scholarly journals High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME)

2021 ◽  
Vol 10 (10) ◽  
pp. 2160
Author(s):  
Yiting Fan ◽  
Tsz-Ngai Chan ◽  
Josie T. Y. Chow ◽  
Kevin K. H. Kam ◽  
Wai-Kin Chi ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Ventricular Hypertrophy ◽  
Late Onset ◽  
Posterior Wall ◽  
Left Ventricular ◽  
Chinese Patients ◽  
Uncontrolled Hypertension ◽  
Alpha Galactosidase ◽  
Gla Gene ◽  
Valve Pathology

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Patients with low enzyme activity underwent mutation analysis of the GLA gene. Eight (age = 53−74 years; all men) unrelated patients (1.6%) had low plasma alpha-galactosidase A activity (0.57 ± 0.27 μmol/L wb/hr) and all were confirmed to have the GLA IVS4 + 919G > A mutation. FD patients presented with heart failure (n = 5), heart block (n = 2), ventricular tachycardia (n = 1), chest pain (n = 3), and/or murmur (n = 1). Uncontrolled hypertension (n = 4) and/or severe mitral/aortic valve pathology (n = 2) were frequent. Ethnic subgroups included Teochew (n = 5), Canton (n = 2), and Wenzhou (n = 1). Endomyocardial biopsy (n = 6) revealed hypertrophic myocytes with vacuolization and dense lamellar bodies. Late-onset IVS4 + 919G > A FD is prevalent among Chinese LVH patients, and should be considered as a cause of LVH in adult patients even when hypertension and/or valve pathology are present.

scholarly journals Left ventricular geometric patterns and cardiac function in patients with chronic renal failure undergoing hemodialysis

2005 ◽  
Vol 64 (1) ◽  
Author(s):  
Maria Teresa Manes ◽  
Manlio Gagliardi ◽  
Gianfranco Misuraca ◽  
Stefania Rossi ◽  
Mario Chiatto
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Diastolic Dysfunction ◽  
Cardiac Troponin ◽  
Ventricular Hypertrophy ◽  
Interventricular Septum ◽  
Myocardial Damage ◽  
Posterior Wall ◽  
Left Ventricular ◽  
Posterior Wall Thickness ◽  
Significant Difference

The aim of this study was to estimate the impact and prevalence of left ventricular geometric alterations and systolic and diastolic dysfunction in hemodialysis patients, as well as the relationship with cardiac troponin as a marker of myocardial damage. Methods: 31 patients (pts), 19 males and 12 females, age 58.1±16.4 (26 on hemodialysis, 5 on peritoneal dialysis) and 31 healthy normal controls were enrolled. Echocardiography measurements were carried out according to the American Society of Echocardiography recommendations. Left ventricular mass was calculated, according to the Devereux formula and indexed to height and weight 2.7. Doppler echocardiography was performed to study diastolic function by measurements of isovolumetric relaxation period (IVRT), E wave deceleretion time (DTE) and E/A ratio. Cardiac troponin was measured by a third generation electrochemiluminescence immunoassay. Statistical analysis was performed using the t-test for between-group comparisons and the Pearson and Spearman’s tests to investigate correlations; p values of <0.05 were considered statistically significant. Results: Eccentric hypertrophy was the most frequent pattern (n=17; 55%), followed by normal cardiac geometry (n=7; 23%), and concentric hypertrophy (n=5; 16%). Only 6% of pts (n=2) showed concentric remodelling. Systolic dysfunction was present in terms of endocardial parameters in 3 pts (9%) (fractional shartening <25%, EF<50%), but in terms of midwall myocardial shortening in 51% (n=16). Diastolic dysfunction was present in 87% (n=27) with a pattern of impaired relaxation (in 5 without left ventricular hypertrophy). E/A was negatively correlated with age (r=-0.41, p=0.02); DTE was positively correlated with posterior wall thickness (r=0.36, p=0.05) and interventricular septum thickness (r=0.45, p=0.01); cardiac troponin was positively correlated with age (r=0.50, p=0.00), left ventricular mass (r=0.41, p=0.02), posterior wall thickness (r=0.41; p=0.02) and interventricular septum thickness (r=0.39, p=0.03) but not with diastolic dysfunction parameters. No significant difference was found in terms of duration of dialysis between patients with normal left ventricular geometry and those with left ventricular hypertrophy, but a significant difference in age was found (p=0.03). Pts with diastolic dysfunction had more frequent hypotensive episodes during dialysis (p <0.01). Conclusion: Impaired geometry and cardiac function is frequently observed in pts undergoing hemodialysis. Diastolic dysfuction is associated to a geometric pattern of left ventricular hypetrophy, although it can be an isolated initial manifestation of myocardial damage. Depressed midwall myocardial shortening can discriminate left ventricular dysfunction better than traditional endocardial systolic indexes.

scholarly journals Evaluation of left ventricular hypertrophy in hypertensive patients with echocardiographic myocardial videodensitometry normalized by displacement

