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Impact of Angiotensin I Converting Enzyme Insertion/Deletion Polymorphisms on Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy Risk  [PDF]
Jianmin Yang, Yunhan Zhao, Panpan Hao, Xiao Meng, Mei Dong, Ying Wang, Yun Zhang, Cheng Zhang
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0063309
Abstract: Background Genetic factors in the pathogenesis of cardiomyopathies have received a lot attention during the past two decades. Angiotensin I converting enzyme (ACE) insertion/deletion (I/D) polymorphisms were found to be associated with cardiomyopathies. However, the previous results were inconsistent. The current meta-analysis aims to examine the association of ACE I/D polymorphisms and dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM). Methods Eight studies on DCM (1387 controls and 977 patients) and eight studies on HCM (1055 controls and 827 patients) were included in this meta-analysis. Results The overall data showed no significant association between ACE I/D polymorphism and DCM risk. Further subgroup analysis by ethnicity also did not find a significantly increased risk for D allele carriers among East Asians and Europeans. However, the overall analysis suggested that the D allele carriers might be associated with increased risk of HCM (DD/ID vs. II: OR = 1.69, 95% CI 1.04–2.74, P = 0.03). Conclusion In summary, the meta-analysis indicated that certain ACE I/D polymorphism might be associated with HCM but not DCM susceptibility. Given the limited sample sizes, further large multicenter case-control investigation is needed.
The Mutations Associated with Dilated Cardiomyopathy  [PDF]
Ruti Parvari,Aviva Levitas
Biochemistry Research International , 2012, DOI: 10.1155/2012/639250
Abstract: Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM). The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes. 1. Introduction Disorders of the heart leading to heart failure are leading causes of morbidity and mortality. Cardiomyopathy is a heterogeneous disease caused by functional abnormality of cardiac muscle and classified as primary or secondary cardiomyopathy [1]. Secondary cardiomyopathy is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders, whereas the diagnosis of primary cardiomyopathy is based on exclusion of secondary cardiomyopathy and there are several different clinical types [2, 3]. Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are the two major cardiomyopathies. DCM is characterized by a dilated ventricular cavity with systolic dysfunction; the clinical symptom of DCM is heart failure, which is often associated with arrhythmia and sudden death. On the other hand, HCM, a major cause of heart failure and sudden death in the young and, is characterized by left ventricular hypertrophy, often asymmetric, accompanied by myofibrillar disarrays and reduced compliance (diastolic dysfunction) of the cardiac ventricles. The diagnosis of dilated cardiomyopathy (DCM) is based on the presence of left ventricular enlargement and reduced systolic dysfunction with an ejection fraction <50% or, more stringently, <45%. In children cardiomyopathy is a rare disorder, yet it is a common cause of heart failure and heart transplantation (HTx) [4]. The Pediatric
Peripartum dilated cardiomyopathy  [PDF]
?or?evi? Spomenka,Berisavac Milica,Lju?tina Sa?a,Jev?i? Lidija
SANAMED , 2011,
Abstract: Peripartum cardiomyopathy (PPCM) is a form of dilated cardiomyopathy that is defined as deterioration in cardiac function presenting towards the end of pregnancy or in the months following delivery, where no other cause of HF is found. As with other forms of dilated cardiomyopathy, PPCM involves systolic dysfunction of the heart with a decrease of the left ventricular ejection fraction (EF) with associated congestive heart failure and an i ncreased risk of atrial and ventricular arrhythmias, thromboembolism, and even sudden car diac death. m this case report, we describe the development of PPCM in 37 year-old primigravida with a twin pregnancy. It is well-known from literature that twin pregnancy is considered a risk factor for development of PPCM. However, the association of twin pregnancy and PPCM is unclear. Our patient improved remarkably. We review the diagnostic procedures of PPCM and its management. Conclusion: Early diagnosis and intensive treatment by a multidisciplinary team is a prerequisite for improved outcome.
