scholarly journals Anderson-fabry disease: role of traditional and new cardiac MRI techniques

2021 ◽  
pp. 20210020
Author(s):  
Gloria Caredda ◽  
Pier Paolo Bassareo ◽  
Maria Valeria Cherchi ◽  
Gianluca Pontone ◽  
Jasjit S Suri ◽  
...  
Keyword(s):  
Correct Diagnosis ◽  
Left Ventricular ◽  
Myocardial Inflammation ◽  
New Techniques ◽  
Monitoring Therapy ◽  
Appropriate Treatment ◽  
Mapping Analysis ◽  
Gla Gene ◽  
Tissue Alterations

Anderson-Fabry (FD) disease is a rare X-linked disorder caused by different mutations in the Galactosidase α (GLA) gene, which leads to α-galactosidase A enzyme deficiency and the storage of glycosphingolipids in different kinds of organs, included the heart. This results in myocardial inflammation and left ventricular hypertrophy (LVH) and fibrosis. Echocardiography and cardiac magnetic resonance (C-MRI), in particular with new techniques, such as mapping analysis, late gadolinium enhancement (LGE) assessment and strain imaging, are important tools that allow a correct diagnosis, discriminating FD from other hypertrophic heart conditions. C-MRI is able to detect tissue alterations in the early stages of the disease, when an appropriate treatment could be more effective, and it has a fundamental role in monitoring therapy.

The role of inflammation in recent-onset dilated cardiomyopathy

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Chaloupka ◽  
J Krejci ◽  
H Poloczkova ◽  
P Hude ◽  
E Ozabalova ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Left Ventricular ◽  
Pcr Analysis ◽  
Myocardial Inflammation ◽  
Gene Variants ◽  
Absolute Increase ◽  
Recent Onset ◽  
Cardiotropic Viruses

Abstract Background The aetiology of recent-onset dilated cardiomyopathy (RODCM) includes inflammatory, genetic, toxic and metabolic causes. Delineating the role of inflammation on the genetic background could improve risk stratification. Purpose We aimed to ascertain the role of inflammation evaluated by serum CRP immunohistochemical and PCR analysis of endomyocardial biopsy (EMB) in conjunction with genetic testing in left ventricular reverse remodelling (LVRR) in 12-month follow-up. Methods 83 RODCM patients enrolled in this prospective observational study underwent 12-month echocardiographic follow up whole-exome sequencing, and EMB. Presence of cardiotropic viruses was determined by PCR analysis of the EMB samples. Inflammation was defined according to TIMIC immunohistochemical criteria as the presence of >7 CD3+ lymphocytes/mm2 and/or >14 infiltrating leukocytes (LCA+ cells/mm2). LVRR was defined as an absolute increase in LV ejection fraction > +10% and a relative decrease of LV end-diastolic diameter >−10% at 12 months. Results LVRR occurred in 28 (34%) of all cases. PCR analysis uncovered cardiotropic viruses in 55 (66%) patients, with highest prevalence of parvovirus B19 (47%). (Figure 1) EMB analysis detected inflammation in 28 (34%) cases and inflammation significantly positively predicted LVRR (P=0.019). Sequencing identified disease-related gene variants (ACMG class 3–5) in 45 (54%) patients. Carriers of non-titin gene variants showed a lowest probability of 12-month LVRR (19%) P=0.041. Combination of genetic findings and inflammation did not improve the prediction of LVRR in 12 months. (Table 1) Conclusion Both myocardial inflammation and disease-causing variants can be identified in a large proportion of RODCM cases. Prognostic value of CRP and virus detection is low. Non-titin disease-related variants carriers of are less likely to reach LVRR. In contrast, myocardial inflammation detected by EMB predicts favourable remodelling in 12 months. Figure 1 Funding Acknowledgement Type of funding source: None

The role of echocardiography in the diagnosis of aorto-left ventricular tunnel

1994 ◽  
Vol 4 (1) ◽  
pp. 84-86
Author(s):  
Jovan Kosutic
Keyword(s):  
Aortic Regurgitation ◽  
Cardiac Catheterization ◽  
Color Doppler ◽  
Correct Diagnosis ◽  
Left Ventricular ◽  
Cross Sectional ◽  
Echocardiographic Examination

SummaryA case is presented of a 3.5-year-old boy with aorto-left ventricular tunnel. A diagnosis of isolated aortic regurgitation had been made at the age of 11 months following cardiac catheterization with selective left ventricular angiography and aortography. The correct diagnosis was established 2.5 years later following cross-sectional echocardiographic examination combined with color Doppler investigation.

