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    1845 results match your criteria Cardiomyopathy Restrictive

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    Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.
    Rom J Morphol Embryol 2017 ;58(1):225-230
    Department of Cardiology, "Prof. Dr. C. C. Iliescu" Institute of Emergency for Cardiovascular Diseases, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania;
    A 25-year-old woman with a five years history of syncope, mild left ventricular hypertrophy and moderately enlarged atria, was diagnosed with third degree atrioventricular heart block alternating with atrioventricular heart block 2:1, and received a dual chamber pacemaker. After three years of evolution, she developed atrial fibrillation, marked biatrial enlargement, severely depressed longitudinal myocardial velocities, associated with mild girdle weakness and slight increase in creatine kinase level. The diagnosis of restrictive cardiomyopathy with mild skeletal myopathy imposed the screening for a common etiology. Read More

    Amyloidosis - a rare cause of refractory heart failure in a young female.
    Rom J Morphol Embryol 2017 ;58(1):201-206
    Department of Ophthalmology, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania;
    Cardiac amyloidosis may occur in any type of systemic amyloidosis. The clinical picture is often characterized by restrictive cardiomyopathy. We report the case of a 41-year-old female patient admitted to the Department of Cardiology with clinical signs of right heart failure: congested jugular veins, hepatomegaly, peripheral edema, ascites associated with atrial fibrillation, low values of arterial blood pressure and oliguria. Read More

    Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach.
    World J Cardiol 2017 Apr;9(4):320-331
    Qingqing Gu, Biao Xu, Department of Cardiology, Drum Tower Clinic Hospital, Nanjing Medical University, Nanjing 211166, Jiangsu Province, China.
    Aim: To investigate the regulation of Myopalladin (Mypn) and identify its gene network involved in restrictive cardiomyopathy (RCM).

    Methods: Gene expression values were measured in the heart of a large family of BXD recombinant inbred (RI) mice derived from C57BL/6J and DBA/2J. The proteomics data were collected from Mypn knock-in and knock-out mice. Read More

    Heart failure: Pilot transcriptomic analysis of cardiac tissue by RNA-sequencing.
    Cardiol J 2017 May 12. Epub 2017 May 12.
    IRCCS SDN via E. Gianturco, 113 80143 Naples, Italy.
    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. Read More

    The novel αB-Crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
    Hum Mutat 2017 May 11. Epub 2017 May 11.
    Department of Thoracic and Cardiovascular Surgery, Heart and Diabetes Centre NRW, University Hospital of the Ruhr-University Bochum, Erich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI).
    Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense mutation c. Read More

    A Rare Case of Pregnancy with Restrictive Cardiomyopathy.
    J Cardiovasc Echogr 2016 Apr-Jun;26(2):65-67
    Department of Obstetrics and Gynecology, M.S. Ramaiah Medical College, Bengaluru, Karnataka, India.
    Restrictive cardiomyopathy (RCM) is a relatively rare form of cardiomyopathy with high mortality which is characterized by impaired filling of the ventricles in the presence of normal wall thickness and systolic function. RCM is generally seen in association with infiltrative, storage, or systemic diseases. We present a rare case of familial RCM with pregnancy which was successfully managed. Read More

    Surgical Treatment of Constrictive Pericarditis.
    Tex Heart Inst J 2017 Apr 1;44(2):101-106. Epub 2017 Apr 1.
    Constrictive pericarditis is the final stage of a chronic inflammatory process characterized by fibrous thickening and calcification of the pericardium that impairs diastolic filling, reduces cardiac output, and ultimately leads to heart failure. Transthoracic echocardiography, computed tomography, and cardiac magnetic resonance imaging each can reveal severe diastolic dysfunction and increased pericardial thickness. Cardiac catheterization can help to confirm a diagnosis of diastolic dysfunction secondary to pericardial constriction, and to exclude restrictive cardiomyopathy. Read More

    Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).
    Cardiovasc Pathol 2017 Apr 18;29:19-22. Epub 2017 Apr 18.
    Department of Rheumatology & Clinical Immunology, University of Groningen, University Medical Center Groningen, The Netherlands.
    Objective: The clinical description of a novel TTR gene mutation characterized by a late onset amyloid cardiomyopathy.

