2,024 results match your criteria Cardiomyopathy Restrictive


Waitlist Mortality of Amyloid Cardiomyopathy Patients Listed for Heart Transplantation and Implications for Organ Allocation.

J Card Fail 2019 Apr 21. Epub 2019 Apr 21.

Department of Harrington Heart and Vascular Institute, University Hospitals Cleveland Medical Center, Cleveland, OH, United States. Electronic address:

Background: While outcomes of patients with amyloid cardiomyopathy (ACM) undergoing heart transplantation have been reported, there is scant data on the waitlist mortality of these patients. The aim of this study was to investigate whether patients with amyloid cardiomyopathy have higher waitlist mortality compared to those with other types of cardiomyopathies.

Methods: We queried the United Network for Organ Sharing (UNOS) registry for all patients (age ≥ 18 years) listed for heart transplantation between 2008 and 2015. Read More

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http://dx.doi.org/10.1016/j.cardfail.2019.04.011DOI Listing
April 2019
2 Reads

Loeffler's endocarditis with isolated left ventricular involvement on cardiac MRI.

BMJ Case Rep 2019 Apr 20;12(4). Epub 2019 Apr 20.

Department of Cardiovascular Radiology and Endovascular Interventions, All India Institute of Medical Sciences, New Delhi, Delhi, India.

Loeffler endocarditis is an uncommon restrictive cardiomyopathy associated with eosinophilia and endomyocardial fibrosis causing diastolic restriction, predominantly involving the right ventricle. Cardiac MRI plays a crucial role in early detection of disease. Early disease usually responds well to corticosteroids. Read More

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http://dx.doi.org/10.1136/bcr-2018-227642DOI Listing

MYH7 mutation identified by next-generation sequencing in three infant siblings with bi-ventricular noncompaction presenting with restrictive hemodynamics: A report of three siblings with a severe phenotype and poor prognosis.

J Cardiol Cases 2019 Apr 11;19(4):140-143. Epub 2019 Feb 11.

Department of Pediatrics, Hirosaki University School of Medicine and Graduate School of Medicine, Hirosaki, Japan.

Noncompaction of the ventricular myocardium (NVM) is a genetically heterogeneous cardiomyopathy. Various mutations associated with NVM have been identified in several genes. NVM patients usually present with complications of dilated cardiomyopathy. Read More

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http://dx.doi.org/10.1016/j.jccase.2018.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451088PMC
April 2019
2 Reads

Heart failure in cardiomyopathies: a position paper from the Heart Failure Association of the European Society of Cardiology.

Eur J Heart Fail 2019 Apr 16. Epub 2019 Apr 16.

Berlin-Brandenburg Center for Regenerative Therapies, Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK) Berlin, Department of Cardiology, Campus Virchow Klinikum, Charite - Universitaetsmedizin Berlin, Berlin, Germany.

Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural history of HF in cardiomyopathies is limited, and distinct features of their therapeutic responses have not been systematically addressed. Therefore, this position paper focuses on epidemiology, pathophysiology, natural history and latest developments in treatment of HF in patients with dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathies. Read More

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http://dx.doi.org/10.1002/ejhf.1461DOI Listing
April 2019
2 Reads
6.526 Impact Factor

[Treatment of AL amyloidosis].

Nephrol Ther 2019 Apr;15 Suppl 1:S115-S121

Service de néphrologie et transplantation, CHU de Poitiers, 2, rue de la Milétrie, 86021 Poitiers, France; Centre de référence « Amylose AL et autres maladies par dépôt d'immunoglobulines monoclonales », 2, rue de la Milétrie, 86021 Poitiers, France.

AL amyloidosis is caused by the conversion of monoclonal immunoglobulin light chains into amyloid fibrillar aggregates that deposit in tissue and lead to organ dysfunction. Diagnosis is histological and relies primarily on non-invasive biopsies, showing Congo red-positive amorphous deposits containing immunoglobulin light chains, most commonly of lambda isotype. The clinical presentation is extremely polymorphous, due to the large number of organs that can be affected by the disease. Read More

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http://dx.doi.org/10.1016/j.nephro.2019.03.002DOI Listing
April 2019
1 Read

Cardiac amyloidosis: A case report and review of literature.

