scholarly journals Family form of dilated cardiomyopathy

Author(s):  
D. I. Sadykova ◽  
T. P. Makarova ◽  
D. R. Sabirova ◽  
N. N. Firsova ◽  
A. A. Kucheryavaya ◽  
...  

Cardiomyopathy (CMP) is classified into familial and non-familial, which reflects the need to study the genetic basis of the disease. The article describes a clinical case of a familial form of non-compact cardiomyopathy in combination with a dilated form of cardiomyopathy. The article provides data of echocardiographic and MRI studies. The diagnosis was confirmed by genetic research, there was revealed a mutation in the MYH7 gene p.IIe201Thr in a heterozygous state, which is associated with the development of non-compact cardiomyopathy and dilated form of cardiomyopathy.

2015 ◽  
Vol 2015 ◽  
pp. 1-13 ◽  
Author(s):  
Siobhan Simpson ◽  
Jennifer Edwards ◽  
Thomas F. N. Ferguson-Mignan ◽  
Malcolm Cobb ◽  
Nigel P. Mongan ◽  
...  

Cardiovascular disease is a leading cause of death in both humans and dogs. Dilated cardiomyopathy (DCM) accounts for a large number of these cases, reported to be the third most common form of cardiac disease in humans and the second most common in dogs. In human studies of DCM there are more than 50 genetic loci associated with the disease. Despite canine DCM having similar disease progression to human DCM studies into the genetic basis of canine DCM lag far behind those of human DCM. In this review the aetiology, epidemiology, and clinical characteristics of canine DCM are examined, along with highlighting possible different subtypes of canine DCM and their potential relevance to human DCM. Finally the current position of genetic research into canine and human DCM, including the genetic loci, is identified and the reasons many studies may have failed to find a genetic association with canine DCM are reviewed.


Author(s):  
Terence D. Keel

The proliferation of studies declaring that there is a genetic basis to health disparities and behavioral differences across the so-called races has encouraged the opponents of social constructionism to assert a victory for scientific progress over political correctness. I am not concerned in this essay with providing a response to critics who believe races are expressions of innate genetic or biological differences. Instead, I am interested in how genetic research on human differences has divided social constructionists over whether the race concept in science can be used for social justice and redressing embodied forms of discrimination. On one side, there is the position that race is an inherently flawed concept and that its continued use by scientists, medical professionals, and even social activists keeps alive the notion that it has a biological basis. On the other side of this debate are those who maintain a social constructionist position yet argue that not all instances of race in science stem from discriminatory politics or the desire to prove that humans belong to discrete biological units that can then be classified as superior or inferior. I would like to shift this debate away from the question of whether race is real and move instead toward thinking about the intellectual commitments necessary for science to expose past legacies of discrimination.


Author(s):  
Tetiana Pohuliaieva

For the fi rst time in Ukraine, was explored the eff ect of pregnancy, childbirth and the postpartum period on the further course of multiple sclerosis (MS) in sporadic and family forms of women giving birth at the preclinical stage (group 1) and against the background of the disease (group 2). Through the use of questioning method and clinical and neurological examination the following phenomena were studied. Namely, premonitory history; features of the course of the disease; the duration between labor and development of the onset of the illness in women of the 1st group and between the onset and labor in women of the 2nd group; obstetric and gynecological history; the eff ect of pregnancy and childbirth on the further course of MS. A total of 82 women were examined, 51 of them were giving birth at preclinical stage (group 1) and 31 — against the background of MS (group 2). In the 1st group with remitting course (RC), 26 women had a sporadic form and 5 — a family form; with progressive course (PC) — in 14 — sporadic and in 6 — family form. In the 2nd group with RC, 23 women had sporadic and 1 family form; with PC — 6 had sporadic and 1 family. Research has shown, the disease of majority of women from the first group has been developed after childbirth. Women from the second group with RC were giving birth most often after 5—10 years of the disease onset; with PC — after more than 10 years. According to the obstetric and gynecological history, differences were obtained during pregnancy, childbirth and the postpartum period between two groups of women with different types of course. An assessment of the effects of pregnancy, childbirth and the postpartum period of women from the 2nd group made it possible to identify criteria for various options for the further course of MS (such as improvement, stabilization, improvement through worsening, worsening), which are closely interrelated with the types of course of the disease. To sum up, an integrated analysis of the above mentioned outcome shows a positive eff ect of pregnancy and childbirth in the vast majority of women with RC and a high incidence of decline of women with PC. Key words: multiple sclerosis, types of course, sporadic and familial form, pregnancy and childbirth, obstetric and gynecological history, complications during pregnancy and childbirth


2018 ◽  
Vol 96 (3) ◽  
pp. 273-276
Author(s):  
N. A. Kosheleva ◽  
Elena Yu. Ponomareva ◽  
D. S. Sedov

The presented clinical case describes the development of diffuse myocarditis in a 31-year-old man with the outcome of dilated cardiomyopathy and terminal chronic heart failure, resistant to drug therapy that required heart transplantation. Discussed aspects of diagnosis, clinical manifestations, tactics of patient management and indications for heart transplantation.