    Methods And Results: A 78-year-old man of Dutch origin with recent surgery for bilateral carpal tunnel syndrome (CTS) was admitted to our hospital because of heart failure with preserved ejection fraction (55%). Cardiac ultrasound showed thickened biventricular walls, and cardiac magnetic resonance imaging also showed late gadolinium enhancement. Read More

    Kidney Transplantation in Alström Syndrome: Case Report.
    Transplant Proc 2017 May;49(4):733-735
    UOC Chirurgia Generale e Trapianti d'Organo, La Sapienza Università di Roma, Policlinico Umberto I, Rome, Italy.
    The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Read More

    A reappraisal of the mechanisms underlying the cardiac complications of sickle cell anemia.
    Pediatr Blood Cancer 2017 Apr 28. Epub 2017 Apr 28.
    Division of Experimental Hematology & Cancer Biology and Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
    Anemia, hemolysis-driven vasculopathy, and intrinsic myocardial injury have been proposed as predisposing factors to cardiac disease in sickle cell anemia (SCA). The individual impact of these mechanisms on the cardiac features of SCA and the way they influence complications such as sudden death and dysrhythmias have been unclear. Recent findings of an acquired restrictive SCA-related cardiomyopathy, driven by myocardial fibrosis, may explain some of these cardiac features. Read More

    Myosin Rod Hypophosphorylation and CB Kinetics in Papillary Muscles from a TnC-A8V KI Mouse Model.
    Biophys J 2017 Apr;112(8):1726-1736
    Department of Biomedical Sciences, College of Medicine, The Florida State University, Tallahassee, Florida.
    The cardiac troponin C (TnC)-A8V mutation is associated with hypertrophic and restrictive cardiomyopathy (HCM and RCM) in human and mice. The residue affected lies in the N-helix, a region known to affect Ca(2+)-binding affinity to the N-terminal domain. Here we report on the functional effects of this mutation in skinned papillary muscle fibers from homozygous knock-in TnC-A8V mice. Read More

    Hypereosinophilic syndrome: endomyocardial biopsy versus echocardiography to diagnose cardiac involvement.
    Postgrad Med 2017 Apr 25:1-7. Epub 2017 Apr 25.
    a Division of Allergic Diseases, and Mayo Clinic Program for Mast Cell and Eosinophilic Disorders , Mayo Clinic , Rochester , MN , USA.
    Objective: To compare echocardiograms and endomyocardial biopsies to diagnose cardiac involvement in hypereosinophilic syndrome.

    Methods: We examined the agreement between echocardiography and endomyocardial biopsies to detect cardiac involvement in hypereosinophilic syndrome by reviewing cases identified as hypereosinophilia or hypereosinophilic syndrome in Mayo Clinic databases from January 1978 through June 2009. Single-organ cases of eosinophilia such as eosinophilic fasciitis and eosinophilic gastroenteritis were excluded. Read More

    Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always what they seem.
    Front Med 2017 Apr 19. Epub 2017 Apr 19.
    Department of Cardiovascular Medicine, the Second Xiangya Hospital, Central South University, Changsha, 410011, China.
    Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias. The patient presented with hypertension, chronic Guillain-Barre syndrome, and sick sinus syndrome. Read More

    New Cardiac Imaging Algorithms to Diagnose Constrictive Pericarditis Versus Restrictive Cardiomyopathy.
    Curr Cardiol Rep 2017 May;19(5):43
    Heart and Vascular Institute, West Virginia University, 1 Medical Center Drive, Morgantown, WV, 26506, USA.
    Purpose Of Review: Echocardiography is the mainstay in the diagnostic evaluation of constrictive pericarditis (CP) and restrictive cardiomyopathy (RCM), but no single echocardiographic parameter is sufficiently robust to accurately distinguish between the two conditions. The present review summarizes the recent advances in echocardiography that promise to improve its diagnostic performance for this purpose. The role of other imaging modalities such as cardiac computed tomography, magnetic resonance imaging, and invasive hemodynamic assessment in the overall diagnostic approach is also discussed briefly. Read More

    Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation.
    Korean Circ J 2017 Mar 13;47(2):270-277. Epub 2017 Mar 13.
    Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
    Genetic diagnosis of cardiomyopathies is challenging, due to the marked genetic and allelic heterogeneity and the lack of knowledge of the mutations that lead to clinical phenotypes. Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. The proband was a 57-year-old female with HCMP. Read More