Role of interleukin-6 in cardiac inflammation and dysfunction after burn complicated by sepsis

2007 ◽  
Vol 292 (5) ◽  
pp. H2408-H2416 ◽  
Author(s):  
Hongchao Zhang ◽  
Huan-You Wang ◽  
Rhonda Bassel-Duby ◽  
David L. Maass ◽  
William E. Johnston ◽  
...  
Keyword(s):  
Interleukin 6 ◽  
Total Body Surface Area ◽  
Left Ventricular ◽  
Myocardial Inflammation ◽  
Contractile Dysfunction ◽  
Cardiac Inflammation ◽  
Tnf Α

To examine the role of myocardial interleukin-6 (IL-6) in myocardial inflammation and dysfunction after burn complicated by sepsis, we performed 40% total body surface area contact burn followed by late (7 days) Streptococcus pneumoniae pneumonia sepsis in wild-type (WT) mice, IL-6 knockout (IL-6 KO) mice, and transgenic mice overexpressing IL-6 in the myocardium (TG). Twenty-four hours after sepsis was induced, isolated cardiomyocytes were harvested and cultured in vitro, and supernatant concentrations of IL-6 and tumor necrosis factor (TNF)-α were measured. Cardiomyocyte intracellular calcium ([Ca2+]i) and sodium ([Na+]i) concentrations were also determined. Separate mice in each group underwent in vivo global hemodynamic and cardiac function assessment by cannulation of the carotid artery and insertion of a left ventricular pressure volume conductance catheter. Hearts from these mice were collected for histopathological assessment of inflammatory response, fibrosis, and apoptosis. In the WT group, there was an increase in cardiomyocyte TNF-α, [Ca2+]i, and [Na+]i after burn plus sepsis, along with cardiac contractile dysfunction, inflammation, and apoptosis. These changes were attenuated in the IL-6 KO group but accentuated in the TG group. We conclude myocardial IL-6 mediates cardiac inflammation and contractile dysfunction after burn plus sepsis.

scholarly journals The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A

2015 ◽  
Vol 22 (4) ◽  
pp. 61-65
Author(s):  
A. A. Poliakova ◽  
E. N. Semernin ◽  
A. Ya. Gudkova
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Clinical Course ◽  
Unknown Origin ◽  
Left Ventricular ◽  
Promoter Regions ◽  
North West ◽  
The North ◽  
Alpha Galactosidase ◽  
Gla Gene

The article reflects the importance of timely diagnosis sarcomeric and non sarcomeric hypertrophic cardiomyopathy (HCM). The results of the phenotypic and genotypic screenings aimed at identifying HCM phenocopies and, in particular Fabry disease, in the structure of left ventricular hypertrophy of unknown origin in patients of the North-West region of Russia. We analyzed the influence of polymorphisms in the intronic and promoter regions of the GLA gene on clinical course and the presence of extracardiac manifestations.

LPS pretreatment ameliorates peritonitis-induced myocardial inflammation and dysfunction: role of myocytes

1999 ◽  
Vol 277 (3) ◽  
pp. H885-H892 ◽  
Author(s):  
Remi R. Neviere ◽  
Gediminas Cepinskas ◽  
W. Sean Madorin ◽  
Nina Hoque ◽  
Morris Karmazyn ◽  
...  
Keyword(s):  
Contractile Function ◽  
Leukocyte Adhesion ◽  
Cecal Ligation ◽  
Left Ventricular ◽  
Intercellular Adhesion Molecule ◽  
Myocardial Inflammation ◽  
Intercellular Adhesion Molecule 1 ◽  
Developed Pressure ◽  
Parenchymal Cells