2016 ◽  
Vol 224 ◽  
pp. 461-472 ◽  
Author(s):  
Alexandra Pérez-Serra ◽  
Rocio Toro ◽  
Georgia Sarquella-Brugada ◽  
David de Gonzalo-Calvo ◽  
Sergi Cesar ◽  
...  

2016 ◽  
Vol 35 (5) ◽  
pp. 625-635 ◽  
Author(s):  
Sofia Cuenca ◽  
Maria J. Ruiz-Cano ◽  
Juan Ramón Gimeno-Blanes ◽  
Alfonso Jurado ◽  
Clara Salas ◽  
...  

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
Z Y Vasquez-Ortiz ◽  
R Gonzalez-Varela ◽  
J Navarrete Garcia ◽  
P Hernandez-Reyes ◽  
J Oseguera Moguel

Abstract Introduction Peripartum cardiomyopathy (MPP) is a type of cardiomyopathy characterized by heart failure secondary to left ventricular systolic dysfunction during the last month of pregnancy or in the first 5 months of puerperium without other apparent etiology, being a diagnosis of exclusion. The left ventricle is not always dilated, but the fraction of left ventricular ejection is always less than 45%. The natural history and prognosis of the disease is diverse. Ventricular dysfunction is usually transient and normalizes at 3-6 months in up to 60% of cases. Mortality is variable, with reports ranging from 0 to 28%, affecting more certain ethnic groups, in patients with persistent ventricular dysfunction, evidence of the efficacy of a specific treatment beyond optimal medical therapy for heart failure is limited. Clinical case We present the clinical case of a 22-year-old woman, who was referred to the our institute with an acute heart failure syndrome two months after the end of her first pregnancy. On admission to the hospital, dilated cardiomyopathy and intracavitary thrombi were documented by transthoracic echocardiography (TTE) with dilatation and eccentric left ventricular hypertrophy, generalized hypokinesia and mobile thrombi inside, the largest of 34x16mm with severe left ventricular dysfunction 3D LVEF of 28% and global longitudinal strain (GLS) of -5.8%, pulmonary hypertension and right ventricular dysfunction with severe functional tricuspid regurgitation. Other specific etiologies of dilated cardiomyopathy were investigated and discarded, finally establishing the diagnosis of peripartum cardiomyopathy. The support management was carried with inotropic, diuretic, supplemental oxygen and parenteral anticoagulation was initiated, with gradual improvement. Subsequently, optimal medical treatment was started for heart failure, cabergoline and vitamin K antagonist. He was released to his home on II NYHA. Two months later she presented with progressive dyspnea, increased abdominal perimeter. On March 14, 2018, a TTE was performed, with absence of improvement in conventional and advanced ventricular function parameters. Apical thrombi of smaller size compared with previous study, severe left ventricular dysfunction, which worsened with respect to the previous echocardiogram, with 3D LVEF of 25% and GLS 3.7% Discussion We present the case of a woman with MPP, in whom persistent left ventricular dysfunction after 6 months of diagnosis, although cabergoline scheme in addition to optimal medical management for heart failure, with no improvement. In patients who dont present an adequate response to the management, it is necessary to consider enlisting for heart transplantation. Abstract P626 Figure. TTE, severe ventricular dysfunction


2019 ◽  
Author(s):  
Margherita Malanchini ◽  
Kaili Rimfeld ◽  
Andrea Allegrini ◽  
Stuart James Ritchie ◽  
Robert Plomin

Cognitive ability and educational success predict positive outcomes across the lifespan, from higher earnings to better health and longevity. The shared positive outcomes associated with cognitive ability and education are emblematic of the strong interconnections between them. Part of the observed associations between cognitive ability and education, as well as their links with wealth, morbidity and mortality, are rooted in genetic variation. The current review evaluates the contribution of decades of behavioural genetic research to our knowledge and understanding of the biological and environmental basis of the association between cognitive ability and education. The evidence reviewed points to a strong genetic basis in their association, observed from middle childhood to old age, which is amplified by environmental experiences. In addition, the strong stability and heritability of educational success are not driven entirely by cognitive ability. This highlights the contribution of other educationally relevant noncognitive characteristics. Considering both cognitive and noncognitive skills as well as their biological and environmental underpinnings will be fundamental in moving towards a comprehensive, evidence-based model of education.


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