40 results found
Article
Fabry disease
Fabry disease, also known as Anderson-Fabry disease, is a multisystem disorder resulting from an X-linked inborn error of metabolism and is a lysosomal storage disorder. The disease results from genetic mutations in the gene GLA that cause decreased or absent expression of hydrolase alpha-galact...
Article
Fabry disease (cardiac manifestations)
Fabry disease or Anderson-Fabry disease is the most frequent X-linked lysosomal disorder with cardiac involvement and the isolated ‘cardiac variant’ is next in frequency after the ‘classic phenotype’. Diagnosis of cardiac involvement is important because of the potentially adverse outcome otherw...
Article
Fabry disease (neurological manifestations)
Fabry disease, also known as Anderson-Fabry disease, is a multisystem X-linked lysosomal storage disorder, with frequent neurological manifestations. These are either due to direct involvement of the central nervous system, the peripheral nervous system and/or the autonomic nervous system. This ...
Case
Fabry disease
Published
10 Apr 2023
92% complete
MRI
Case
Fabry disease
Published
08 Mar 2014
68% complete
MRI
Case
Fabry disease
Published
27 Jan 2009
65% complete
MRI
Article
Concentric hypertrophic cardiomyopathy
Concentric or symmetric hypertrophic cardiomyopathy is a morphological variant or phenotype of hypertrophic cardiomyopathy (HCM) characterized by fairly symmetrical or diffuse thickening of the myocardium and a reduction of the left ventricular cavity.
Terminology
The term ‘concentric left ven...
Article
Myocardial mapping
Myocardial mapping or parametric mapping of the heart is one of various magnetic resonance imaging techniques, which has evolved and been increasingly used in the last decade for non-invasive tissue characterization of the myocardium 1-5. Unlike normal T1-, T2- or T2*- images, parametric mapping...
Article
Acroparesthesia
Acroparesthesia refers to tingling, pins-and-needles, burning or numbness or stiffness in the hands and feet, particularly the fingers and toes 1. Occasionally episodic pain is also present, which can be very severe 1.
It is one of the more common manifestations of Fabry disease (more common t...
Article
Pulvinar sign (CNS)
The pulvinar sign refers to bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. It is classically described in variant Creutzfeldt-Jakob disease. It is also described in other neurological conditions:
Fabry disease: the hyperintense signal is seen on T1 rather than T2
bila...
Article
Asymmetric hypertrophic cardiomyopathy
Asymmetric hypertrophic cardiomyopathy is the most common morphological variant or phenotype of hypertrophic cardiomyopathy (HCM).
Epidemiology
Approximately 60-70% of cases with hypertrophic cardiomyopathy make up for the asymmetric phenotype 1-3.
Associations
Asymmetric hypertrophic cardio...
Article
Tricuspid valve stenosis
Tricuspid valve stenosis is a valvulopathy that describes narrowing of the opening of the tricuspid valve between the right ventricle and the right atrium.
Epidemiology
MS is seen more commonly in women and in countries, generally developing nations, where rheumatic fever is common 1,2.
Clini...
Article
Hypertensive heart disease
Hypertensive heart disease (HHD) refers to a condition covering morphological and physiological changes of the heart, the coronary arteries and the aorta.
Epidemiology
Over 1.1 billion people worldwide, one-fourth of all men and one-fifth of all women suffer from hypertension and the condition...
Article
Valvular heart disease
Valvular heart diseases, or cardiac valvulopathies, describe any acquired or congenital disease affecting one or more of the four cardiac valves.
This is a general index article that classifies cardiac valvulopathies depending on which valve(s) is affected 1. See individual articles for in-dept...
Article
Vascular dementia
Vascular dementia, also known as vascular cognitive impairment, is the second most common cause of dementia after the far more common Alzheimer disease. It is primarily seen in patients with atherosclerosis and chronic hypertension and results from the accumulation of multiple white matter lesio...
Article
Lysosomal storage disorders
Lysosomal storage disorders (LSDs) form a large group of clinical entities, more than forty now described, with the common etiological theme being the presence of dysfunctional lysosomal proteins, with the secondary accumulation of toxic metabolites inside the cellular lysosomes.
Epidemiology
...
Article
Cardiomyopathy (WHO/ISFC 1995 classification)
Cardiomyopathy classification separates the various cardiomyopathies into several subtypes. Cardiomyopathy is defined as a "disease of the myocardium with associated cardiac dysfunction".
It was initially classified according to the 1995 World Health Organizatiοn / International Society and Fed...
Article
Restrictive cardiomyopathy
Restrictive cardiomyopathy is the least common subtype of cardiomyopathy and is characterized by a marked decrease in ventricular compliance.
Clinical presentation
Patients can present with symptoms and signs of left ventricular failure and/or right ventricular failure 9.
Pathology
It is p...
Article
Left ventricular hypertrophy
Left ventricular hypertrophy (LVH) is present when the left ventricular mass is increased. It is a common condition, typically due to systemic hypertension, and it increases with age, obesity and severity of hypertension.
Epidemiology
Studies have demonstrated a prevalence on echocardiography ...
Article
Late gadolinium enhancement
Late gadolinium enhancement is a technique used in cardiac MRI for cardiac tissue characterization, in particular, the assessment of myocardial scar formation and regional myocardial fibrosis 1-5.
Terminology
Late gadolinium enhancement is also known under the terms ‘late enhancement’ or ‘dela...
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