    Effect of preoperative left ventricular diastolic dysfunction on mid-term outcomes after surgical ventricular restoration for ischemic cardiomyopathy.
    Gen Thorac Cardiovasc Surg 2017 Apr 4. Epub 2017 Apr 4.
    Department of Cardiovascular Surgery, Faculty of Medicine, University of Miyazaki, 5200 Kiyotakecho Kihara, Miyazaki-city, Miyazaki, 889-1692, Japan.
    Objectives: The impact of surgical ventricular restoration (SVR) on survival and major adverse cardiac events (MACEs) is still controversial. The purposes of this study were to analyze our surgical experience with SVR for ischemic cardiomyopathy and to determine the effect of preoperative left ventricular diastolic dysfunction on mid-term outcomes after SVR.

    Methods And Results: Between April 2010 and May 2016, 19 patients underwent SVR. Read More

    Hypercontractile mutant of ventricular myosin essential light chain leads to disruption of sarcomeric structure and function and results in restrictive cardiomyopathy in mice.
    Cardiovasc Res 2017 Mar 23. Epub 2017 Mar 23.
    Molecular and Cellular Pharmacology University of Miami Miller School of Medicine, Miami, FL 33136.
    Aims: The E143K (Glu→Lys) mutation in the myosin essential light chain (ELC) has been associated with restrictive cardiomyopathy (RCM) in humans, but the mechanisms that underlie the development of defective cardiac function are unknown. Using transgenic E143K-RCM mice, we sought to determine the molecular and cellular triggers of E143K-induced heart remodeling.

    Methods And Results: The E143K-induced abnormalities in cardiac function and morphology observed by echocardiography and invasive hemodynamics were paralleled by augmented active and passive tension measured in skinned papillary muscle fibers compared with wild-type (WT)-generated force. Read More

    Clinical Genetic Testing in Pediatric Cardiomyopathy: Is Bigger Better?
    Clin Genet 2017 Mar 30. Epub 2017 Mar 30.
    Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.
    For clinical genetic testing of cardiomyopathy (CMP), current guidelines do not address which gene panels to use: targeted panels specific to a CMP phenotype or expanded (panCMP) panels that include genes associated with multiple phenotypic subtypes. Our objective was to assess the clinical utility of targeted versus panCMP panel testing in pediatric CMPs. 151 pediatric patients with primary hypertrophic (n = 66), dilated (n = 64), restrictive (n = 8), or left-ventricular non-compaction (n = 13) CMP who underwent clinical genetic panel testing at a single centre were included. Read More

    Magnetic resonance imaging for characterizing myocardial diseases.
    Int J Cardiovasc Imaging 2017 Mar 31. Epub 2017 Mar 31.
    Department of Radiology and Biomedical Imaging, School of Medicine, University of California San Francisco, 185 Berry Street, Suite 350, Campus Box 0946, San Francisco, CA, 94107-5705, USA.
    The National Institute of Health defined cardiomyopathy as diseases of the heart muscle. These myocardial diseases have different etiology, structure and treatment. This review highlights the key imaging features of different myocardial diseases. Read More

    Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
    Circ Cardiovasc Genet 2017 Apr;10(2)
    From the Unidad de Referencia de Cardiopatías Familiares-HUCA, Genética Molecular y Cardiología, Hospital Universitario Central Asturias, Oviedo, Spain (J.G., R.L., J.R.R., C.M., M.M., B.A., S.I., V.A., B.D.-M., P.A., E.C.); Fundación Asturcor, Spain (J.R.R., C.M.); Departamento de Medicina, Universidad de Oviedo, Spain (C.M., E.C.); Centro Salud El Cristo, Oviedo, Spain (S.T.); and Red de Investigación Renal (REDINREN), Madrid, Spain (E.C.).
    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. Read More