World J Clin Cases 2019 Mar;7(6):742-752

Department of Cardiovascular Sciences, East Carolina Heart Institute, East Carolina University, Greenville, NC 27834, United States.

Background: Cardiac amyloidosis, a disease caused by the precipitation of amyloid proteins in the myocardial extracellular matrix has been historically difficult to diagnose due to lack of specific clinical manifestations and necessity of biopsy to demonstrate amyloid deposition. However, advances in cardiovascular imaging techniques have facilitated earlier recognition of this disease. In addition, while once thought of as incurable, treatment strategies are emerging for cardiac amyloidosis, making early diagnosis essential. Read More

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http://dx.doi.org/10.12998/wjcc.v7.i6.742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6448069PMC
March 2019
1 Read

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).

BMC Med Genet 2019 Apr 5;20(1):61. Epub 2019 Apr 5.

Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Syggrou Av, 356, 176 74, Athens, Greece.

Background: Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.

Case Presentation: Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutation: NM_000363.4:c. Read More

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http://dx.doi.org/10.1186/s12881-019-0793-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451262PMC
April 2019
6 Reads

Cardiac amyloidosis as a rare cause of heart failure: A case report.

Medicine (Baltimore) 2019 Apr;98(14):e15036

Department of Echocardiography, The First Hospital of Jilin University, Changchun, China.

Rationale: Cardiac amyloidosis is a rare condition that is difficult to diagnose, because the clinical manifestations are often varied and nonspecific. The presence and degree of cardiac involvement are the main prognosis determinants, with a median survival of 6 months expected when presented with heart failure. Moreover, the optimal treatment for cardiac amyloidosis is still unclear. Read More

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http://dx.doi.org/10.1097/MD.0000000000015036DOI Listing
April 2019
1 Read

Clinical, epidemiological and echocardiographic features and prognostic factors in cats with restrictive cardiomyopathy: A retrospective study of 92 cases (2001-2015).

J Vet Intern Med 2019 Mar 28. Epub 2019 Mar 28.

U955-IMRB, INSERM, École Nationale Vétérinaire d'Alfort, UPEC, Maisons-Alfort Cedex, France.

Background: Restrictive cardiomyopathy (RCM) is a common primary cardiomyopathy of cats. However, little information is available regarding prognostic variables in large populations of cats with RCM.

Objectives: To characterize the epidemiological, clinical, and echocardiographic features of cats with RCM and to document their survival times and risk factors for cardiac death (CD). Read More

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http://dx.doi.org/10.1111/jvim.15464DOI Listing
March 2019
1 Read

[Mitral Regurgitation Repaired by Papillary Heads Optimization Technique].

Kyobu Geka 2019 Mar;72(3):184-189

Department of Cardiovascular Surgery, Kagoshima University Hospital, Kagoshima, Japan.

Functional mitral regurgitation( FMR) is a risk factor that increases the mortality rate and incidence of heart failure. Surgical intervention is important. Mitral valve (MV) reconstruction can preserve the valvular apparatus;no anticoagulation therapy is required, left ventricular function is preserved. Read More

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March 2019
1 Read

Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy.

Circ Genom Precis Med 2019 Mar;12(3):e002388

Cardiology Department, Hereditary Cardiopathies Unit (A.R.-S., J.P.-D., R.S.-B., F.A.-Y.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002388DOI Listing
March 2019
1 Read

Endocardial fibrosis complicated with a great amount of fat accumulation in subendocardium: a rare form of restrictive cardiomyopathy.

Eur Heart J 2019 Mar 25. Epub 2019 Mar 25.

Department of Ultrasound, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Avenue, Wuhan, China.

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http://dx.doi.org/10.1093/eurheartj/ehz162DOI Listing
March 2019
2 Reads

Epigenetic regulation of phosphodiesterase 4d in restrictive cardiomyopathy mice with cTnI mutations.

Sci China Life Sci 2019 Mar 12. Epub 2019 Mar 12.

Department of Cardiology, Heart Centre, Children's Hospital of Chongqing Medical University; Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing, 400014, China.

Epigenetic regulations play an important role in disease development. In this study, we have investigated epigenetic regulations in restrictive cardiomyopathy mice with cTnI 193His mutation. Our results demonstrated that phosphodiesterase (PDEs) 4d was down-regulated in the heart of these mice. Read More

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http://dx.doi.org/10.1007/s11427-018-9463-9DOI Listing
March 2019
1 Read

Transcatheter left atrial decompression in patients with dilated cardiomyopathy: bridging to cardiac transplantation or recovery.

