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    1816 results match your criteria Cardiomyopathy Restrictive

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    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

    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.).

    Senile Cardiac Amyloidosis: Clinical manifestations and non-invasive diagnostic approach.
    Hellenic J Cardiol 2017 Feb 2. Epub 2017 Feb 2.
    Department of Cardiology, General Hospital of Chalkida, Chalkida, Greece.
    Cardiac amyloidosis (CA) refers to an uncommon storage disease leading to restrictive cardiomyopathy and conduction abnormalities. Survival is generally poor but depends strongly on the amyloid type. Wild type transthyretin amyloidosis or senile cardiac amyloidosis (SCA) is a disease of the >60-year age group, has a relatively better prognosis among the various amyloid types and is considered to be underdiagnosed. Read More

    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 2016 Nov 17. 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

    Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development.
    Front Physiol 2016 15;7:520. Epub 2016 Nov 15.
    Department of Neurobiology, Physiology, and Behavior, University of California, DavisDavis, CA, USA; Department of Physiology and Membrane Biology, University of California, DavisDavis, CA, USA.
    Mutations in human cardiac troponin I (cTnI) have been associated with restrictive, dilated, and hypertrophic cardiomyopathies. The most commonly occurring residue on cTnI associated with familial hypertrophic cardiomyopathy (FHC) is arginine (R), which is also the most common residue at which multiple mutations occur. Two FHC mutations are known to occur at cTnI arginine 204, R204C and R204H, and both are associated with poor clinical prognosis. Read More

    Diagnosis and Management of Endomyocardial Fibrosis.
    Cardiol Clin 2017 Feb;35(1):87-98
    Chronic and Non-Communicable Disease Division, National Health Institutes and Eduardo Mondlane University, Avenida do Zimbábew, Maputo, Mozambique.
    Endomyocardial fibrosis (EMF) remains an important cause of restrictive cardiomyopathy worldwide. Patients cluster in specific geographic locations and are almost universally living in extreme poverty. Specific etiology remains elusive and is likely multifactorial. Read More

    Urgent listing exceptions and outcomes in pediatric heart transplantation: Comparison to standard criteria patients.
    J Heart Lung Transplant 2017 Mar 1;36(3):280-288. Epub 2016 Oct 1.
    Nemours Cardiac Center, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA; Departments of Surgery and Pediatrics, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
    Background: United Network for Organ Sharing (UNOS) policy enables listing exceptions to avoid penalizing patients with waitlist mortality not captured by standard criteria. Outcomes among patients listed by exception have not been analyzed.

    Methods: We performed a retrospective analysis of pediatric (≤17 years of age, n = 4,706) listings (2006 to 2015) for primary, isolated heart transplantation within the UNOS data set, assessing Status 1A exception (n = 211, 4. Read More

    Differentiation of Constriction and Restriction: Complex Cardiovascular Hemodynamics.
    J Am Coll Cardiol 2016 Nov;68(21):2329-2347
    Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
    Differentiation of constrictive pericarditis (CP) from restrictive cardiomyopathy (RCM) is a complex and often challenging process. Because CP is a potentially curable cause of heart failure and therapeutic options for RCM are limited, distinction of these 2 conditions is critical. Although different in regard to etiology, prognosis, and treatment, CP and RCM share a common clinical presentation of predominantly right-sided heart failure, in the absence of significant left ventricular systolic dysfunction or valve disease, due to impaired ventricular diastolic filling. Read More

    Loeffler endocarditis in young woman - a case report.
    Pol Merkur Lekarski 2016 Nov;41(245):231-237
    Department of Clinical Pharmacology of Kharkiv National Medical University, Kharkiv, Ukraine.
    Loeffler endocarditis is a rare acquired endocardial and myocardial disease characterized by a sharp decrease in the compliance of either or both ventricles with an acute diastolic dysfunction and massive mural thrombosis. This disease is presented in the classification of cardiomyopathies and is a variant of restrictive cardiomyopathy. Today Loeffler endocarditis is considered as a manifestation of hypereosinophilic syndrome with predominant heart involvement. Read More

    Utility of Echocardiography in the Assessment of Left Ventricular Diastolic Function and Restrictive Physiology in Children and Young Adults with Restrictive Cardiomyopathy: A Comparative Echocardiography-Catheterization Study.
    Pediatr Cardiol 2016 Nov 23. Epub 2016 Nov 23.
    The Heart Institute, Cincinnati Children's Hospital, 3333 Burnet Ave, MLC 2003, Cincinnati, OH, 45229-2003, USA.
    The aim of the study is to determine the utility of echocardiography in the assessment of diastolic function in children and young adults with restrictive cardiomyopathy (RCM). RCM is a rare disease with high mortality requiring frequent surveillance. Accurate, noninvasive echocardiographic measures of diastolic function may reduce the need for invasive catheterization. Read More