    Cardiac manifestations of parasitic diseases.
    Heart 2017 May 11;103(9):651-658. Epub 2017 Mar 11.
    Hospital das Clinicas, School of Medicine, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil.
    The heart may be affected directly or indirectly by a variety of protozoa and helminths. This involvement may manifest in different ways, but the syndromes resulting from impairment of the myocardium and pericardium are the most frequent. The myocardium may be invaded by parasites that trigger local inflammatory response with subsequent myocarditis or cardiomyopathy, as occurs in Chagas disease, African trypanosomiasis, toxoplasmosis, trichinellosis and infection with free-living amoebae. Read More

    Multiparametric cardiac magnetic resonance imaging (CMR) for the diagnosis of Loeffler's endocarditis: a case report.
    BMC Cardiovasc Disord 2017 Mar 11;17(1):74. Epub 2017 Mar 11.
    Department of Cardiology, Pulmonology and Vascular Medicine, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
    Background: Endocarditis parietalis fibroplastica Löfflein (EPF) is a rare form of primary restrictive cardiomyopathy with poor prognosis. It is generally caused by hypereosinophilic syndrome with eosinophilic penetration of the heart. This leads to congestive heart failure in three different stages. Read More

    Progressively invalidating orthostatic hypotension: A common symptom for a challenging diagnosis.
    J Res Med Sci 2016 7;21:117. Epub 2016 Nov 7.
    Department of Internal Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
    We discuss here an uncommon condition of neurogenic hypotension in the context of immunoglobulin light chain (amyloid light-chain) amyloidosis. The most serious feature was autonomic nervous system impairment, mainly characterized by severe refractory orthostatic hypotension, which became progressively invalidating, forcing the patient to bed. Moreover, since the systemic involvement of the disease, the patient presented also diarrhea, dysphagia, asthenia, peripheral edema because of gastrointestinal, and kidney dysfunction. Read More

    Amyloid heart disease: genetics translated into disease-modifying therapy.
    Heart 2017 Jun 2;103(11):812-817. Epub 2017 Mar 2.
    Cleveland Clinic Foundation, Center for Clinical Genomics, Cleveland, Ohio, USA.
    Given increased awareness and improved non-invasive diagnostic tools, cardiac amyloidosis has become an increasingly recognised aetiology of increased ventricular wall thickness and heart failure with preserved ejection fraction. Once considered a rare disease with no treatment options, translational research has harnessed novel pathways and led the way to promising treatment options. Gene variants that contribute to amyloid heart disease provide unique opportunities to explore potential disease-modifying therapeutic strategies. Read More

    Impact of airflow limitation in chronic heart failure.
    Neth Heart J 2017 May;25(5):335-342
    Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.
    Background: Comorbidities are common in chronic heart failure (HF) patients, but diagnoses are often not based on objective testing. Chronic obstructive pulmonary disease (COPD) is an important comorbidity and often neglected because of shared symptoms and risk factors. Precise prevalence and consequences are not well known. Read More

    Left ventricular function and exercise performance in idiopathic dilated cardiomyopathy: role of tissue Doppler imaging.
    J Cardiovasc Med (Hagerstown) 2017 Apr;18(4):230-236
    aCardiovascular Department, 'Ospedali Riuniti'bPostgraduate School of Cardiovascular Sciences, University of TriestecCardiovascular Center, Health Authority No. 1, TriestedCardiologic Center Monzino, IRCCS, Milano, Italy.
    Background: To examine the relationship between left ventricular (LV) function evaluated at echocardiography and exercise performance in idiopathic dilated cardiomyopathy (IDCM) patients.

    Methods And Results: We enrolled 76 consecutive IDCM patients in sinus rhythm, undergoing cardiopulmonary exercise testing and echocardiography [49 ± 13 years old; LV ejection fraction 31 ± 7%, LV end-diastolic volume 96 ± 31 ml/m; peak oxygen consumption (peak VO2/kg) 18 ± 5.6 ml/kg/min]. Read More

    Left ventricular non-compaction in a patient with ankylosing.
    J Cardiovasc Thorac Res 2016 30;8(4):188-189. Epub 2016 Dec 30.
    University at Buffalo, Buffalo, New York, 14214, USA.
    A 58 years old male with a long-standing history of HLA-B27 positive ankylosing spondylitis presented with increasing fatigue and dyspnea on exertion. He had left ventricular dysfunction and enlargement, flail right coronary leaflet of aortic valve with severe eccentric aortic insufficiency along with left ventricular non-compaction in echocardiography. The most common cardiac manifestations of ankylosing spondylitis are aortic insufficiency and conduction disturbances. Read More

