scholarly journals Prevalence of cardiac amyloidosis in patients with unexplained left ventricle hypertrophy

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
K Holcman ◽  
M Kostkiewicz ◽  
W Szot ◽  
A Lesniak-Sobelga ◽  
M Hlawaty ◽  
...  
Keyword(s):  
Family History ◽  
Left Ventricle ◽  
Male Patient ◽  
Wall Thickness ◽  
Light Chain ◽  
Emission Computed Tomography ◽  
Gene Variants ◽  
Single Male ◽  
Maximum Wall Thickness ◽  
Number Of Patients

Abstract Background Amyloid cardiomyopathy (CA) it is more frequently diagnosed due to rapidly developing imaging modalities. Misfolding of transthyretin (TTR) is the source of two distinct forms of amyloidosis (ATTR): acquired wild-type (ATTRwt) and hereditary (ATTRm). Types of TTR gene variants display genetic and ethnic variability. The aim of this prospective study was to assess the prevalence and types of pathogenic genetic variants associated with ATTRm amyloidosis in patients with unexplained left ventricle (LV) hypertrophy. Methods We evaluated prospectively 101 consecutive patients (37 (37%) females, age: 69.7±13.6 y.o.) in years 2016–2021. Analysis included clinical data, free light chain blood immunoglobulins and urine immunofixation, transthoracic echocardiography (TTE), single-photon emission computed tomography (SPECT) with 3,3-disphono-1,2-propanodicarboxylic acid (DPD), and in selected cases cardiac or soft tissue biopsy. Patients with DPD cardiac uptake in SPECT or positive histopathology or family history of ATTR were subjected to genetic testing by an amplicon-based next-generation TTR sequencing approach. Results Enrolled patients presented with marked LV hypertrophy with maximum wall thickness of 18.9±4 mm. Based on performed tests 34 patients (33.7%) were diagnosed with amyloidosis, including 17 cases of light-chain amyloidosis (AL), 16 of ATTR, and 1 case of other type of amyloidosis. Overall, patients with CA presented with mean 2.6±0.9 NYHA class. In TTE there was LV maximum wall thickness of 19.5±4 mm and LV mass value index value of 182±48 g/m2, decreased global longitudinal strain value (GLS, −14.1±5%) and advanced diastolic dysfunction (EA 2.2±1.1, E/E' 22±9). Overall, there were 8 cases of ATTRwt and eight patients were diagnosed ATTRm. There were detected following types of TTR variants - c.302C>T p.(Ala101Val) in a single male patient, c.325G>A p.(Glu109Lys) in a single male patient and c.157T>C p.(Phe53Leu) in six patients. Overall, 10 patients with ATTR presented with polyneuropathy, additionally six had diagnosed carpal tunnel syndrome. All patients with ATTRm had positive family history for CA. Conclusions In patients with unexpected LV hypertrophy evaluated in a cardiology referral center a high number of patients may suffer from underlying CA. Types of detected TTR gene variants associated with CA included most often Phe53Leu, and rare variants Ala101Val, Glu109Lys. FUNDunding Acknowledgement Type of funding sources: None.

The Effectiveness of Behaviour Therapy in Writer’s Cramp: A Case Report

2016 ◽  
Vol 3 (2) ◽  
Author(s):  
Mahesh M M ◽  
Dr. Johnson Alex
Keyword(s):  
Mental Illness ◽  
Case Report ◽  
Family History ◽  
Male Patient ◽  
Motor Nerve ◽  
Conclusive Evidence ◽  
Behaviour Therapy ◽  
Present Treatment ◽  
Writer’S Cramp ◽  
Writer's Cramp

42 years old male patient referred from neurology department, working as a teacher, educated up to MSc, premorbidly anxious personality, family history mental illness (first degree relatives), comes from MSES with presenting complaints of difficulty in writing or copying since seven years. Disability progressed and he was unable to write even a few words legibly and could not hold object which leads to anxiety and dependency. When the patient was examined at Neurology OPD, find out that he has normal sensory and motor nerve functions. The present treatment involved the use of Bahaviour therapy. The findings in this case is very encouraging and studies with large sample sizes can be considered for further conclusive evidence on the treatment of writer’s cramp.