    Hereditary Amyloidosis with Recurrent Lung Infiltrates.
    Am J Case Rep 2016 Nov 22;17:874-879. Epub 2016 Nov 22.
    Department of Medicine, Divisions of Pulmonary and Critical Care Medicine, Westchester Medical Center, New York Medical College, Valhalla, NY, USA.
    BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Read More

    Coexistence of apical hypertrophic cardiomyopathy and endomyocardial fibrosis with calcification: diagnosis using multimodality imaging.
    ESC Heart Fail 2016 Dec 28;3(4):278-281. Epub 2016 Jul 28.
    Aurora Cardiovascular Services.
    A 48-year-old man from West Africa was evaluated for dyspnea. Echocardiography showed an echolucent mass at the left ventricular apex surrounded by a dense ridge of tissue, suggesting endomyocardial fibrosis (EMF). Doppler echocardiography showed restrictive hemodynamics and intramyocardial coronary blood flow at the hypertrophied apex, suggesting apical hypertrophic cardiomyopathy (ApHCM) with calcified thrombus. Read More

    Positive predictive value of cardiovascular diagnoses in the Danish National Patient Registry: a validation study.
    BMJ Open 2016 Nov 18;6(11):e012832. Epub 2016 Nov 18.
    Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus N, Denmark.
    Objective: The majority of cardiovascular diagnoses in the Danish National Patient Registry (DNPR) remain to be validated despite extensive use in epidemiological research. We therefore examined the positive predictive value (PPV) of cardiovascular diagnoses in the DNPR.

    Design: Population-based validation study. Read More

    Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer.
    Wien Klin Wochenschr 2016 Nov 11. Epub 2016 Nov 11.
    Department of Cardiology, Campus Benjamin Franklin, Charité - Universitätsmedizin Berlin, Hindenburgdamm 30, 12200, Berlin, Germany.
    A 74-year-old female patient was referred to our department in 2015 with dyspnea, cough and dysphagia. She had been diagnosed with adenocarcinoma of the right breast in 1986 and underwent mastectomy. When she presented with a local recurrence in 1988, she was receiving high-voltage radiation therapy. Read More

    A case report of a giant right ventricular outflow tract in a young man.
    Medicine (Baltimore) 2016 Nov;95(45):e5313
    Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
    Introduction: Localized pericardium restriction is a rare disease and likely to be unrecognized owing to the atypical manifestation, even after diagnostic avenues are exhausted. Recognizing the red flags of the disease could timely spark a preliminary suspicion of the disease and thus contribute to the early application of relevant examinations.

    Case Presentation: We will here report a case of a 21-year-old young man with a giant right ventricular outflow tract. Read More

    Insights into mildly dilated cardiomyopathy: temporal evolution and long-term prognosis.
    Eur J Heart Fail 2016 Nov 4. Epub 2016 Nov 4.
    Cardiovascular Department, 'Ospedali Riuniti' and University of Trieste, Trieste, Italy.
    Aims: Mildly dilated cardiomyopathy (MDCM) has been proposed as a subtype of dilated cardiomyopathy (DCM) characterized by systolic dysfunction in the absence of significant LV dilatation. Few data on the characteristics and outcomes of MDCM patients are available. We sought to assess the main features and the long-term natural history of MDCM. Read More

    Abrupt Onset of Refractory Heart Failure Associated With Light-Chain Amyloidosis in Hypertrophic Cardiomyopathy.
    JAMA Cardiol 2017 Jan;2(1):94-97
    Referral Center for Cardiomyopathies, Careggi University Hospital, Florence, Italy.
    Importance: The natural history of hypertrophic cardiomyopathy (HCM) is complex and may include progressive heart failure and severe left ventricular dysfunction. When disease progression is abrupt, however, other coexisting diseases should be ruled out. This may be difficult in the case of amyloidosis, which classically mimics HCM. Read More