    Proteasome dysfunction in cardiomyopathies.
    J Physiol 2017 Feb 8. Epub 2017 Feb 8.
    Department of Neurobiology, Physiology, and Behaviour, University of California, Davis, CA, 95616, USA.
    The ubiquitin-proteasome system (UPS) plays a critical role in removing unwanted intracellular proteins and is involved in protein quality control, signalling and cell death. Because the heart is subject to continuous metabolic and mechanical stress, the proteasome plays a particularly important role in the heart, and proteasome dysfunction has been suggested as a causative factor in cardiac dysfunction. Proteasome impairment has been detected in cardiomyopathies, heart failure, myocardial ischaemia, and hypertrophy. Read More

    Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy.
    Circ Heart Fail 2017 Feb;10(2)
    From the Division of Cardiology, Department of Medicine (S.S., H.Y., R.B., F.W., D.I.P., G.Y.O.) and Mazankowski Alberta Heart Institute (S.S., H.Y., R.B., D.I.P., G.Y.O.), University of Alberta, Edmonton, Canada; and Blueprint Genetics Inc, San Francisco, CA (T.-P.A.).

    Ethical considerations of transparency, informed consent, and nudging in a patient with paediatric aortic stenosis and symptomatic left ventricular endocardial fibroelastosis.
    Cardiol Young 2016 Dec;26(8):1573-1580
    3Division of Cardiovascular Surgery,Johns Hopkins All Children's Heart Institute,Johns Hopkins All Children's Hospital and Florida Hospital for Children,Saint Petersburg,Tampa,and Orlando,Florida,United States of America.
    A 9-year-old boy who was born with bicuspid aortic stenosis underwent two unsuccessful aortic valvuloplasty interventions, and by 2 years of age he developed restrictive cardiomyopathy caused by left ventricular endocardial fibroelastosis and diastolic dysfunction. The attending cardiologist referred the patient to a high-volume, high-profile congenital cardiac surgical programme 1000 miles away that has a team with considerable experience with left ventricular endocardial fibroelastosis resection and a reputation of achieving good results. Owing to problems with insurance coverage, the parents sought other options for the care of their child in their home state. Read More

    Renin-angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes.
    Mol Cell Biochem 2017 Mar 24;427(1-2):1-11. Epub 2017 Jan 24.
    Department of Experimental Medicine and Biotechnology, PGIMER, Lab No 2009, Research Block B, Chandigarh, 160012, India.
    The renin-angiotensin (RAS) pathway has an important role in the etiology of heart failure and given the importance of RAS as a therapeutic target in various cardiomyopathies, genetic polymorphisms in the RAS genes may modulate the risk and severity of disease in cardiomyopathy patients. In the present study, we examined the association of RAS pathway gene polymorphisms, angiotensin converting enzyme (ACE), angiotensinogen (AGT), and angiotensin receptor type 1 (AGTR1) with risk and disease severity in Asian Indian idiopathic cardiomyopathy patients. The case-control study was conducted in 400 cardiomyopathy patients diagnosed with HCM, DCM, or restrictive cardiomyopathy (RCM) and 235 healthy controls. Read More

    Light-chain cardiac amyloidosis.
    Curr Probl Cancer 2017 Mar - Apr;41(2):144-156. Epub 2016 Nov 17.
    The Pauley Heart Center, Virginia Commonwealth University, Richmond, Virginia.
    Cardiac amyloidosis is an underrecognized condition, in which delays to diagnosis have great implications on management options, prognosis, and morbidity. Once cardiac tissue is infiltrated by amyloid fibrils, there is a cascade of pathologic changes that can display an array of clinical manifestations, from impaired relaxation of the ventricular myocardium to severe restrictive disease or even progressive systolic heart failure. Management is guided not only by recognizing the subtype of amyloidosis (primary, hereditary, and wild-type transthyretin amyloidosis), but also the clinical stage of the disease. Read More