Hereditary Cancer Gene Variants in Hispanic Men with a Personal or Family History of Prostate Cancer

2022 ◽  
Author(s):  
Chethan Ramamurthy ◽  
Eric W. Stutz ◽  
Martin Goros ◽  
Jonathan Gelfond ◽  
Teresa L. Johnson-Pais ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
Hereditary Cancer ◽  
Gene Variants ◽  
Cancer Gene ◽  
Hispanic Men ◽  
History Of

Regression of cardiac wall thickness following chemotherapy and stem cell transplantation for light chain (AL) amyloidosis

Amyloid ◽  
2011 ◽  
Vol 18 (sup1) ◽  
pp. 130-131 ◽  
Author(s):  
H. K. Meier-Ewert ◽  
V. Sanchorawala ◽  
J. Berk ◽  
K. T. Finn ◽  
M. Skinner ◽  
...  
Keyword(s):  
Stem Cell ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Wall Thickness ◽  
Light Chain ◽  
Al Amyloidosis ◽  
Cardiac Wall

scholarly journals P216 Cardiac amyloidosis is not a single disease: an echocardiographic study of light chain vs transthyretin forms

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
R D Adam ◽  
A Jercan ◽  
S Badelita ◽  
D Coriu ◽  
C Stan ◽  
...  
Keyword(s):  
Wall Thickness ◽  
Light Chain ◽  
Cardiac Dysfunction ◽  
Cardiac Amyloidosis ◽  
Gene Sequencing ◽  
Roc Curves ◽  
Pericardial Fluid ◽  
Cardiac Biomarkers ◽  
Systolic Strain ◽  
Echocardiographic Study

Abstract Background Cardiac amyloidosis (CA) is described as one entity. However, several subtypes of amyloid can infiltrate the heart: light chain (AL) and tranthyretin (ATTR) are the most common. Purpose To characterize the specific findings of the CA subtypes as a tool to aid differential diagnosis between AL and ATTR CA. Material and methods: Consecutive patients with CA were evaluated by clinical examination, ECG, cardiac biomarkers and echocardiography with both conventional and myocardial deformation study of the left ventricle (LV), left atrium (LA) and right ventricle (RV). Amyloid subtype was described using light chain assessment for AL-CA and 99Tc-HMPD scintigraphy and TTR gene sequencing for ATTR-CA. Results 32 patients with CA were included, 13 with ATTR and 19 with AL. Patients in AL group were significantly older, with higher levels of cardiac biomarkers. At similar LV EF and wall thickness, they had lower GLS. LA function parameters were also lower in AL pts (table). Using ROC curves, the best predictors for AL diagnosis were NTproBNP (AUC 0.937) and Tn levels (AUC 0.958), as well as LV GLS and pericardial fluid presence (both AUC 0.750). Conclusions At similar LV wall thickness and ejection fraction, cardiac dysfunction appears to be more severe in AL pts, with lower global LV longitudinal strain, worse LA function, higher sPAP and NTproBNP. ATTR (13 pts) AL (19 pts) p Age (years) 50 ± 12 60 ± 8 0.01 NTproBNP (pg/mL) 3066 ± 3720 11755 ± 9114 0.02 hsTnI (ng/mL) 0.005 ± 0.008 0.147 ± 0.161 0.04 Pericardial fluid (%) 53% 100% 0.002 LVEDV (mL) 88 ± 25 75 ± 38 NS LVMi (g/m2) 166 ± 47 168 ± 41 NS LVEF (%) 50 ± 8 49 ± 16 NS LV GLS (%) -12.1 ± 3.8 -8.9 ± 4.5 0.04 Septal Basal/Apical LS 0.33 ± 0.17 0.25 ± 0.27 NS LAVi (mL/m2) 46 ± 21 45 ± 14 NS LAEF 4CV (%) 35 ± 21 24 ± 8 0.05 LA systolic strain (%) 17.4 ± 11.9 10.5 ± 5.0 0.02 RV free wall thickness (mm) 7.0 ± 1.5 7.6 ± 1.4 NS RV 6-segments strain (%) -15 ± 4 -10 ± 8 0.09 sPAP (mmHg) 36.6 ± 12.0 48.6 ± 17.2 0.04

scholarly journals P955 left ventricle cardiac remodeling among lithuanian football versus basketball players

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
A Aldujeli ◽  
J Laukaitiene ◽  
R Unikas
Keyword(s):  
Left Ventricle ◽  
Wall Thickness ◽  
Cardiac Remodeling ◽  
Interventricular Septum ◽  
Posterior Wall ◽  
Left Ventricular ◽  
Relative Wall Thickness ◽  
Football Players ◽  
Basketball Players ◽  
Lv Mass

