scholarly journals GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

2019 ◽  
Author(s):  
Ândrea Virgínia Chaves-Markman ◽  
Manuel Markman ◽  
Eveline Barros Calado ◽  
Ricardo Flores Pires ◽  
Marcelo Antônio Oliveira Santos-Veloso ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutation ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
New Variant ◽  
Gla Gene

Delayed-Enhanced Cardiac MRI for Differentiation of Fabry's Disease from Symmetric Hypertrophic Cardiomyopathy

2009 ◽  
Vol 192 (3) ◽  
pp. W97-W102 ◽  
Author(s):  
Francesco De Cobelli ◽  
Antonio Esposito ◽  
Elena Belloni ◽  
Maurizio Pieroni ◽  
Gianluca Perseghin ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Cardiac Mri ◽  
Fabry’S Disease ◽  
Fabry's Disease

scholarly journals Fabry’s disease in cardiological aspect

2020 ◽  
pp. 22-27
Author(s):  
L. D. Khidirova ◽  
A. Kh. Magomedova ◽  
A. A. Vasilenko ◽  
V. S. Dudchenko
Keyword(s):  
Subsequent Development ◽  
Heart Rhythm ◽  
Cardiovascular Complications ◽  
Left Ventricular ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Enzyme Replacement ◽  
Heart Rhythm Disorders ◽  
Lysosomal Accumulation ◽  
Gla Gene

Hereditary genetic X-linked disease Fabry’s disease belongs to the group of lysosomal accumulation diseases and is caused by mutations in the GLA gene and is characterized by a decrease in functional activity or complete absence of the enzyme α-galactosidase A. This pathology belongs to the group of orphan diseases. Mutation of the GLA gene leads to the formation of defective forms of the enzyme α-galactosidase A, which contributes to the violation of the catabolism of glycosphingolipids, their further accumulation in the lysosomes of various cell cultures, and the development of lysosomal cell dysfunction. The prevalence of Fabry disease is about 1 in 117,000 live-born boys. According to screening studies in newborns, this figure can be about 1 in 3,100 and affects to the same extent representatives of all ethnic groups. Fabri’s disease has become actively studied in Russia, but more than 5,000 people (according to estimates) remain undiagnosed. In the first place among the causes of death in Fabry’s disease is heart disease, in particular left ventricular hypertrophy with the subsequent development of diastolic dysfunction and heart failure. Heart rhythm disorders are often observed. Early diagnosis of Fabri disease will lead to the appointment of genotype-specific enzyme replacement therapy and reduce the risk of cardiovascular complications.

Abstract 1121: It’s All in the Family: A Treatable Cause of Late-Onset Hypertrophic Cardiomyopathy

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Ryan P Daly ◽  
E. Rene Rodriguez ◽  
Allan L Klein
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Late Onset ◽  
Sinus Bradycardia ◽  
Nyha Class ◽  
Renal Involvement ◽  
Heart Catheterization ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
History Of ◽  
Alpha Galactosidase

A 73-year-old woman with a history of hypertension (HTN) and mild aortic insufficiency (AI) presented to clinic with progressive dyspnea, fatigue and decreased functional capacity. Her family history was remarkable for a 45-year-old son with a “weak heart” and kidney dysfunction that was being evaluated. Her physical exam was unremarkable with the exception of bradycardia. ECG revealed sinus bradycardia of 46-bpm and a complete RBBB. Transthoracic echo revealed a small cavity with severely increased wall thickness, with obliteration in systole, with no obstruction and mild AI; notably without a history of poorly controlled HTN or significant valvular disease. A right heart catheterization revealed low output failure with a FICK cardiac index of 1.9 L/min-m2. Of note, her son’s work-up revealed Fabry’s disease, with cardiac and renal involvement. Her alpha-galactosidase enzyme levels were low-normal. A cardiac MRI with late gadolinium enhancement revealed a pattern of fibrosis suggestive infiltrative disease, and atypical for HOCM. Endocardial biopsy demonstrated myelin figures with curvilinear bodies in multiple myocytes on ultrastructural examination, diagnostic for cardiac Fabry’s disease. Enzymatic replacement therapy was initiated and a DDD pacemaker was placed with improvement of her NYHA class and BNP level. A treatable disease, representing up to 4% of late-onset hypertrophic cardiomyopathy (HCM), Fabry’s disease should be considered when evaluating patients with non-obstructive HCM. Keys to establishing this diagnosis lay in integrating clinical, genetic, and imaging data and recognizing Fabry’s disease as an X-linked dominant (not recessive) disease that may have isolated cardiac involvement, in heterozygous females, despite low-normal alpha-galactosidase activity.

Fabry's disease

1972 ◽  
Vol 105 (5) ◽  
pp. 774-774
Author(s):  
A. Chaitin
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease

A Case of Fabry's Disease Diagnosed in Adult

2012 ◽  
Vol 74 (3) ◽  
pp. 248-251
Author(s):  
Saori TATEMATSU ◽  
Shinichi IMAFUKU ◽  
Tatsuki MORI ◽  
Kotaro ITO ◽  
Monji KOGA ◽  
...  
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

1990 ◽  
Vol 417 (5) ◽  
pp. 449-455 ◽  
Author(s):  
M. Elleder ◽  
V. Bradová ◽  
F. Smíd ◽  
M. BudĚšínský ◽  
K. Harzer ◽  
...  
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease
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