Polymorphisms of the endothelial nitric oxide synthase (NOS3) gene in preeclampsia: a candidate-gene association study
Nikos Zdoukopoulos, Chrysa Doxani, Ioannis E Messinis, Ioannis Stefanidis, Elias Zintzaras
BMC Pregnancy and Childbirth , 2011, DOI: 10.1186/1471-2393-11-89
Abstract: We examined the association of three common variants of the NOS3 gene (4b/a, T-786C and G894T) and their haplotypes in a case-control sample of 102 patients with preeclampsia and 176 women with a history of uncomplicated pregnancies. Genotyping for the NOS3 variants was performed and odds ratios and 95% confidence intervals were obtained to evaluate the association between NOS3 polymorphisms and preeclampsia.The single locus analysis for the three variants using various genetic models and a model-free approach revealed no significant association in relation to clinical status. The analysis of haplotypes also showed lack of significant association.Given the limitations of the candidate-gene approach in investigating complex traits, the evidence of our study does not support the major contributory role of these common NOS3 variants in preeclampsia. Future larger studies may help in elucidating the genetics of preeclampsia further.Preeclampsia is a medical condition in which high blood pressure and elevated urinary excretion of protein develop in pregnancy [1]. Family-based studies have shown that genetic factors may play a role in preeclampsia [2]. In addition, candidate-gene association studies (GAS) on preeclampsia have not produced conclusive results so far [3]. However, the pathogenesis of preeclampsia is poorly understood and the search for low-penetrance genes by hypothesis-driven candidate-gene studies (genetic association study-GAS) and hypothesis-free genome-wide association studies is ongoing [4].The leading hypotheses, concerning the pathogenesis of preeclampsia, are based on disturbed placental function and impaired remodelling of the spiral arteries [5]. Endothelial nitric oxide synthase (NOS3) is an important regulator of vascular tone and contributes to the reduction of the uteroplacental resistance seen in normal pregnancy [6-8]. Therefore, the endothelial nitric oxide synthase gene (NOS3), located at the 7q35-q36 region, has emerged as a logical candi
The Mutations Associated with Dilated Cardiomyopathy  [PDF]
Ruti Parvari,Aviva Levitas
Biochemistry Research International , 2012, DOI: 10.1155/2012/639250
Abstract: Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM). The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.
Cardiomyopathy, familial dilated
Matthew RG Taylor, Elisa Carniel, Luisa Mestroni
Orphanet Journal of Rare Diseases , 2006, DOI: 10.1186/1750-1172-1-27
Abstract: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilatation and impaired systolic function [1]. DCM is a leading cause of heart failure and arrhythmia. Due to its significant prevalence, high mortality and morbidity, including frequent hospitalizations, DCM is a major health concern for adults. Despite improvements in the treatment of heart failure introduced in the last 10 years, including the general availability of cardiac transplantation and better medical treatment, clinical outcome following the onset of symptoms has not substantially changed. Mortality remains high, the disease is progressive and unrelenting, and disability and morbidity are among the highest of any disease or disease syndrome.DCM is defined as idiopathic , when the disease appears sporadic, isolated in a single member of a family and without known cause, or familial when occurring in two or more related family members [1,2].The diagnosis of DCM is made according to criteria provided by the World Health Organization/International Society and Federation of Cardiology (WHO/ISFC) [1], the Guidelines of the National Heart, Lung, and Blood Institute Workshop on the Prevalence and the Etiology of Idiopathic Dilated Cardiomyopathy [3] and the more recent Guidelines for the Study of Familial Dilated Cardiomyopathies [2], designed to improve the sensitivity and specificity of the old classification criteria.DCM is defined by the presence of: a) fractional shortening (FS) less than 25% (> 2SD) and/or ejection fraction less than 45% (> 2SD); and b) left ventricular end diastolic diameter (LVEDD) greater than 117% (>2SD of the predicted value of 112% corrected for age and body surface area, BSA) [4], excluding any known cause of myocardial disease. In the context of a familial DCM, these criteria are used to diagnose the proband in a family.A familial DCM (FDC) is defined by the presence of: a) two or more affected relatives with DCM meeting the above criteria; o
Idiopathic dilated cardiomyopathy in pregnancy  [PDF]
Jo?o Paulo Candido Barbosa, Maria Regina Melo da Justa Feij?o, Francisco Herlanio Costa Carvalho, Carlos Augusto Alencar Jr., Francisco Edson de Lucena Feitosa
Open Journal of Obstetrics and Gynecology (OJOG) , 2013, DOI: 10.4236/ojog.2013.35080
Abstract:

The aim of this study was to highlight the importance of knowledge of idiopathic dilated cardiomyopathy (IDC) in pregnancy and its complications, with the order to establish early diagnosis and treatment. We report the case of a primigravida aged 17, previously healthy, 18 weeks of gestation with dyspnea at rest, which started 2 weeks ago. During the investigation, the echocardiogram (ECO) showed left ventricle (LV) dilation with impaired systolic and diastolic function, LV ejection fraction of 20%. We did not identify a cause for the patient’s clinical condition, being diagnosed with IDC. The patient remained in obstetrics and cardiology monitoring for up to 23 weeks of gestation, when it was decided by the interruption of pregnancy by caesarean section due to hemodynamic instability. The newborn came to death four days after the procedure. The patient evolved to clinical improvement, 16 days after the resolution of gestation, was discharged for outpatient monitoring.

