent inter-reader reproducibility. The clinical implications of delayed TPV, particularly in the context risk prediction and clinical decision making, remain to be determined.
Characteristics per group Asymptomatic HOCM patients n = 47 Symptomatic HOCM patients n = 89 p value Age, y 55 ± 14 55 ± 14 0.99 Male gender 34 (72%) 45 (51%) 0.01 Body mass index, kg/m&sup2; 27 ± 5 28 ± 5 0.08 Left atrial diameter, mm 46 ± 7 47 ± 7 0.64 Septal wall thickness, mm 18 ± 4 19 ± 5 0.58 LV outflow tract diameter, mm 22 ± 3 21 ± 3 0.001 Peak velocity, cm/s 403 ± 86 434 ± 79 0.03 LV ejection time, ms 316 ± 44 340 ± 42 0.002 Time to peak velocity, ms 157 ± 32 178 ± 32 &lt;0.001 HOCM = hypertrophic obstructive cardiomyopathy, LV = left ventricular.
Abstract P802 Figure. Time to peak velocity per NYHA class
P825 Multi-modality imaging for noninvasive diagnosis of transthyretin amyloid cardiomyopathy-single centre experience
Authors: Gawor M , Wnuk J , Michalek P , Marczak M , Teresinska A , Grzybowski J 
Published: January 2020

Abstract

Background
Thransthyretin amyloidosis (ATTR) is a rare progressive disease that may present as heart failure with preserved ejection fraction, severe aortic stenosis, hypertrophic cardiomyopathy (HCM) or resctrictive cardiomyopathy. There are two types of ATTR: hereditary ATTR (hATTR) caused by mutations in the TTR gene and wild-type ATTR (wtATTR) resulting from deposition of wild-type TTR protein.

Purpose
We describe the clinical heterogeneity of ATTR patients from our centre diagnosed noninvasively in 2018-2019.

Methods
All patients presented intensive cardiac uptake at 99mTc-DPD scintigraphy. Light chain amyloidosis was excluded.

Results
8 patients were diagnosed with ATTR (Table 1). Three unrelated male patients were diagnosed with hATTR due to rare mutations: 2 of them had Phe33Leu, 1 patient had Glu89Lys mutation. Five
patients (males) were diagnosed with wtATTR. Age of onset differed among the patients. Characteristic clinical features included cardiomyopathy with increased left and right ventricular wall thickness. Only 2 patients had restrictive filling pattern, 3 patients had atrial fibrillation. Laboratory examination showed increased level of troponin T and NT-proBNP. Three patients had bilateral carpal tunnel syndrome. Thanks to DPD-scintygraphy we excluded ATTR in two patients with false-positive results of histological exam for TTR-related amyloid deposits.

Conclusions
Although ATTR is known for its broad clinical spectrum, patients from our center presented mostly as HCM phenocopies but in different stages of heart failure. Appropriate diagnosis of ATTR is crucial and have direct therapeutic impact. Echocardiography raise the suspicion of amyloid cardiomyopathy, while other imaging technique (DPD-scintigraphy) confirm it or exclude it in noninvasive way.
Patient 1 2 3 4 5 6 7 8 Mutation Glu89Lys Phe33Leu Phe33Leu wild type wild type wild type wild type wild type Sex male male male male male male male male Age of onset 57 56 55 77 78 80 77 76 Electrocardiogram AF low QRS voltage low QRS voltage AF, RBBB LVH LVH pseudoinfarct pattern, low QRS voltage AF, LVH Maximal wall thickness [mm] 23 20 18 28 22 23 18 20 LVEF% 45 40 40 60 65 60 45 55 Asymmetric hypertrophy pattern + - - - + + - + NYHA III II II II III II II II NT-proBNP pg/ml 2122 1200 1500 2755 222 2630 2426 hs-Troponin T ng/l 50 98 42 65 35 63 64
Abstract P825 Figure 1
P828 Echocardiographic two-dimensional speckle tracking identifies acute myocardial edema and sub-acute fibrosis in pediatric focal myocarditis with normal ejection fraction: comparison with MRI
Authors: Chinali M , Franceschini A , Ciancarella P , Lisignoli V , Curione D , Ciliberti P , Esposito C , Del Pasqua A , Rinelli G , Secinaro A 
Published: January 2020

