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Familial dilated cardiomyopathy

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https://www.readbyqxmd.com/read/28649555/autosomal-dominant-carvajal-plus-syndrome-due-to-the-novel-desmoplakin-mutation-c-1678a%C3%A2-%C3%A2-t-p-ile560phe
#1
Josef Finsterer, Claudia Stöllberger, Eva Wollmann, Susanne Dertinger, Franco Laccone
BACKGROUND: Carvajal syndrome is an autosomal dominant or autosomal recessive disorder, manifesting with dilated cardiomyopathy, woolly hair, and palmoplantar keratoma. Additional manifestations can be occasionally found. Carvajal syndrome may be due to mutations in the desmocollin-2, desmoplakin, or plakophilin-2 gene. METHODS AND RESULTS: We report a family with Carvajal syndrome which additionally presented with hypoacusis, noncompaction, recurrent pharyngeal infections, oligodontia, and recurrent diarrhoea...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28642161/digenic-inheritance-of-mutations-in-the-cardiac-troponin-tnnt2-and-cardiac-beta-myosin-heavy-chain-myh7-as-the-cause-of-severe-dilated-cardiomyopathy
#2
Evmorfia Petropoulou, Mohammadhossein Soltani, Ali Dehghani Firoozabadi, Seyedeh Mahdieh Namayandeh, Jade Crockford, Reza Maroofian, Yalda Jamshidi
Familial dilated cardiomyopathy (DCM) is characterized by ventricular dilation and depressed myocardial performance. It is a genetically heterogeneous disorder associated with mutations in over 60 genes. We carried out whole exome sequencing in combination with cardiomyopathy-related gene-filtering on two affected family members to identify the possible causative mutation in a consanguineous Iranian family with DCM. Two novel variants in cardiomyopathy-related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c...
June 19, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#3
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28616440/cardiomyopathy-related-to-a-weight-loss-supplement-a-case-report-and-review-of-literature
#4
Ghulam Murtaza, Sujeen Adhikari, Irfan Siddiqui, Hannah Lu, Aneesh Kuruvilla
There are various etiologies of dilated cardiomyopathy. However, in young patients without a strong family history of cardiovascular disease, alcohol or drug abuse, viral infections, and absence of endocrine and metabolic abnormalities, ischemia is an unlikely cause. We present an interesting case of a young female without traditional risk factors who developed dilated cardiomyopathy following administration of a weight loss supplement xenadrine and had resolution of symptoms after discontinuation of the supplement...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28611029/whole-exome-sequencing-identifies-truncating-variants-in-nuclear-envelope-genes-in-patients-with-cardiovascular-disease
#5
Gloria T Haskell, Brian C Jensen, Leigh Ann Samsa, Daniel Marchuk, Wei Huang, Cecile Skrzynia, Christian Tilley, Bryce A Seifert, Edgar A Rivera-Muñoz, Beverly Koller, Kirk C Wilhelmsen, Jiandong Liu, Hassan Alhosaini, Karen E Weck, James P Evans, Jonathan S Berg
BACKGROUND: The genetic variation underlying many heritable forms of cardiovascular disease is incompletely understood, even in patients with strong family history or early age at onset. METHODS AND RESULTS: We used whole exome sequencing to detect pathogenic variants in 55 patients with suspected monogenic forms of cardiovascular disease. Diagnostic analysis of established disease genes identified pathogenic variants in 21.8% of cases and variants of uncertain significance in 34...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28600229/the-structural-basis-of-alpha-tropomyosin-linked-asp230asn-familial-dilated-cardiomyopathy
#6
M L Lynn, L Tal Grinspan, T A Holeman, J Jimenez, J Strom, J C Tardiff
Recently, linkage analysis of two large unrelated multigenerational families identified a novel dilated cardiomyopathy (DCM)-linked mutation in the gene coding for alpha-tropomyosin (TPM1) resulting in the substitution of an aspartic acid for an asparagine (at residue 230). To determine how a single amino acid mutation in α-tropomyosin (Tm) can lead to a highly penetrant DCM we generated a novel transgenic mouse model carrying the D230N mutation. The resultant mouse model strongly phenocopied the early onset of cardiomyopathic remodeling observed in patients as significant systolic dysfunction was observed by 2months of age...
June 7, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28567076/hereditary-dilated-cardiomyopathy-recent-advances-in-genetic-diagnostics
#7
REVIEW
Hyun-Young Park
Dilated cardiomyopathy (DCM) is the most common cause of heart failure in young adults and up to 50% of idiopathic DCM is thought to be caused by genetic mutations in candidate genes. Although a genetic diagnosis can confirm a clinical diagnosis of hereditary DCM, genetic testing has not been easily accessible due to genetic heterogeneity and complexity. Next-generation sequencing (NGS) technologies have recently been introduced, and genetic testing for multiple genes is currently available and more than 40 different genes have been associated with DCM...