2010 ◽  
Vol 10 (4) ◽  
pp. 292-296 ◽  
Author(s):  
Xiao-Zhi Zheng ◽  
Lian-Fang Du ◽  
Hui-Ping Wang
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Ventricular Hypertrophy ◽  
Accurate Determination ◽  
Normal Subjects ◽  
Posterior Wall ◽  
Left Ventricular ◽  
Hypertensive Patients ◽  
Tissue Tracking ◽  
Cardiovascular Morbidity And Mortality

Left ventricular hypertrophy (LVH) is an important predictor of cardiovascular morbidity and mortality. To investigate the feasibility of the myocardial grayscale intensity (GI) normalized by displacement (d) to discriminate between healthy and hypertrophic myocardium in hypertensive patients, sixty hypertensive patients and sixty age and sex-matched healthy volunteers were involved in this study. The peak d and the maximal GI [GI(max)] and minimal GI [GI(min)] for the middle interventricular septal (IVS) and the middle posterior wall (PW) at the level of papillary muscle were obtained from the standard parasternal long axis views using tissue tracking (TT) and videodensitometric analysis, respectively. The GI and the cyclic variation of GI (CVGI) normalized by d were calculated. The results showed that the d both for IVS and PW the amplitude of CVGI for IVS in hypertensive patients with LVH were smaller than the ones without LVH and the normal subjects. But, the CVGI/d both for IVS and PW in hypertensive patients with LVH were all greater than the ones without LVH and the normal subjects. Moreover, the parameter, CVGI/d correlated positively with left ventricular mass index (LVMI). So, the method employed in this study, videodensitometric analysis in combination with TT allow objective and accurate determination of LVH and CVGI/d is a sensitive indicator for hypertensive patients with LVH.

p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease

Cardiology ◽  
2019 ◽  
Vol 144 (3-4) ◽  
pp. 125-130 ◽  
Author(s):  
Daniela Marisa Carvalho Silva ◽  
Nuno Marques ◽  
Olga Azevedo ◽  
Gabriel Miltenberger-Miltenyi ◽  
Dina Bento ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Gene Variants ◽  
Fabry Patient ◽  
Enzyme Replacement ◽  
Disease Awareness ◽  
Classic Phenotype ◽  
Gla Gene

The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.

Effect of Blood Pressure Control on Left Ventricular Hypertrophy in Patients with Essential Hypertension

1980 ◽  
Vol 59 (s6) ◽  
pp. 441s-443s ◽  
Author(s):  
F. G. Dunn ◽  
B. Bastian ◽  
T. D. V. Lawrie ◽  
A. R. Lorimer
Keyword(s):  
Blood Pressure ◽  
Left Ventricular Hypertrophy ◽  
Blood Pressure Control ◽  
Wall Thickness ◽  
Ventricular Hypertrophy ◽  
Posterior Wall ◽  
Pressure Control ◽  
Left Ventricular ◽  
Posterior Wall Thickness ◽  
Group 2

1. Changes in left ventricular structure and function were assessed by echocardiography in 22 patients before and after 9 months blood pressure control. 2. Nine patients had normal baseline echocardiograms (group 1) and 13 had echocardiographic evidence of left ventricular hypertrophy (group 2). 3. Group 2 patients demonstrated significant reductions in posterior wall thickness (P<0.01), septal wall thickness (P<0.025) and left ventricular mass (P<0.005). Only six of the 13 patients showed a reduction of ≥3 mm in posterior wall thickness. The remainder showed no alteration or only a slight non-significant reduction. 4. The regression of voltage in some patients but not in others did not appear to be related to initial blood pressure, the extent of the fall in blood pressure or duration of follow-up. It was not possible to say whether any specific therapy was beneficial to regression since most of the patients were on multiple therapy.

Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease

Cardiology ◽  
2017 ◽  
Vol 137 (2) ◽  
pp. 67-73 ◽  
Author(s):  
Olga Azevedo ◽  
Miguel Gago ◽  
Gabriel Miltenberger-Miltenyi ◽  
Paulo Gaspar ◽  
Nuno Sousa ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Nonsense Mutation ◽  
Ventricular Hypertrophy ◽  
Large Family ◽  
Disease Diagnosis ◽  
Left Ventricular ◽  
The Novel ◽  
Complete Evaluation ◽  
Gla Gene

We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family.

scholarly journals Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
K. Selthofer-Relatic
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Heart Surgery ◽  
Late Onset ◽  
Cardiac Pacemaker ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Family Screening

Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Aim. To describe different cardiac manifestations at different time points in the course of the disease: (1) 72-year-old female (echocardiography detection), heterozygote, significant left and mild right ventricular hypertrophy; (2) 62-year-old male (echocardiography detection), hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3) 45-year-old female (asymptomatic/family screening), heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4) 75-year-old female (symptomatic/family screening), heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve). Conclusion. All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients’ profiles unique and delay the time of detection.

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