Cardiol Young 2019 Mar 26;29(3):355-362. Epub 2019 Feb 26.

1Hessen Pediatric Heart Center,Justus Liebig University Clinic Giessen,Giessen,Germany.

Background: Left atrial congestion results from backward failure in dilated cardiomyopathy. We aimed to evaluate feasibility and efficacy of percutaneous atrioseptostomy to create a restrictive atrial septum defect in management of dilated cardiomyopathy.Methods and resultsFrom June 2009 to December 2016, 27 interventions comprised left atria decompressions in 22 dilated cardiomyopathy patients; 9 females; age: 24 days to 36. Read More

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http://dx.doi.org/10.1017/S1047951118002433DOI Listing
March 2019
10 Reads
0.857 Impact Factor

Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis.

J Clin Neuromuscul Dis 2019 Mar;20(3):120-128

Division of Neuropathology, Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY.

Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, autonomic dysfunction, and restrictive cardiomyopathy associated with deposition of amyloid fibrils in these tissues. Despite advances in management over the past decade, this disorder causes profound debilitation and ultimately proves fatal. In this report, we describe a man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic transthyretin production. Read More

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http://dx.doi.org/10.1097/CND.0000000000000242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392216PMC
March 2019
1 Read

A case of Loeffler's endocarditis after initiation of adalimumab.

J Community Hosp Intern Med Perspect 2019 11;9(1):29-32. Epub 2019 Feb 11.

Department of Critical Care/Pulmonary Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL, USA.

Tumor necrosis factor antagonists (anti-TNF) are increasingly prescribed as maintenance therapy for a variety of autoimmune conditions. Therefore, frequent monitoring and awareness of side effects are of the utmost importance. Adalimumab is known to cause peripheral eosinophilia, but there are few reports of more severe adverse events. Read More

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http://dx.doi.org/10.1080/20009666.2018.1562852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374942PMC
February 2019
5 Reads

An Unusual Case of Tricuspid Stenosis.

Eur J Case Rep Intern Med 2018 24;5(4):000836. Epub 2018 Apr 24.

Internal Medicine Department, Centro Hospitalar de São João, Porto, Portugal.

Tricuspid stenosis is an uncommon valvular abnormality commonly associated with other valvular lesions. Ebstein's anomaly is a rare congenital heart malformation characterized primarily by abnormalities of the tricuspid valve and right ventricle. Endomyocardial fibrosis is a restrictive cardiomyopathy observed in tropical and subtropical regions. Read More

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http://dx.doi.org/10.12890/2018_000836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346752PMC
April 2018
1 Read

Hereditary heart disease: pathophysiology, clinical presentation, and animal models of HCM, RCM, and DCM associated with mutations in cardiac myosin light chains.

Pflugers Arch 2019 May 31;471(5):683-699. Epub 2019 Jan 31.

Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, 1600 NW 10th Ave., Miami, FL, 33136, USA.

Genetic cardiomyopathies, a group of cardiovascular disorders based on ventricular morphology and function, are among the leading causes of morbidity and mortality worldwide. Such genetically driven forms of hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies are chronic, debilitating diseases that result from biomechanical defects in cardiac muscle contraction and frequently progress to heart failure (HF). Locus and allelic heterogeneity, as well as clinical variability combined with genetic and phenotypic overlap between different cardiomyopathies, have challenged proper clinical prognosis and provided an incentive for identification of pathogenic variants. Read More

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http://dx.doi.org/10.1007/s00424-019-02257-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476665PMC
May 2019
2 Reads
4.101 Impact Factor

Light chain cardiac amyloidosis - a rare cause of heart failure in a young adult.

Rev Assoc Med Bras (1992) 2018 Sep;64(9):787-790

. Department of Cardiology, Hospital Distrital de Santarém, Santarém, Portugal.