May 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/28551597/clozapine-re-exposure-after-dilated-cardiomyopathy
#8
Mariëtte Nederlof, Theo Wj Benschop, Cornelia Adriana de Vries Feyens, Eibert Roelof Heerdink
A 63-year-old woman with diabetes type II and a history of breast cancer was treated with clozapine for her refractory schizophrenia. She developed a dilated cardiomyopathy with an ejection fraction of 25%, a life-threatening event. The cause of heart failure could be multifactorial, with clozapine, family history, chemotherapy, diabetes type II and/or lithium as possible contributing risk factors. Clozapine was discontinued and the patient was referred to a hospice. Two weeks later, her heart failure slowly improved...
May 27, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28510119/genetic-epidemiology-of-titin-truncating-variants-in-the-etiology-of-dilated-cardiomyopathy
#9
REVIEW
Ali M Tabish, Valerio Azzimato, Aris Alexiadis, Byambajav Buyandelger, Ralph Knöll
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump enough blood to meet the body's metabolic demands. Major causes of HF are cardiomyopathies (diseases of the myocardium associated with mechanical and/or electrical dysfunction), among which the most common form is dilated cardiomyopathy (DCM). DCM is defined by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness, which leads to progressive HF. Over 60 genes are linked to the etiology of DCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28509892/arrhythmogenic-right-ventricular-dysplasia-an-under-recognized-form-of-inherited-cardiomyopathy
#10
George O Adesina, Shelly A Hall, Jose C Mendez, Susan M Joseph, Robert L Gottlieb, Parag P Kale, Amarinder S Bindra
We report a case of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) in order to evaluate the course of an under-recognized form of cardiomyopathy with a vast array of clinical manifestations. The patient is a 49-year-old white woman transferred from an outside hospital due to dyspnea and persistent hypoxia. She had a pertinent family history that included a sister who died suddenly in her 30s from unexplained heart failure. Initial work-up for hypoxia was unrevealing. Transthoracic echocardiography revealed isolated right ventricular dysfunction with dilation and multiple trabeculations...
2017: Reviews in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28497843/heart-failure-pilot-transcriptomic-analysis-of-cardiac-tissue-by-rna-sequencing
#11
Concetta Schiano, Valerio Costa, Marianna Aprile, Vincenzo Grimaldi, Ciro Maiello, Roberta Esposito, Andrea Soricelli, Vittorio Colantuoni, Francesco Donatelli, Alfredo Ciccodicola, Claudio Napoli
BACKGROUND: Despite left ventricular (LV) dysfunction contributing to mortality in chronic heart failure (HF), the molecular mechanisms of LV failure continues to remain poorly understood and myocardial biomarkers have yet to be identified. The aim of this pilot study was to investigate specific transcriptome changes occurring in cardiac tissues of patients with HF compared to healthy condition patients to improve diagnosis and possible treatment of affected subjects. METHODS: Unlike other studies, only dilated cardiomyopathy (DCM) (n = 2) and restrictive cardiomyopathy (RCM) (n = 2) patients who did not report family history of the disease were selected with the aim of obtaining a homogeneous population for the study...
May 12, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28492156/electrical-storm-or-naxos-syndrome-in-an-adult-causing-recurrent-syncope
#12
Muhammad Furrakh Maqbool, Muhammad Sajid, Ahmed Noeman
Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28487781/hypocalciuric-hypercalcemia-due-to-impaired-renal-tubular-calcium-excretion-in-a-type-2-diabetic-patient
#13
Sihao Yang, Yan Ren, Xi Li, Haoming Tian, Zhenmei An, Tao Chen
The case we presented here was a 73-year-old gentleman, who was admitted to endocrinology department due to recurrent fatigue for 1 year. He had medical histories of type 2 diabetes for 18 years and developed CKD 4 years ago. He also suffered from dilated cardiomyopathy, and coronary heart disease, moderate sleep apnea syndrome, primary hypothyroidism, and gout. His treatment regimen was complicated which included Caltrate D and compound α-keto acid (1200 mg calcium/d). Laboratory examination revealed that his serum calcium level elevated, 24-hour urine calcium output decreased, PTH level was suppressed, and 25-hydroxyvitamin D was in normal low range...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#14
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
2017: Cardiology
https://www.readbyqxmd.com/read/28401079/mutation-in-%C3%AE-sg-gene-in-familial-dilated-cardiomyopathy
#15
Marzieh Asadi, Roger Foo, Ahmad Reza Salehi, Rasoul Salehi, Mohammad Reza Samienasab
BACKGROUND: Mutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. The δ-SG gene contains nine exons spanning a 433-kb region of genomic DNA. It encodes a 35-kDa, singlepass, and type II transmembrane glycoprotein. MATERIALS AND METHODS: In this study for the first time in Iran we screened 6 patients of a large family that they had positive family history of MI or sudden death by next generation sequencing method...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28391114/genotype-phenotype-dilemma-in-a-case-of-sudden-cardiac-death-with-the-e1053k-mutation-and-a-deletion-in-the-scn5a-gene
#16
T Jenewein, B M Beckmann, S Rose, H H Osterhues, U Schmidt, C Wolpert, P Miny, C Marschall, M Alders, C R Bezzina, A A M Wilde, S Kääb, S Kauferstein
Mutations in the cardiac sodium channel gene SCN5A may result in various arrhythmia syndromes such as long QT syndrome type 3 (LQTS), Brugada syndrome (BrS), sick sinus syndrome (SSS), cardiac conduction diseases (CCD) and possibly dilated cardiomyopathy (DCM). In most of these inherited cardiac arrhythmia syndromes the phenotypical expression may range from asymptomatic phenotypes to sudden cardiac death (SCD). A 16-year-old female died during sleep. Autopsy did not reveal any explanation for her death and a genetic analysis was performed...