    [Cardiomyopathy and ion channel diseases registry: the Szeged CardioGen Registry].
    Orv Hetil 2017 Jan;158(3):101-105
    II. Belgyógyászati Klinika és Kardiológiai Központ, Szegedi Tudományegyetem, Általános Orvostudományi Kar Szeged, Semmelweis u. 8., 6725.
    The Szeged cardiomyopathy and ion channel diseases registry aims to establish a representative disease-specific registry based on the recruitment of patients with different cardiomyopathies and ion channel diseases followed at the Cardiology Center, University of Szeged. The registry collects patient data on the main forms of primary cardiomyopathies (hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, left ventricular non-compact, tako-tsubo cardiomyopathy) and ion channel diseases (long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia). Patients with hypertrophic cardiomyopathy (388 patients) make up the largest group of patients in the registry. Read More

    Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics.
    Sci Rep 2017 Jan 18;7:39276. Epub 2017 Jan 18.
    Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, U.S.A.
    Pediatric restrictive cardiomyopathy (RCM) is a genetically heterogeneous heart disease with limited therapeutic options. RCM cases are largely idiopathic; however, even within families with a known genetic cause for cardiomyopathy, there is striking variability in disease severity. Although accumulating evidence implicates both gene expression and alternative splicing in development of dilated cardiomyopathy (DCM), there have been no detailed molecular characterizations of underlying pathways dysregulated in RCM. Read More

    Clinical features and three-year outcomes of Takotsubo (stress) cardiomyopathy: Observational data from one center.
    Hellenic J Cardiol 2016 Nov 16. Epub 2016 Nov 16.
    Department of Radiology, Nuclear Medicine and Medical Physics, Vilnius University, Lithuania.
    Objective: The natural history, management, and outcome of Takotsubo (stress) cardiomyopathy (TTC) is not clear. The aim of this study was to investigate clinical features, define prognostic predictors, and assess the clinical course and outcomes of patients with TTC.

    Methods: We analyzed 64 patients (52 women) meeting the proposed Mayo Clinic diagnostic criteria for TTC. Read More

    J Zoo Wildl Med 2016 Dec;47(4):1101-1104
    Echocardiography is an established and noninvasive diagnostic tool used in herpetologic cardiology. Various cardiac lesions have been previously described in reptiles with the exception of restrictive cardiomyopathy. In this case report, restrictive cardiomyopathy and congestive heart failure associated with left atrial and sinus venosus dilation were diagnosed in a 2-yr-old captive lethargic McDowell's carpet python ( Morelia spilota mcdowelli), based on echocardiographic, Doppler, and histopathologic examinations. Read More

    The key clues to reach the diagnosis of Loeffler endomyocardial fibrosis associated with eosinophilic granulomatosis with polyangiitis.
    J Cardiovasc Med (Hagerstown) 2017 Jan 7. Epub 2017 Jan 7.
    a'De Gasperis' Cardio Center bRadiology Department Niguarda Hospital, Milan, Italy.
    Loeffler endomyocardial fibrosis is a rare restrictive cardiomyopathy due to chronic eosinophilic exposure (Loeffler endomyocarditis). Loeffler endomyocarditis is associated with different eosinophilic disorders, including eosinophilic granulomatosis with polyangiitis (EGPA). These images recapitulate all typical findings that can be observed in patients presenting with heart failure attributable to this specific cardiomyopathy associated with EGPA, a systemic medical condition that can be easily detectable just putting together different diagnostic elements. Read More

    Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies.
    Front Physiol 2016 19;7:629. Epub 2016 Dec 19.
    Department of Biomedical Science, Charles E. Schmidt College of Medicine, Florida Atlantic University Boca Raton, FL, USA.
    Cardiac troponin I (cTnI) plays a critical role in regulation of cardiac function. Studies have shown that the deficiency of cTnI or mutations in cTnI (particularly in the C-terminus of cTnI) results in diastolic dysfunction (impaired relaxation) due to an increased myofibril sensitivity to calcium. The first clinical study revealing the association between restrictive cardiomyopathy (RCM) with cardiac troponin mutations was reported in 2003. Read More