Cardiac amyloidosis is an infiltrative cardiomyopathy, resulting from amyloid deposition within the myocardium. In primary systemic (AL-type) amyloidosis, the amyloid protein is composed of light chains resulting from plasma-cell dyscrasia, and cardiac involvement occurs in up to 50% of the patients We present a case of a 43-year-old man, with complaints of periodical swollen tongue and xerostomia, bleeding gums and haematuria for two months. His blood results showed normocytic anaemia, thrombocytopenia and a high spontaneous INR, therefore he was referred to the Internal Medicine clinic. Read More

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http://dx.doi.org/10.1590/1806-9282.64.09.787DOI Listing
September 2018
5 Reads

Indications and diagnostic yield of endomyocardial biopsies for unexplained cardiomyopathy, a single center experience.

Acta Cardiol 2019 Jan 16:1-9. Epub 2019 Jan 16.

a Department of Cardiology , Ziekenhuis Oost-Limburg , Genk , Belgium.

Background: Endomyocardial biopsies (EMBs) remain the golden standard to diagnose underlying pathophysiologic process in heart failure (HF), when potential therapeutic decisions cannot be made by non-invasive techniques. However, changes in the field of non-invasive diagnostic testing might have an impact on the need for performing an EMB in certain scenarios.

Methods: We performed a retrospective analysis of consecutive EMBs performed in a single, non-academic, tertiary-care centre. Read More

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http://dx.doi.org/10.1080/00015385.2018.1561597DOI Listing
January 2019
3 Reads

Characteristic clinical and ultrastructural findings in nesprinopathies.

Eur J Paediatr Neurol 2019 Mar 29;23(2):254-261. Epub 2018 Dec 29.

Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.

Aims: To define the neurological and neuropathological alterations caused by SYNE1 mutations.

Methods: We describe 5 patients (3 males, 2 females; age 3-24 years) from 3 families. The diagnostic work-up included three muscle biopsies and two nerve biopsies in three of the cases. Read More

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http://dx.doi.org/10.1016/j.ejpn.2018.12.011DOI Listing
March 2019
4 Reads

Inborn Errors of Metabolism: Pseudoxanthoma Elasticum.

Adv Exp Med Biol 2018;1085:187-189

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Pseudoxanthoma elasticum (PXE) is an autosomal recessive multisystem disorder that involves the skin, GI tract, and heart, as well as the eye. It affects approximately 1 in 50,000 people worldwide and is seen twice as frequently in females as in males. Fundus findings include angioid streaks (Fig. Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_38
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http://dx.doi.org/10.1007/978-3-319-95046-4_38DOI Listing
January 2018
12 Reads

Noninvasive Multimodality Imaging for the Diagnosis of Constrictive Pericarditis.

Circ Cardiovasc Imaging 2018 Nov;11(11):e007878

Center for the Diagnosis and Treatment of Pericardial Diseases, Heart and Vascular Institute (B.X., V.M., A.K., P.C.C., A.L.K.), Cleveland Clinic, OH.

There is a need to review the multimodality imaging techniques, as well as the emerging role of the newer noninvasive imaging modalities in the field of constrictive pericarditis (CP). Therefore, the aim of this review is to summarize the current available techniques that are useful for the diagnosis and differentiation of CP from restrictive cardiomyopathy. Also, we provide illustrative images and videos of typical CP noninvasive imaging findings, as well as a diagnostic and management algorithm. Read More

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http://dx.doi.org/10.1161/CIRCIMAGING.118.007878DOI Listing
November 2018
11 Reads
5.316 Impact Factor

Amyloid Cardiomyopathy in the Emergency Department.

J Emerg Med 2019 Feb 13;56(2):205-209. Epub 2018 Dec 13.

Department of Emergency Medicine, Mount Sinai Medical Center, Miami Beach, Florida; Emergency Department Ultrasonography, Mount Sinai Medical Center, Miami Beach, Florida.

Background: Cardiac amyloidosis is an underdiagnosed cause of restrictive cardiomyopathy resulting from the infiltration of the myocardium by amyloid proteins.

Case Report: We report the case of an 83-year-old woman who presented with increasing dyspnea and lower-extremity swelling. She reported a medical history of unspecified heart failure. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07364679183104
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http://dx.doi.org/10.1016/j.jemermed.2018.10.023DOI Listing
February 2019
27 Reads

Contemporary Outcomes of Pediatric Restrictive Cardiomyopathy: A Single-Center Experience.