Sheehan syndrome with reversible dilated cardiomyopathy  [cached]
Laway Bashir,Alai Mohammad,Gojwari Tariq,Ganie Mohd
Annals of Saudi Medicine , 2010,
Abstract: Cardiac abnormalities in patients with Sheehan syndrome are uncommon. A case of Sheehan syndrome with dilated cardiomyopathy is presented in whom hormone replacement with levothyroxine and prednisolone resulted in complete recovery of cardiomyopathy. A 25-year-old woman presented with lactation failure, secondary amenorrhea, features of hypothyroidism and a hypocortisol state following severe postpartum hemorrhage after her last child birth. She also had smear positive pulmonary tuberculosis. After starting antitubercular treatment, she developed shock, suggestive of hypocortisol crisis. Hormonal investigations revealed evidence of panhypopitutarism and magnetic resonance imaging revealed partial empty sella. Meanwhile echocardiography revealed evidence of dilated cardiomyopathy (DCM). The patient was given replacement therapy in the form of glucocorticoids and levothyroxine in addition to antitubercular treatment. She improved and on follow-up over a period of 7 months, the DCM completely reversed. To our knowledge this is the first report of reversible DCM in a patient with Sheehan syndrome.
Calreticulin Induces Dilated Cardiomyopathy  [PDF]
Dukgyu Lee, Tatsujiro Oka, Beth Hunter, Alison Robinson, Sylvia Papp, Kimitoshi Nakamura, Wattamon Srisakuldee, Barbara E. Nickel, Peter E. Light, Jason R. B. Dyck, Gary D. Lopaschuk, Elissavet Kardami, Michal Opas, Marek Michalak
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0056387
Abstract: Background Calreticulin, a Ca2+-buffering chaperone of the endoplasmic reticulum, is highly expressed in the embryonic heart and is essential for cardiac development. After birth, the calreticulin gene is sharply down regulated in the heart, and thus, adult hearts have negligible levels of calreticulin. In this study we tested the role of calreticulin in the adult heart. Methodology/Principal Findings We generated an inducible transgenic mouse in which calreticulin is targeted to the cardiac tissue using a Cre/loxP system and can be up-regulated in adult hearts. Echocardiography analysis of hearts from transgenic mice expressing calreticulin revealed impaired left ventricular systolic and diastolic function and impaired mitral valve function. There was altered expression of Ca2+ signaling molecules and the gap junction proteins, Connexin 43 and 45. Sarcoplasmic reticulum associated Ca2+-handling proteins (including the cardiac ryanodine receptor, sarco/endoplasmic reticulum Ca2+-ATPase, and cardiac calsequestrin) were down-regulated in the transgenic hearts with increased expression of calreticulin. Conclusions/Significance We show that in adult heart, up-regulated expression of calreticulin induces cardiomyopathy in vivo leading to heart failure. This is due to an alternation in changes in a subset of Ca2+ handling genes, gap junction components and left ventricle remodeling.
Newborn with Dilated Cardiomyopathy Secondary to Vitamin D Deficiency
Hanan Al Azkawi,Angham Al Mutair
Case Reports in Pediatrics , 2012, DOI: 10.1155/2012/945437
Abstract: Hypocalcemia is a rare but reversible cause of dilated cardiomyopathy with limited cases being reported in the literature. Vitamin D deficiency is the main cause of hypocalcemia in almost all reported cases. We report a newborn presented with hypocalcemia-induced dilated cardiomyopathy secondary to vitamin D deficiency. After calcium and vitamin D therapy, the baby showed a rapid recovery of the cardiac function.
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