Abstract

Aim
To evaluate the ability of Speckle Tracking Echocardiography (STE), as compared to Cardiac Magnetic Resonance (CMR), in identifying acute and sub-acute abnormalities in systolic function occurring with focal myocarditis in children and adolescents without evident wall motion abnormalities. Methods: We analyzed data from 33 consecutive patients (age 4-17year) with CMR-confirmed focal myocarditis and without regional motion abnormalities and/or reduced ejection fraction. Patients underwent echocardiography with analysis of regional and global longitudinal strain and CMR for the identification of focal edema and myocardial fibrosis. Impaired longitudinal strain was defined according to previously reported age-specific reference values. Results: Despite normal ejection fraction at admission, prevalence of impaired systolic function by STE was present in 58% of patients (n = 19). Reduction in longitudinal strain was regionally related to CMR-identified edema areas, with lowest values found at the level of the infero-lateral segments as compared to the mean of the other segments (p &lt; 0.05). Amount of CMR-edema was strongly correlated with impairment of STE (r=-712; p = 0.01). At follow-up, significant improvement in global longitudinal strain could be observed in all patients (p &lt; 0.001) with STE normalization recorded in 13 of 19 patients. Persistent regional impairement in STE could however still be found 6 patients, consistent with residual focal cardiac fibrosis at follow-up CMR. Conclusion: In children and adolescents with focal myocarditis, STE identifies subclinical abnormalities in systolic function, consistent with regional edema at CMR. In addition, analysis of STE provides insights in the identification of regional recovery or persistent systolic impairment, possibly due to residual focal fibrosis.
Abstract P828 Figure.
P830 Atherosclerotic disease in apparently healthy population: is the femoral arterial region the starting point? In search of the origin of the story
Authors: Perea O G , Pulmari C , Morbidoni J , Ontivero J 
Published: January 2020

Abstract

Introduction
Bifurcations are favorable sites for the development of plates.
goals
To know the prevalence and differential characteristics according to the presence of atheroma plaques in the carotid or femoral bifurcation in a population without a cardiovascular history.

Materials and methods
A multicenter, descriptive, cross-sectional, prospective study with consecutive inclusion of 180 individuals who underwent outpatient Doppler echography of neck and lower limb vessels.
SPSS 23 Software was used for the statistical analysis, a value of p &lt;0.05 was considered significant.

Results
In a population of 180 individuals, the presence of atheroma plaques in the carotid bifurcation (BC) was evident, appeared, revelaed in 11 individuals (6.11%), in femoral bifurcation (BF) in 58 individuals (32.2%); and on the other hand coincidentally in both territories in 22 individuals, (12.22%).
The average age in both groups BC and BF was 66, 64 years.
Male sex was more frequent in the individuals of BF group.
The predominant risk factors in both groups were arterial hypertension, dyslipidemia, sedentary lifestyle and obesity.
Smoking, diabetes mellitus and poor diet were more frequent in BF group.
The latter statistically significant.
The age of maximum femoral involvement (64.33 +/- 2.2 years) is prior to the carotid (68.25 +/- 0.5 years),

P
0.003. See table
Both groups had an average moderate risk score according to Interheart.
The individuals of the group who coincidentally had plaques in both bifurcations as significant differential data, had an average risk according to Interheart higher.