Pediatr Cardiol 2019 Apr 12;40(4):694-704. Epub 2018 Dec 12.

Cincinnati Children's Hospital Medical Center, Heart Institute, Cincinnati, OH, USA.

Background: Pediatric restrictive cardiomyopathy (RCM) has high mortality in historical cohorts, and traditional management often involves early referral for heart transplantation (HTx). This study sought to determine outcomes of pediatric RCM at a center that has favored medical management over early listing for HTx.

Methods: All patients (N = 43) with pure RCM phenotype (RCM, N = 26) and hypertrophic cardiomyopathy with restrictive physiology (RCM/HCM, N = 17) managed at our center over a 15-year period were investigated. Read More

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http://dx.doi.org/10.1007/s00246-018-2043-0DOI Listing
April 2019
1 Read

[Bone seeking tracers' scintigraphy for the diagnosis of transthyretin cardiac amyloidosis].

Medicina (B Aires) 2018 ;78(6):395-398

Sección Medicina Nuclear, Servicio de Diagnóstico por Imágenes, Instituto Cardiovascular de Buenos Aires (ICBA), Buenos Aires, Argentina.

Transthyretin cardiac amyloidosis (ATTR) is a restrictive cardiomyopathy that leads to heart failure in considerable number of patients. Early diagnosis allows specific treatment options. However, ATTR diagnosis is complex and requires invasive procedures. Read More

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January 2018
2 Reads

Role of Advanced Testing: Invasive Hemodynamics, Endomyocardial Biopsy, and Cardiopulmonary Exercise Testing.

Cardiol Clin 2019 Feb 29;37(1):73-82. Epub 2018 Oct 29.

Hypertrophic Cardiomyopathy Program, Cardiac Catheterization Laboratory, Westchester Medical Center, New York Medical College, 100 Woods Road, Macy Pavilion Room 106, Valhalla, NY 10595, USA.

Hypertrophic cardiomyopathy affects 0.5% of the population. Advanced testing is considered, including cardiac catheterization, endomyocardial biopsy, and cardiopulmonary exercise testing. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07338651183086
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http://dx.doi.org/10.1016/j.ccl.2018.08.010DOI Listing
February 2019
13 Reads
1.064 Impact Factor

Advanced Heart Failure Management and Transplantation.

Cardiol Clin 2019 Feb 29;37(1):105-111. Epub 2018 Oct 29.

Heart Transplant and Mechanical Circulatory Support, Division of Cardiology, Department of Medicine, Westchester Medical Center, New York Medical College, Macy Pavilion, Suite 100, 100 Woods Road, Valhalla, NY 10595, USA.

Hypertrophic cardiomyopathy is a genetic heart disease with heterogeneous clinical features, including progression to advanced heart failure. The development of these symptoms can be related to outflow obstruction but in some patients reflects an underlying process of fibrosis and progressive ventricular dysfunction. For patients with end-stage disease, traditional heart failure therapies have not proved beneficial. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07338651183086
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http://dx.doi.org/10.1016/j.ccl.2018.08.007DOI Listing
February 2019
24 Reads

[Cardiac complications of sickle cell disease in children].

Rev Med Liege 2018 Nov;73(11):550-556

Service de Pédiatrie, CHU de Liège, Belgique.

Sickle cell disease (SCD) is a genetic disorder due to an abnormal gene coding for the chain ? of the hemoglobin. The main clinical manifestations related to the major forms of SCD (SS-, SC-, and S-thalassemia) are chronic hemolysis, susceptibility to infections and vasoconstrictive crisis causing micro-emboli and/or infarction responsible for acute or chronic organ lesions. The latest are enhanced by tissue iron overload due to repeated blood transfusions. Read More

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November 2018
22 Reads

Pediatric acute ischemic stroke and restrictive cardiomyopathy, a challenge for anesthesiologists.

J Clin Anesth 2019 May 7;54:87-88. Epub 2018 Nov 7.

Department of Pediatric Anesthesiology at Westchester Medical Center, New York Medical College, Valhalla, NY. Electronic address:

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http://dx.doi.org/10.1016/j.jclinane.2018.10.039DOI Listing
May 2019
3 Reads

Sex-related differences in cardiomyopathies.

Int J Cardiol 2018 Oct 30. Epub 2018 Oct 30.