    Active schistosomiasis, severe hypereosinophilia and rapid progression of chronic endomyocardial fibrosis.
    Cardiovasc J Afr 2016 Oct 23;27(5):e4-e6. Epub 2016 Oct 23.
    Eduardo Mondlane University, Maputo, Mozambique; Maputo Central Hospital, Mozambique.
    Endomyocardial fibrosis (EMF) is a neglected restrictive cardiomyopathy of unknown aetiology and unclear natural history, which causes premature deaths in endemic areas. We present the case of a 13-year-old boy from a highly endemic area, presenting with concurrent signs of chronic EMF and severe hypereosinophilia associated with active schistosomal cystitis. We discuss the possible role of this parasitic infection in determining the progression of EMF in endemic areas for both conditions. Read More

    Two-dimensional speckle tracking cardiac mechanics and constrictive pericarditis: systematic review.
    Echocardiography 2016 Oct 19;33(10):1589-1599. Epub 2016 Aug 19.
    Heart and Vascular Institute, Center for the Diagnosis and Treatment of Pericardial Diseases, Cleveland Clinic, Cleveland, OH, USA.
    Transthoracic echocardiography has a pivotal role in the diagnosis of constrictive pericarditis (CP). In addition to the classic M-mode, two-dimensional and Doppler indices, newer methodologies designed to evaluate myocardial mechanics, such as two-dimensional speckle tracking echocardiography (2DSTE), provide additional diagnostic and clinical information in the context of CP. Research has demonstrated that cardiac mechanics can improve echocardiographic diagnostic accuracy of CP and aid in differentiating between constrictive and restrictive ventricular physiology. Read More

    Leukemic infiltration presenting as myocardial hypertrophy after complete remission of acute myeloid leukemia.
    Echocardiography 2017 Jan 25;34(1):136-138. Epub 2016 Oct 25.
    Cardiovascular Center, College of Medicine, Seoul St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
    Here, we report a rare case of isolated leukemic infiltrate of the myocardium (extramedullary involvement) presenting as restrictive cardiomyopathy in a patient in complete remission of acute myeloid leukemia. It was evaluated with multimodality imaging studies (echocardiography and cardiac MRI) and further confirmed by pathology. The present case highlights the importance of maintaining a high degree of clinical suspicion when evaluating patients with progressive ventricular hypertrophy of unknown cause, including recognition of the potential involvement by recurrent hematologic malignancy. Read More

    Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.
    PLoS One 2016;11(9):e0163362. Epub 2016 Sep 23.
    Almazov Federal Medical Research Centre, St. Petersburg, 197341, Russia.
    Background: Cardiomyopathies represent a rare group of disorders often of genetic origin. While approximately 50% of genetic causes are known for other types of cardiomyopathies, the genetic spectrum of restrictive cardiomyopathy (RCM) is largely unknown. The aim of the present study was to identify the genetic background of idiopathic RCM and to compile the obtained genetic variants to the novel signalling pathways using in silico protein network analysis. Read More

    NT-proBNP in Children With Left to Right Shunt and Dilated Cardiomyopathy.
    Iran J Pediatr 2016 Jun 15;26(3):e4485. Epub 2016 May 15.
    Faculty of Medicine, Cairo University, Cairo, Egypt.
    Background: B-type natriuretic peptide (BNP) levels are elevated in children with congenital heart disease involving a left-to-right shunt (LRS) and are also raised in dilated cardiomyopathy (DCM). As far as we know, there are few reports in the literature comparing the change of the NT-proBNP in LRS and DCM especially in the pediatric age group.

    Objectives: The aim of the study was to compare the changes of the NT-proBNP in pediatric patients with LRS and DCM. Read More

    Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
    Am J Med Genet A 2016 Dec 8;170(12):3241-3248. Epub 2016 Sep 8.
    Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warsaw, Poland.
    Restrictive cardiomyopathy is a rare form of pediatric cardiac disease, for which the known genes include MYH7, TNNT2, TNNI3, ACTC1, and DES. We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c. Read More

    Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.
    J Biol Chem 2016 Oct 24;291(41):21817-21828. Epub 2016 Aug 24.
    From the Department of Cell and Molecular Physiology, Health Sciences Division, Loyola University Chicago, Maywood, Illinois 60153
    The cardiac troponin I (cTnI) R145W mutation is associated with restrictive cardiomyopathy (RCM). Recent evidence suggests that this mutation induces perturbed myofilament length-dependent activation (LDA) under conditions of maximal protein kinase A (PKA) stimulation. Some cardiac disease-causing mutations, however, have been associated with a blunted response to PKA-mediated phosphorylation; whether this includes LDA is unknown. Read More

    Immunoglobulin light chain amyloidosis: 2016 update on diagnosis, prognosis, and treatment.
    Am J Hematol 2016 Sep;91(9):947-56
    Division of Hematology, Mayo Clinic, Rochester, Minnesota.
    Disease Overview: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic failure, peripheral/autonomic neuropathy, and atypical multiple myeloma.