Conclusions
The presence of atheroma plaques was observed more frequently and at a younger age at the level of the femoral bifurcation.
Risk factors such as male sex, smoking, diabetes mellitus and poor diet were more frequent in this group.
table Presence of plaques in bifurcation Age less than or equal to 60 years n% Age between 61 and 67 years n% Age between 68 and 73 years n% Age greater than or equal to 74 years N% Carotid n:11 3 27% 1 9% 4 36,4% 3 27% Femoral n:58 12 20,7% 18 31% 14 24,1% 14 24,1% Carotid and femoral n:22 5 27,7% 7 31,8% 5 22,7% 5 22,7% Distributions of plaques
P837 Isolated cleft posterior mitral valve leaflet
Authors: Rodrigo D , Estandia U , Perez C , Perez P M , Panera E 
Published: January 2020

Abstract
A 78-year-old man with a history of hypertension and diabetes mellitus was referred to the ER of our hospital due to an episode of shortness of breath of new onset, associated with dizziness and central thoracic pain of 5 minutes duration. Significant physical examination findings included a V/VI holosystolic murmur at fourth intercostal space with radiation to the axilla. ECG showed no significant abnormalities and cardiac enzymes were within normal ranges The TTE and 3D TOE showed dilated left atrial with normal ventricular size and function with an isolated cleft posterior mitral valve leaflet that bisected into two separate leaflets of identical morphology. Concomitant posterolateral leaflet prolapse was also present with two eccentric, posteriorly, and interatrial septum directed regurgitant jets visualized with colour flow Doppler.
Cleft mitral valve leaflet (CMVL) is an uncommon congenital cause of mitral regurgitation. Clefts are slit-like holes or defects hypothesized to be a result of incomplete expression of an endocardial cushion defect and most commonly involve the anterior mitral valve leaflet with a paediatric incidence of 1:1340. Clefts affecting only the posterior mitral valve leaflet are extremely rare . Important co-existing anomalies with either posterior and/or anterior CMVL include counterclockwise rotation of the papillary muscles, the presence of an accessory papillary muscle or mitral valve leaflet, atrial septal defects, and mitral valve prolapse. Acquired causes of clefts include infective endocarditis or trauma from surgical exploration.
Regurgitation in CMVL results from blood flow directly through the cleft itself or from malcoaptation from accessory chordae with or without papillary muscle distortion. Early detection through 3D TEE echocardiography can provide accurate anatomical images of the mitral valve structure and identify associated congenital anomalies.
Conclusion
Posterior CMVL is an extremely rare cause of mitral insufficiency. 3D TEE early recognition of this rare clinical entity and co-existent anomalies can identify afflicted patients who can be closely monitored for the progression of symptoms as well as ventricular dysfunction. 3D TEE permits a personalized medicine tailoring the medical treatment to the individual characteristics of each patient.
Abstract P837 Figure. Isolated cleft posterior mitral valve
P853 Bilateral lower limb ischemia in a healthy young man what if the heart was hiding the etiology
Authors: Mouadili M , Tamdy A , El Fatmi B , Elkarimi S 
Published: January 2020

Abstract

Cardiac myxoma is the most common benign cardiac tumor with diverse nonspecific clinical manifestations; moreover, atrial myxoma embolization to the peripheral vessels is rare.
A 24-year-old man presented tothe emergency departement complaining ofpain and coldness of his two lower extremities. The right femoral pulse was normally felt while the pulses of the left lower limb from the femoral down to the posterior and anterior tibial arteries were not felt. Bilateral thrombectomy was performed on emergency basisand a fatty-like mass from the left femoral artery was removed. The histological examination of this mass was suggestive of myxoma.So, transthoracic echocardiography was done and confirmed the diagnosis of myxoma that was seen in the left atrium and measuring about 10X6 cm in its maximal dimensions.
Surgical removal of the myxoma was done later and the patient recovered uneventfully.