Institute of Cardiovascular Science, University College London and St. Bartholomew's Hospital, London, United Kingdom.

Cardiomyopathies (CMPs) are a heterogeneous group of heart muscle diseases with several different phenotypes defined as myocardial disorders in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular heart disease and congenital heart disease sufficient to explain the observed myocardial abnormality. CMPs can be classified into one of the following, i.e. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01675273183462
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http://dx.doi.org/10.1016/j.ijcard.2018.10.091DOI Listing
October 2018
23 Reads

Analysis of the TTR gene in the investigation of amyloidosis: A 25-year single UK center experience.

Hum Mutat 2019 Jan 1;40(1):90-96. Epub 2018 Nov 1.

National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, Division of Medicine, Royal Free Campus, UCL, London, UK.

Transthyretin amyloidosis (ATTR) is caused by deposition of either wild-type (ATTRwt) or variant (ATTRm) transthyretin. ATTRwt presents with restrictive cardiomyopathy, while ATTRm displays a range of organ involvement. This retrospective analysis includes all patients referred to a single UK center in the last 25 years for clinical and laboratory assessment of known or suspected amyloidosis who underwent TTR gene sequencing. Read More

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http://dx.doi.org/10.1002/humu.23669DOI Listing
January 2019
7 Reads

Role of cardiovascular imaging for the diagnosis and prognosis of cardiac amyloidosis.

Open Heart 2018 26;5(2):e000881. Epub 2018 Sep 26.

Cardiology Department, Division of Internal Medicine, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

Cardiac amyloidosis (CA) describes the pathological process of amyloid protein deposition in the extracellular space of the myocardium. Unfortunately, the diagnosis of CA is often made late and when the disease process is advanced. However, advances in cardiovascular imaging have allowed for better prognostication and establishing diagnostic pathways with high sensitivity and specificity. Read More

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http://dx.doi.org/10.1136/openhrt-2018-000881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6173267PMC
September 2018
8 Reads

Eosinophilic Granulomatosis with Polyangiitis (EGPA) with an Unusual Manifestation of Mid-Ventricular Obstruction Caused by Endocardial Thrombus.

Am J Case Rep 2018 Oct 8;19:1197-1203. Epub 2018 Oct 8.

Department of Cardiology, Osaka Medical College, Takatsuki, Osaka, Japan.

BACKGROUND Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis of unknown cause accompanied by prominent eosinophilia. Intracardiac thrombosis is one of the major cardiac complications in EGPA that may cause thromboembolism. CASE REPORT A 46-year-old male presenting with intermittent chest pain and numbness of the lower extremities was admitted to our center. Read More

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https://www.amjcaserep.com/abstract/index/idArt/910861
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http://dx.doi.org/10.12659/AJCR.910861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187986PMC
October 2018
12 Reads

The Arg192His mutation in a 13-year-old girl with left ventricular noncompaction.

J Cardiol Cases 2018 Jul 1;18(1):33-36. Epub 2018 Jul 1.

Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.

Left ventricular noncompaction (LVNC) is a distinct cardiomyopathy that is morphologically characterized by a two-layered myocardium, numerous prominent trabeculations, and deep intertrabecular recesses communicating with the left ventricular cavity. We present a case report regarding the identification of a new mutation in in a patient with LVNC using next-generation sequencing. A 13-year-old girl who had no family history of cardiac disease was hospitalized with dyspnea after exercise and electrocardiographic abnormalities during a school screening. Read More

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http://dx.doi.org/10.1016/j.jccase.2018.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6149604PMC
July 2018
6 Reads

Identification of a Novel Titin Variant Underlying Myocardial Involvement in Neurofibromatosis Type 1.

Can J Cardiol 2018 Oct 31;34(10):1369.e5-1369.e7. Epub 2018 Jul 31.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. Electronic address:

Because of the rare co-occurrence, it remains a question whether cardiomyopathy is a true association of neurofibromatosis type 1. A boy with café-au-lait spots manifested restrictive cardiomyopathy. Whole exome sequencing confirmed the genetic diagnosis of neurofibromatosis and further identified a novel titin (TTN) missense variant. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0828282X183099
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http://dx.doi.org/10.1016/j.cjca.2018.07.473DOI Listing
October 2018
4 Reads

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.