Abstract Background Regular physical exercise causes a continuous gradual increase of the cardiac left ventricular (LV) mass known as physiological adaptive hypertrophy. The extent of LV remodeling depends on the type, amount, and intensity of the exercise. Purpose The aim of this study was to compare structural changes of the heart among Lithuanian football, basketball players and unathletic controls. Methods A total of 50 Lithuanian males aged between 20-29 years volunteered to participate in the study. Football players (n = 15) playing for local II league football clubs,and Basketball players (n = 15) playing for local minor league basketball teams. All athletes had been regularly engaged in their sport for at least three years. Inactive healthy volunteers (n = 20) of similar age served as controls. Routine transthoracic echocardiographic examinations to measure end-diastolic LV dimensions were performed by cardiology fellow under the supervision of a fully licensed cardiologist. Statistical analyses were performed using the SPSS 20.0 software. The value of p < 0,05 was considered as statistically significant. Results No structural or functional pathologies were evident during the echocardiographic examination in any of the subjects. Absolute interventricular septum (IVS) thickness and LV posterior wall thickness, but not LV diameter, were higher in athletes than in inactive controls (P < 0,001). Indexed LV diameter was higher in football players as compared with non-athlete controls and basketball players (P < 0,05). Left ventricular mass of all athletes were higher as compared with controls (p < 0.001). Relative wall thickness was not increased in football players but was higher in basketball players as compared with controls (p < 0.05). Conclusion Cardiac remodeling in Lithuanian football players resulted in left ventricle eccentric hypertrophy due to the LV dilation, increased LV mass and relatively normal relative wall thickness. However in Lithuanian basketball players we noticed an increase in both relative wall thickness and LV mass resulting in LV concentric hypertrophy. Echocardiographic characteristics Groups n End-diastolic LV diameter(mm) End-diastolic Interventricular septum (mm) End-diastolic LV posterior wall LV mass Football Players 15 56.9 10.8 10.8 242 Basketball players 15 53.6 11.5 11.3 254 Inactive individuals 20 53.2 9.1 9.5 182 P value 0.01 <0.001 <0.001 <0.01 Abstract P955 Figure.

scholarly journals Frequency of AIP Gene Mutations in Young Patients With Acromegaly: A Registry-Based Study

2014 ◽  
Vol 99 (12) ◽  
pp. E2789-E2793 ◽  
Author(s):  
Christof Schöfl ◽  
Jürgen Honegger ◽  
Michael Droste ◽  
Martin Grussendorf ◽  
Reinhard Finke ◽  
...  
Keyword(s):  
Family History ◽  
Direct Sequencing ◽  
Positive Family History ◽  
Young Patients ◽  
Gene Mutations ◽  
Interacting Protein ◽  
Aryl Hydrocarbon ◽  
Number Of Patients ◽  
The Individual ◽  
Aip Gene

Context: Familial and sporadic GH-secreting pituitary adenomas are associated with mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. Patients with an AIP mutation (AIPmut) tend to have more aggressive tumors occurring at a younger age. Objective: The objective of the study was to investigate the frequency of AIPmut in patients diagnosed at 30 years of age or younger. Design: The German Acromegaly Registry database (1795 patients in 58 centers) was screened for patients diagnosed with acromegaly at 30 years of age or younger (329 patients). Sixteen centers participated and 91 patients consented to AIPmut analysis. Intervention: DNA was analyzed by direct sequencing and multiplex ligation dependent probe amplification Main outcome Measures: The number of patients with AIPmut was measured. Results: Five patients had either a mutation (c.490C>T, c.844C>T, and c.911G>A, three males) or gross deletions of exons 1 and 2 of the AIP gene (n = 2, one female). The overall frequency of an AIPmut was 5.5%, and 2.3% or 2.4% in patients with an apparently sporadic adenoma or macroadenoma, respectively. By contrast, three of four patients (75%) with a positive family history were tested positive for an AIPmut. Except for a positive family history, there were no significant differences between patients with and without an AIPmut. Conclusions: The frequency of AIPmut in this registry-based cohort of young patients with acromegaly is lower than previously reported. Patients with a positive family history should be tested for an AIPmut, whereas young patients without an apparent family history should be screened, depending on the individual cost to benefit ratio.

Sign in / Sign up

Export Citation Format

Share Document