Conclusion
Although myxomas are rare, they should be considered in the differential diagnosis of peripheral embolic disease, especially when an embolic event occurs in a young adult without evidence of endocarditis or arrhythmia. Echocardiography is the modality of choice for diagnosis and follow-up of this type of tumors.
FIGURE 1: CTA (computed tomography angiography) showing Occlusion of the left popliteal artery and occlusion of the distal part of the right popliteal artery
FIGURE 2: macroscopic view of gelatinous left atrial myxoma
P884 Rare case of primary cardiac lymphoma in immunocompetent patient
Authors: Iqbal Penwala T , Bin Mohamed Yusof A K , Tan L K 
Published: January 2020

Abstract
Primary cardiac lymphoma is a rare tumour especially in immunocompetent person. It is invariably fatal unless diagnosed and treated early. Our patient was a 76 year old Chinese gentlemen, known case diabetes mellitus and hypertension, who presented with 3 months history of failure symptoms. He also had loss of appetite.
His vital signs were stable. There was bibasal crepitation, raised JVP with normal heart sounds and bilateral pedal edema. Chest X-ray showed bilateral pleural effusion.He was admitted for stabilization of heart failure and started on diuretics.
Echocardiography showed the LV ejection fraction was 50% with grade 1 diastolic dysfunction. There was a global pericardial effusion with effusion size 2.52cm maximum at posterior to LV. There was partial RA collapse .Patient was otherwise hemodynamically stable. Patient was observed closely and diuretics continued. Echocardiography on the third day of admission showed a suspicious looking mass in the right atrial (RA) and right ventricular (RV) wall near the AV groove. It become apparent after pericardial effusion became less. Patient was counselled and agreed for pericardial tapping but procedure had to be abandoned as effusion has reduced compared to before (&lt;20mm).
MRI cardiac showed an infiltrating mass around the right atrio-ventricular groove extending to the right ventricular free wall and around the pericardial lining around the ascending aorta and pulmonary trunks. There is inhomogenous signal in STIR with iso-intensity on T1 weighted images. First pass metabolism revealed some vascularity. There was a patchy myocardial enhancement on late gadolinium enhancement. pericardium was thickened with global pericardial effusion- 16mm. Large right pleural effusion seen and minimal left pleural effusion. Mediastinal lymphadenopathy was seen. The finding were suggestive of cardiac lymphoma with differential sarcoma.
Subsequent day, patient develop acute ischemic stroke which was complicated by aspiration pneumonia and septic shock. Fortunately he recovered after 1 week of antibiotics and non-invasive ventilatory support.
FDG PET- CT scan showed FDG-avid primary cardiac lymphoma with pericardial involvement and conglomerate of multiple group of mediastinal and supra clavicular lymph nodes . Bilateral hypermetabolic adrenal nodule were seen but unable to determine its relevance to the primary pathology(lymphoma). No marrow or other organ involvement. Stage is likely IIE.
We were unable to harvest the lymph node because they were too deep. Patient"s family was counselled for cardiac biopsy but family did not want to take the risk as patient was bedridden and fragile. They were also not keen for any chemotherapy or invasive procedure. Once patient was out of infection, they requested to bring back patient to home. He was sent to nursing home for full time care but succumbed to another bout of aspiration pneumonia one week after discharge.
Abstract P884 Figure. Echo, MRI, Pet CT scan
P901 Left ventricular diastolic and systolic functions are compromised in patients with hypothyroidism
Authors: Tafarshiku R , Henein M Y , Berisha-Muharremi V , Bytyci I , Ibrahimi P , Poniku A , Bajraktari G 
Published: January 2020

Abstract

Background and Aim
Long standing hypothyroidism may impair myocardial relaxation, but its effect on systolic myocardial function is still controversial. The aim of this study was to investigate left ventricular (LV) systolic and diastolic function in patients with hypothyroidism.

Methods
This study included 81 (age 42 ± 13 years, 92% female) patients with hypothyroidism, and 22 age and gender matched controls. All subjects underwent a detailed clinical examination followed by a complete biochemical blood analysis including thyroid function assessment and anthropometric parameters measurements. LV function was assessed by 2 dimensional, M-mode and Tissue-Doppler Doppler echocardiographic examination performed in the same day.