Hum Mutat 2018 Dec 22;39(12):2083-2096. Epub 2018 Oct 22.

Departments of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

Restrictive cardiomyopathy (RCM) is a rare and distinct form of cardiomyopathy characterized by normal ventricular chamber dimensions, normal myocardial wall thickness, and preserved systolic function. The abnormal myocardium, however, demonstrates impaired relaxation. To date, dominant variants causing RCM have been reported in a small number of sarcomeric or cytoskeletal genes, but the genetic causes in a majority of cases remain unexplained, especially in early childhood. Read More

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http://dx.doi.org/10.1002/humu.23661DOI Listing
December 2018
4 Reads
5.144 Impact Factor

Comparison of echocardiographic parameters in Fabry cardiomyopathy and light-chain cardiac amyloidosis.

Echocardiography 2018 11 24;35(11):1755-1763. Epub 2018 Sep 24.

Department of Cardiology, Dupuytren University Hospital, Limoges, France.

Background: Fabry cardiomyopathy (FC) and light-chain amyloid cardiomyopathy (AL) present with concentric left ventricular (LV) hypertrophy/remodeling and diastolic rather than systolic dysfunction. Direct comparisons are difficult due to rarity and confounded by variability of LV thickness.

Aims: To compare LV diastolic and systolic properties between patients with FC and AL in a cohort matched for interventricular septal thickness (IVS). Read More

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http://doi.wiley.com/10.1111/echo.14144
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http://dx.doi.org/10.1111/echo.14144DOI Listing
November 2018
27 Reads

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.

Neuromuscul Disord 2018 Nov 13;28(11):952-955. Epub 2018 Aug 13.

Pathology Department and Neuromuscular Unit, Bellvitge Biomedical Research Institute-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.

X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene. Female carriers are believed to be usually asymptomatic; nevertheless, recent reports have displayed a wide a spectrum of clinical involvement in females suggesting that MTM1 mutations might be underestimated in this population. Here we report a 55-year-old woman manifesting with an abrupt respiratory decline, whose respiratory function tests revealed a severe restrictive ventilatory defect. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.08.003DOI Listing
November 2018
4 Reads

Mind the Gap: Genetic Variation and Personalized Therapies for Cardiomyopathies.

Lifestyle Genom 2018 19;11(2):77-79. Epub 2018 Sep 19.

Department of Biology, University of Ottawa, Ottawa, Ontario, Canada.

Inherited cardiomyopathies are cardiovascular disorders that are one of the leading causes of death and are strongly associated with genetic mutations. These include hypertrophic, dilated, restrictive, as well as arrhythmogenic right ventricular cardiomyopathies. Among the patients presenting with these specific forms of cardiomyopathies, there is significant phenotypic, genotypic, and environmental heterogeneity. Read More

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http://dx.doi.org/10.1159/000493102DOI Listing
September 2018
4 Reads

Endomyocardial Fibrosis With End-Stage Heart Failure as a Consequence of a Myeloproliferative Neoplasm With Hypereosinophilia.

Can J Cardiol 2018 Sep 5;34(9):1233.e13-1233.e15. Epub 2018 Jun 5.

Pathology Department, Hospital de Santa Cruz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal; Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Forensic Pathology, Central Branch, Instituto Nacional de Medicina Legal e Ciências Forenses, Coimbra, Portugal.

Hypereosinophilic syndrome is characterized by an overproduction of eosinophils that infiltrate and damage multiple organs. Cardiac dysfunction occurs frequently and is a main cause of morbidity and mortality. We describe the case of a middle-aged man diagnosed with a myeloproliferative neoplasm associated with hypereosinophilia and treated with imatinib. Read More

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http://dx.doi.org/10.1016/j.cjca.2018.05.024DOI Listing
September 2018
22 Reads

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

J Transl Med 2018 08 30;16(1):241. Epub 2018 Aug 30.

McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Science & Peking Union Medical College, 5 Dong Dan San Tiao, Beijing, 100005, China.

Background: Cardiomyopathies are the most common clinical and genetic heterogeneity cardiac diseases, and genetic contribution in particular plays a major role in patients with primary cardiomyopathies. The aim of this study is to investigate cases of inherited cardiomyopathy (IC) for potential disease-causing mutations in 64 genes reported to be associated with IC.