Peritonitis induced by cecal ligation and puncture (CLP) produces a systemic inflammatory response that can be largely mitigated by pretreatment of the animals with lipopolysaccharide (LPS tolerance). Although cells of myeloid origin and endothelial cells have been shown to contribute to the development of LPS tolerance, little is known regarding the potential role of parenchymal cells in this phenomenon. The major aim of the present study was to assess whether cardiac parenchymal cells (myocytes) contribute to the development of LPS tolerance. Six hours after induction of CLP rats were neutropenic and acidotic, the myocardium contained a leukocyte infiltrate [myeloperoxidase (MPO) activity was increased], and myocardial contractile function was impaired (left ventricular developed pressure was decreased). In animals that were pretreated with LPS these manifestations of sepsis were largely reversed. Further studies focused on the responses of cardiac myocytes to CLP and whether myocytes contributed to the development of LPS tolerance. Myocytes were isolated from rat hearts 6 h after induction of CLP. These myocytes 1) exhibited an impaired ability to shorten in response to pacing, 2) contained the nuclear transcription factor NF-κB in their nuclei, 3) increased their surface levels of intercellular adhesion molecule-1 (ICAM-1), and 4) were hyperadhesive for neutrophils. All of these events did not occur in myocytes obtained from animals that were pretreated with LPS before induction of CLP. These findings indicate that LPS tolerance can be induced in myocytes with respect to polymorphonuclear leukocyte adhesion, presumably by an inability of CLP to mobilize NF-κB to the myocyte nuclei and, thereby, preventing an increase in surface levels of ICAM-1.

Prognostic role of Pro-BNP levels in left ventricular hypertrabeculation/non-compaction and neuromuscular disorders: results of a pilot study

2019 ◽  
Vol 67 (3) ◽  
Author(s):  
Norbert Malli ◽  
Nastasia Wilfinger-Lutz ◽  
Walter Krugluger ◽  
Claudia Stöllberger ◽  
Maria Winkler-Dwora K ◽  
...  
Keyword(s):  
Pilot Study ◽  
Neuromuscular Disorders ◽  
Left Ventricular ◽  
Prognostic Role

Update regarding anemia in heart failure

Medic ro ◽  
2020 ◽  
Vol 6 (1) ◽  
pp. 8-13
Author(s):  
Roxana Marcela Sânpălean ◽  
Dorina Nastasia Petra
Keyword(s):  
Heart Failure ◽  
Iron Deficiency ◽  
Multidisciplinary Team ◽  
Significant Proportion ◽  
Life Quality ◽  
Lower Number ◽  
Nutritional Deficiencies ◽  
Cardiac Morbidity ◽  
Appropriate Treatment

Heart failure (HF) is a burden for the healthcare system. The incidence will increase significantly due to the aging of po­pu­la­tion, which is associated with multiple comorbidities. Ane­mia and iron deficiency are common in patients with HF, their etiology being often multifactorial. The screening for anemia and iron deficiency is recommended as soon as pos­si­ble. There are often no targeted investigations, therefore a significant proportion of cases are underdiagnosed. The ma­nagement of patients may focus on identifying and correcting the cause. Anemia can occur due to nutritional deficiencies, infla­m­mation, renal failure, bone marrow dysfunction, neuro­hor­mo­nal activity, treatment and hemodilution. The appropriate the­ra­py for the patients with anemia and HF will contribute to the improvement of life quality. The only recommended iron product is ferric carboxymalose administered by in­tra­venous infusion. Under the appropriate treatment, the pa­tients showed an increase in effort tolerance, with an im­prove­ment in symptomatology and a lower number of hos­pi­ta­li­za­tion days. The management of these cases is handled by a multidisciplinary team consisting of a general prac­ti­tio­ner, a cardiologist and other specialists if the patient has other comorbidities. The role of the general practitioner is essential, as he can perform proper screening, prevention and management, developed by a multidisciplinary team, in order to reduce the cardiac morbidity and mortality.  

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