Results
Patients had lower waist/hip ratio (p &lt; 0.001), higher urea level (p = 0.002) and lower white blood cells (p = 0.011), compared to controls. All other clinical, biochemical and anthropometric data did not differ between the two groups. Patients had impaired LV diastolic function (lower E wave [p &lt; 0.001], higher A wave [p = 0.028], lower E/A ratio [p &lt; 0.001], longer E wave deceleration time [p = 0.01], and higher E/e’ ratio [p &lt; 0.001]), compared with controls. Although LV global systolic function did not differ between groups, LV longitudinal systolic function was compromised in patients (lateral mitral annular plane systolic excursion - MAPSE [p = 0.005], as were lateral and septal TDI s’ [p &lt; 0.001 for both]).

Conclusion
In patients with hypothyroidism, in addition to compromised LV diastolic function, LV longitudinal systolic function is also impaired compared to healthy subjects of the same age and gender. These findings suggest significant subendocardial function impairment, reflecting potentially micro-circulation disease, that requires optimum management.
P910 Can left ventricular volume and diastolic flow reversal in descending aorta be useful to rule in or rule out severe chronic aortic regurgitation?
Authors: Gao S A , Polte C L , Lagerstrand K M , Bech-Hanssen O 
Published: January 2020

Abstract

Funding Acknowledgements
The study was financed by grants from the Swedish state under the agreement between the Swedish government and the county councils, the ALF¬-agreement

Background and Purpose
Grading severity of chronic aortic regurgitation (AR) by echocardiography may be challenging in cases with few feasible parameters leading to diagnostic uncertainty. The aim of the present study was to transform left ventricular (LV) volume and diastolic flow reversal to quantitative parameters using cardiovascular magnetic resonance (CMR) as reference.

Methods
Patients (n = 120) were recruited either prospectively (n= 45, CMR performed &lt; 4 hours) or retrospectively (n = 75, CMR performed &lt; 21 days (median)). The latter comprised patients with echocardiographic uncertainty. LV end-diastolic volume index (LVEDVI) by Simpson biplane method and end-diastolic flow velocity (EDFV) in the proximal descending aorta were assessed. The patients were randomised to either a derivation (n = 60) or a test group (n = 60).

Results
Severe AR (regurgitant fraction by CMR &gt; 33%) was present in 51% of the patients. In the derivation group, the area under the ROC curves for LVEDVI was 0.80 (95% CI 0.67-0.93) and for EDFV was 0.83 (95% CI 0.71-0.94). LVEDVI &gt; 99 ml/m2 and ≤ 75 ml/m2 were useful to rule in and rule out severe AR, respectively. The corresponding for EDFV were &gt; 17 cm/s and ≤ 10 cm/s. The diagnostic performances of the cut off values in the test group are presented in the Table.

Conclusions
LVEDVI and EDFV are useful quantitative parameters to rule in and rule out severe chronic AR in patients with diagnostic ambiguity. Combination of LVEDVI &gt; 99 ml/m2 and EDFV &gt; 17 cm/s is the most useful to rule in severe AR.
Sensitivity (%) (95% CI) Specificity (%) (95% CI) Positive likelihood ratio (95% CI) Negative likelihood ration (95% CI) Rule in severe AR LVEDVI (&gt; 99 ml/ m2) 48 (29-67) 95 (77-99) 10.0 (1.4-71) 0.55 (0.37-0.82) Rule out severe AR LVEDVI (≤ 75 ml/m2) 91 (73-98) 62 (41-79) 2.4 (1.4-4.2) 0.14 (0.04-0.55) Rule in severe AR EDFV (&gt; 17 cm/s) 44 (28-63) 96 (79-99) 10.2 (1.4-73) 0.58 (0.41-0.82) Rule out severe AR EDFV (≤ 10 cm/s) 96 (82-99) 48 (29-67) 1.9 (1.2-2.8) 0.08 (0.01-0.56) Rule in severe AR &gt; 99 ml/m2 + &gt; 17 cm/s 36 (20-57) 100 (82-100) - 0.64 (0.46-0.87) Rule out severe AR ≤ 75 ml/m2 + ≤ 10 cm/s 91 (72-98) 29 (13-53) 1.3 (0.92-1.8) 0.31 (0.07-1.4)