Methods: A total of 110 independent cases or families diagnosed with various primary cardiomyopathies, including hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular non-compaction, and undefined cardiomyopathy, were collected after informed consent. Read More

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http://dx.doi.org/10.1186/s12967-018-1605-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117967PMC
August 2018
8 Reads
3.930 Impact Factor

Diastolic dysfunction evaluated by cardiac magnetic resonance: the value of the combined assessment of atrial and ventricular function.

Eur Radiol 2019 Mar 20;29(3):1555-1564. Epub 2018 Aug 20.

Dipartimento di Medicina Clinica e Sperimentale, University of Messina, Messina, Italy.

Objectives: We sought to evaluate the role of cardiac magnetic resonance imaging (CMR) in the evaluation of diastolic function by a combined assessment of left ventricular (LV) and left atrial (LA) function in a cohort of subjects with various degrees of diastolic dysfunction (DD) detected by echocardiography.

Methods: Forty patients with different stages of DD and 18 healthy controls underwent CMR. Short-axis cine steady-state free precession images covering the entire LA and LV were acquired. Read More

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http://dx.doi.org/10.1007/s00330-018-5571-3DOI Listing
March 2019
19 Reads

Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.

Eur J Heart Fail 2018 10 2;20(10):1417-1425. Epub 2018 Aug 2.

Cardiology, Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum, University of Bologna, Italy.

Aims: Cardiac amyloidosis remains a great challenge for the cardiologist. One of the three main aetiological forms, transthyretin-related hereditary amyloidosis (ATTRm), can present with several phenotypes, depending mainly on the specific mutation. We aimed to characterize the phenotype of patients with ATTRm due to Ile68Leu mutation, comparing them to patients with wild-type transthyretin amyloidosis (ATTRwt). Read More

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http://dx.doi.org/10.1002/ejhf.1285DOI Listing
October 2018
12 Reads

[Beneficial Effects of Restrictive Annuloplasty on Subvalvular Geometry in Patients with Functional Mitral Regurgitation and Advanced Cardiomyopathy].

Kyobu Geka 2018 Jul;71(7):496-504

Department of Cordiovascular Surgery, Osaka University, Suita, Japan.

Objectives: The effects of restrictive mitral annuloplasty (RMA) on subvalvular geometry remains unknown. We evaluated changes in left ventricular(LV) function, severity of mitral regurgitation(MR) and leaflet tethering parameters after RMA and clarified their associations.

Methods: In 44 patients with clinically-relevant functional MR who underwent RMA, distances between papillary muscle( PM) tips and anterior mitral annulus( PM-tethering distance), leaflet angles relative to lines connecting annuli, and interpapillary muscle distance( IPMD) were serially quantified. Read More

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July 2018
3 Reads

Immunoglobulin light chain amyloidosis: 2018 Update on diagnosis, prognosis, and treatment.

Authors:
Morie A Gertz

Am J Hematol 2018 Sep;93(9):1169-1180

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 or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and "atypical multiple myeloma."

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

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http://dx.doi.org/10.1002/ajh.25149DOI Listing
September 2018
47 Reads

[What gnaws at the heart and gets on the nerves].

Authors:
Arnt V Kristen

Internist (Berl) 2018 Nov;59(11):1208-1213

Zentrum für Innere Medizin, Klinik für Kardiologie, Angiologie und Pneumologie, Universitätsklinik Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Deutschland.

Transthyretin is a transport protein for thyroxine and retinol-binding protein, which is mainly produced in the liver. Hereditary transthyretin-related amyloidosis (ATTR) is caused by one of more than 120 point mutations in the transthyretin gene and inherited as an autosomal dominant disorder. The mutations cause a reduction in the stability of the tetrameric structure and dissociation into dimers and monomers as the rate-limiting step in amyloid formation is promoted. Read More

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http://link.springer.com/10.1007/s00108-018-0470-x
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http://dx.doi.org/10.1007/s00108-018-0470-xDOI Listing
November 2018
20 Reads

-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy.

Mol Genet Metab Rep 2018 Jun 22;15:65-66. Epub 2018 Feb 22.

University of Tunis El Manar, Genomics Platform, Pasteur Institute of Tunis, Tunisia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047054PMC
June 2018
3 Reads