    Diagnosis: Tissue biopsy stained with Congo red demonstrating amyloid deposits with applegreen birefringence is required for diagnosis. Read More

    A rare chronic constrictive pericarditis with localized adherent visceral pericardium and normal parietal pericardium: a case report.
    Front Med 2016 Sep 7;10(3):356-9. Epub 2016 Sep 7.
    Department of Cardiology, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan, 250014, China.
    Classic constrictive pericarditis (CP) is characterized by fibrous scarring and adhesion of both the visceral pericardium and the parietal pericardium, which leads to restricted cardiac filling. However, diagnosing CP with normal thickness pericardium and without calcification is still a challenge. The predominant cause in the developed world is idiopathic or viral pericarditis followed by post-cardiac surgery and post-radiation. Read More

    Mitochondrial Cardiomyopathies.
    Front Cardiovasc Med 2016 25;3:25. Epub 2016 Jul 25.
    Department of Molecular and Human Genetics, Baylor College of Medicine , Houston, TX , USA.
    Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA). Read More

    Sickle cell anemia mice develop a unique cardiomyopathy with restrictive physiology.
    Proc Natl Acad Sci U S A 2016 Aug 8;113(35):E5182-91. Epub 2016 Aug 8.
    Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229; Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229; Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229;
    Cardiopulmonary complications are the leading cause of mortality in sickle cell anemia (SCA). Elevated tricuspid regurgitant jet velocity, pulmonary hypertension, diastolic, and autonomic dysfunction have all been described, but a unifying pathophysiology and mechanism explaining the poor prognosis and propensity to sudden death has been elusive. Herein, SCA mice underwent a longitudinal comprehensive cardiac analysis, combining state-of-the-art cardiac imaging with electrocardiography, histopathology, and molecular analysis to determine the basis of cardiac dysfunction. Read More

    A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies.
    Front Cardiovasc Med 2016 21;3:21. Epub 2016 Jul 21.
    Adult Medical Genetics Program, Cardiovascular Institute, University of Colorado Denver , Aurora, CO , USA.
    Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN, the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allows a large number of genes to be sequenced simultaneously and provides the opportunity to easily analyze giant genes such as TTN. Read More

    Echocardiography and Alternative Cardiac Imaging Strategies for Long-Term Cardiotoxicity Surveillance of Cancer Survivors Treated with Chemotherapy and/or Radiation Exposure.
    Curr Oncol Rep 2016 Aug;18(8):52
    Non-Invasive Cardiology Laboratories, Division of Cardiology, UCLA Medical Center, 757 Westwood Plaza, Los Angeles, CA, 90095, USA.
    Cardiotoxicity from chemotherapy is a leading cause of morbidity and mortality in cancer survivors. Cardiotoxic effects include left ventricular systolic dysfunction, coronary artery disease, hypertension, bradycardia, arrhythmias, pericardial disease, valvular disease, and radiation-induced restrictive cardiomyopathy. Noninvasive cardiac imaging has been at the forefront of detecting cardiotoxicity in patients receiving chemotherapeutic agents known to adversely affect cardiac structure and function. Read More

    Pathological Features and Pathogenesis of the Endomyocardial Form of Restrictive Cardiomyopathy in Cats.
    J Comp Pathol 2016 Aug-Oct;155(2-3):190-8. Epub 2016 Jul 5.
    Laboratory of Veterinary Clinical Oncology, Tokyo University of Agriculture and Technology, 3-5-8 Saiwai-cho, Fuchu, Tokyo, Japan. Electronic address:
    This study reports pathological and molecular features in 41 cases of feline restrictive cardiomyopathy (RCM). Grossly, there were patchy or diffuse areas of endocardial thickening affecting the left ventricle. The more common patchy endocardial lesions occurred as large trabecular or irregular broad bands of fibrous tissue bridging the left ventricular free wall and ventricular septum. Read More

    Successful orthotopic heart transplantation using a donor heart with ALCAPA.
    Pediatr Transplant 2016 Sep 6;20(6):859-65. Epub 2016 Jul 6.
    Cardiac Services, Great Ormond Street Hospital for Children, London, UK.
    With the imbalance between donation rates and potential recipients growing, transplant programs are increasingly using non-ideal organs from so-called marginal donors. This is the first reported case of the intentional use of a donor heart with ALCAPA. The recipient was aged one yr with restrictive cardiomyopathy who had been supported with BiVAD for over six months. Read More

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