    Severe Left Ventricular Endomyocardial Fibrosis Presenting as Biventricular Failure in a Young Adult: A Case Report.
    J Clin Diagn Res 2016 Nov 1;10(11):OD05-OD06. Epub 2016 Nov 1.
    Consulting Cardiologist, Department of Cardiology, Prince Aly Khan Hospital , Nesbit Road, Mazgaon, Mumbai, Maharashtra, India .
    Endomyocardial Fibrosis (EMF) is a form of progressive restrictive cardiomyopathy of unclear aetiology prevalent in areas within 15(0) of equator including coastal areas of Kerala a few decades back. It inflicts young adults and carries a poor prognosis due to limited options for treatment. Fortunately, the incidence of cases is now declining due to improvement in health and hygiene standards. Read More

    Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family.
    Chin Med Sci J 2016 Mar;31(1):1-7
    Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
    Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy (RCM) in a Chinese family.Methods Next generation sequencing was used for detecting the mutation and Results verified by sequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelated normal subjects without any cardiac inherited diseases when the mutation was identified. Read More

    'End-stage' heart failure therapy: potential lessons from congenital heart disease: from pulmonary artery banding and interatrial communication to parallel circulation.
    Heart 2017 Feb 23;103(4):262-267. Epub 2016 Dec 23.
    Pediatric Heart Center, Justus Liebig University Giessen, Virginia Commonwealth University, School of Pharmacy, Richmond, Virginia, USA.
    The final therapy of 'end-stage heart failure' is orthotopic heart, lung or heart-lung transplantation. However, these options are not available for many patients worldwide. Therefore, novel therapeutical strategies are needed. Read More

    Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.
    J Am Coll Cardiol 2016 Dec;68(25):2871-2886
    Department of Genetics, Harvard Medical School, Boston, Massachusetts; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts; Howard Hughes Medical Institute, Chevy Chase, Maryland. Electronic address:
    Over the last quarter-century, there has been tremendous progress in genetics research that has defined molecular causes for cardiomyopathies. More than a thousand mutations have been identified in many genes with varying ontologies, therein indicating the diverse molecules and pathways that cause hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies. Translation of this research to the clinic via genetic testing can precisely group affected patients according to molecular etiology, and identify individuals without evidence of disease who are at high risk for developing cardiomyopathy. Read More

    The Use of Berlin Heart EXCOR VAD in Children Less than 10 kg: A Single Center Experience.
    Front Physiol 2016 6;7:614. Epub 2016 Dec 6.
    Department of Pediatric Cardiology and Cardiac Surgery, Pediatric Hospital Bambino Gesù Rome, Italy.
    Objective: Despite the improvement in ventricular assist device (VAD) therapy in adults and in adolescents, in infant population only Berlin Heart EXCOR (BHE) is licensed as long term VAD to bridge children to Heart Transplantation (HTx). Particularly demanding in terms of morbidity and mortality are smallest patients namely the ones implanted in the first year of life or with a lower body surface area. This work aims at retrospective reviewing a single center experience in using BHE in children with a body weight under 10 kg. Read More

    MY APPROACH to the evaluation of restrictive cardiomyopathy.
    Trends Cardiovasc Med 2017 Jan 9;27(1):74-75. Epub 2016 Sep 9.
    Cardiologist at Cleveland Clinic Florida, Weston, FL; Director of the Center for the Diagnosis and Treatment of Pericardial Diseases and a staff cardiologist in the Section of Cardiovascular Imaging, Department of Cardiovascular Medicine, Heart & Vascular Institute of Cleveland Clinic, Cleveland, OH. Electronic address:

    Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
    J Am Coll Cardiol 2016 Dec;68(22):2440-2451
    Instituto de Investigación Biomédica (INIBIC), A Coruña, Spain; Health in Code SL, A Coruña, Spain.
    Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. Read More

    New and Evolving Concepts Regarding the Prognosis and Treatment of Cardiac Amyloidosis.
    Curr Heart Fail Rep 2016 Dec;13(6):267-272
    Clinica Medica II, Department of Internal Medicine, University of Pavia, P. le Golgi 19, 27100, Pavia, Italy.
    Systemic amyloidoses are rare and proteiform diseases, caused by extracellular accumulation of insoluble misfolded fibrillar proteins. Prognosis is dictated by cardiac involvement, which is especially frequent in light chain (AL) and in transthyretin variants (ATTR, both mutated, (ATTRm), and wild-type, (ATTRwt)). Recently, ATTRwt has emerged as a potentially relevant cause of a heart failure with preserved ejection fraction (HFpEF). Read More

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