March 20, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28356264/screening-of-the-filamin-c-gene-in-a-large-cohort-of-hypertrophic-cardiomyopathy-patients
#17
Juan Gómez, Rebeca Lorca, Julian R Reguero, César Morís, María Martín, Salvador Tranche, Belén Alonso, Sara Iglesias, Victoria Alvarez, Beatriz Díaz-Molina, Pablo Avanzas, Eliecer Coto
BACKGROUND: Recent exome sequencing studies identified filamin C (FLNC) as a candidate gene for hypertrophic cardiomyopathy (HCM). Our aim was to determine the rate of FLNC candidate variants in a large cohort of HCM patients who were also sequenced for the main sarcomere genes. METHODS AND RESULTS: A total of 448 HCM patients were next generation-sequenced (semiconductor chip technology) for the MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1, and FLNC genes...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28315399/truncating-titin-ttn-variants-in-chemotherapy-induced-cardiomyopathy
#18
M Linschoten, A J Teske, A F Baas, A Vink, D Dooijes, H F Baars, F W Asselbergs
Chemotherapy-induced cardiomyopathy (CCMP) is a complication of chemotherapy treatment occurring in 9% of patients treated with the use of anthracyclines. Currently, risk stratification is based on clinical risk factors that do not adequately account for variable individual susceptibility. This suggests the presence of other determinants. In this case series, we describe 2 women with breast cancer who developed severe heart failure within months after chemotherapy. Genetic screening revealed truncating frameshift mutations in TTN, encoding the myofilament titin, in both women...
March 14, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28296976/exome-wide-association-study-reveals-novel-susceptibility-genes-to-sporadic-dilated-cardiomyopathy
#19
Ulrike Esslinger, Sophie Garnier, Agathe Korniat, Carole Proust, Georgios Kararigas, Martina Müller-Nurasyid, Jean-Philippe Empana, Michael P Morley, Claire Perret, Klaus Stark, Alexander G Bick, Sanjay K Prasad, Jennifer Kriebel, Jin Li, Laurence Tiret, Konstantin Strauch, Declan P O'Regan, Kenneth B Marguiles, Jonathan G Seidman, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Christian Hengstenberg, Michel Komajda, Hakon Hakonarson, Richard Isnard, Eloisa Arbustini, Harald Grallert, Stuart A Cook, Christine E Seidman, Vera Regitz-Zagrosek, Thomas P Cappola, Philippe Charron, François Cambien, Eric Villard
AIMS: Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. METHODS AND RESULTS: 116,855 single nucleotide variants (SNVs) were analyzed in 2796 DCM patients and 6877 control subjects from 6 populations of European ancestry. We confirmed two previously identified associations with SNVs in BAG3 and ZBTB17 and discovered six novel DCM-associated loci (Q-value<0...
2017: PloS One
https://www.readbyqxmd.com/read/28292197/sudden-death-risk-stratification-in-non-ischemic-dilated-cardiomyopathy-using-old-and-new-tools-a-clinical-challenge
#20
REVIEW
Antonis S Manolis
Risk stratification for sudden cardiac death in non-ischemic dilated cardiomyopathy (NIDCM) remains a clinical challenge. Areas covered: Currently, left ventricular ejection fraction (LVEF), severity of heart failure symptoms according to NYHA classification, and morphology and duration of the QRS complex guide device management in these patients with implantation of a cardioverter defibrillator (ICD) and/or cardiac resynchronization therapy (CRT) devices. Recently, the results of a randomized trial stirred some controversy regarding the utility of ICD in NIDCM patients, however, a subsequent meta-analysis confirmed prior findings of the survival-prolonging benefit of device therapy...
April 2017: Expert Review of Cardiovascular Therapy
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