2,007 results match your criteria Cardiomyopathy Restrictive


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

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 Jan 31. 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
January 2019
1 Read
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
3 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
2 Reads

Characteristic clinical and ultrastructural findings in nesprinopathies.

Eur J Paediatr Neurol 2018 Dec 29. 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
December 2018
2 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
6 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
10 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
18 Reads

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

Pediatr Cardiol 2018 Dec 12. 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
December 2018

[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
1 Read

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
7 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
14 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
15 Reads

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

J Clin Anesth 2018 Nov 6;54:87-88. Epub 2018 Nov 6.

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
November 2018
2 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
16 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
4 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
7 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
11 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
3 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
3 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
3 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
19 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
3 Reads

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

Lifestyle Genom 2018 Sep 19:1-3. 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
3 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
15 Reads

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

J Transl Med 2018 Aug 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
4 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
14 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
11 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
1 Read

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
35 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
12 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

Myocardial Contraction Fraction by M-Mode Echocardiography Is Superior to Ejection Fraction in Predicting Mortality in Transthyretin Amyloidosis.

J Card Fail 2018 Aug 17;24(8):504-511. Epub 2018 Aug 17.

Department of Medicine, Columbia University Medical Center, New York, New York. Electronic address:

Background: Transthyretin amyloidosis (ATTR) is often associated with cardiac involvement manifesting as conduction disease as well as restrictive cardiomyopathy causing heart failure and death. Myocardial contraction fraction (MCF), the ratio of left ventricular stroke volume (SV) to myocardial volume (MV), is a volumetric measure of myocardial shortening that is superior to ejection fraction (EF) in predicting mortality in patients with primary amyloid light chain cardiac amyloidosis. We hypothesized that MCF would be an independent predictor of survival in TTR-CA. Read More

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http://dx.doi.org/10.1016/j.cardfail.2018.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372291PMC
August 2018
12 Reads

Cardiovascular effects of radiation therapy.

Curr Probl Cancer 2018 Jul 12;42(4):433-442. Epub 2018 Jun 12.

Division of Cardiovascular Medicine, University of South Florida, Tampa, FL 33606; Cardio-Oncology Program, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612. Electronic address:

Radiation therapy (RT) plays a prominent role in the treatment of many cancers. With increasing use of RT and high overall survival rates, the risks associated with RT must be carefully considered. Of these risks, the cardiovascular and autonomic toxicities have been of significant concern. Read More

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http://dx.doi.org/10.1016/j.currproblcancer.2018.05.008DOI Listing
July 2018
21 Reads

Echocardiographic measures associated with the presence of left ventricular thrombus in patients with chemotherapy-related cardiac dysfunction.

Echocardiography 2018 10 13;35(10):1512-1518. Epub 2018 Jul 13.

Department of Cardiology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Background: Previous studies have not evaluated the prevalence and specific risk factors for the development of left ventricular (LV) thrombus in patients with severely reduced left ventricular dysfunction due to chemotherapy-related cardiomyopathy. We sought to evaluate the prevalence and potential markers of LV thrombus in this patient population.

Methods: From January 2009 to December 2013, patients with chemotherapy-related severe LV dysfunction (LV ejection fraction [LVEF] ≤ 30%) identified from MD Anderson Cancer Center database were reviewed. Read More

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http://dx.doi.org/10.1111/echo.14087DOI Listing
October 2018
2 Reads

Changes to oral anticoagulant therapy and risk of death over a 3-year follow-up of a contemporary cohort of European patients with atrial fibrillation final report of the EURObservational Research Programme on Atrial Fibrillation (EORP-AF) pilot general registry.

Int J Cardiol 2018 Nov 9;271:68-74. Epub 2018 Jul 9.

Institute of Cardiovascular Sciences, University of Birmingham, United Kingdom; Aalborg Thrombosis Research Unit, Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.

Background: Contemporary European data regarding patients with atrial fibrillation (AF) allow us to assess the use of oral anticoagulants (OACs) and long-term outcomes.

Methods: Patients with AF presenting to cardiologists in 9 European Society of Cardiology participating countries were enrolled and followed-up for 3-years.

Results: Among the 2119 patients (40. Read More

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http://dx.doi.org/10.1016/j.ijcard.2018.05.034DOI Listing
November 2018
8 Reads

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome.

Front Cardiovasc Med 2018 26;5:77. Epub 2018 Jun 26.

Division of Cardiology, Department of Internal Medicine, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.

Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic right/left ventricular cardiomyopathy (ARVC) and left ventricular non-compacted cardiomyopathy (LVNC) has been established in comparison to dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM). The aim of this article is to review mutations in the non-coding parts of the genome, namely, microRNA, promoter elements, enhancer/silencer elements, 3'/5'UTRs and introns, that are involved in the pathogenesis CMs. Read More

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http://dx.doi.org/10.3389/fcvm.2018.00077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028572PMC
June 2018
1 Read

Multisystem amyloidosis as the unifying diagnosis for constipation, collapse and cardiomyopathy.

BMJ Case Rep 2018 Jul 10;2018. Epub 2018 Jul 10.

Gastroenterology, University Hospitals Coventry and Warwickshire NHS Trust, Coventry, UK.

Amyloidosis a rare disorder characterised by the deposition of amyloid protein aggregates in different organ systems throughout the body with resulting functional impairment of affected organs. It can present with localised or multisystemic deposits. Diagnosis is often delayed due to the non-specific nature of the symptoms. Read More

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http://dx.doi.org/10.1136/bcr-2018-225301DOI Listing
July 2018
10 Reads

FIP1L1-PDGFRA fusion-negative hypereosinophilic syndrome with uncommon cardiac involvement responding to imatinib treatment: A case report.

Mol Clin Oncol 2018 Jul 21;9(1):35-39. Epub 2018 May 21.

Santa Terezinha University Hospital, Joaçaba, Santa Catarina 89600-000, Brazil.

Hypereosinophilic syndrome is a rare, chronic hematological disease characterized by a persistently elevated eosinophil count exceeding 1.5×10/l, following the exclusion of other potential etiologies. The systemic involvement of the disease causes tissue damage through eosinophil infiltration, and may affect various organs; cardiac complications are observed in 50-60% of cases, which are predominately attributed to endomyocardial fibrosis. Read More

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http://dx.doi.org/10.3892/mco.2018.1637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031893PMC
July 2018
2 Reads

The Multifunctional Protein BAG3: A Novel Therapeutic Target in Cardiovascular Disease.

JACC Basic Transl Sci 2018 Feb;3(1):122-131

Department of Medicine, Division of Cardiology, Lewis Katz School of Medicine, Philadelphia, Pennsylvania.

The B-cell lymphoma 2-associated anthanogene (BAG3) protein is expressed most prominently in the heart, the skeletal muscle, and in many forms of cancer. In the heart, it serves as a co-chaperone with heat shock proteins in facilitating autophagy; binds to B-cell lymphoma 2, resulting in inhibition of apoptosis; attaches actin to the Z disk, providing structural support for the sarcomere; and links the α-adrenergic receptor with the L-type Ca channel. When BAG3 is overexpressed in cancer cells, it facilitates prosurvival pathways that lead to insensitivity to chemotherapy, metastasis, cell migration, and invasiveness. Read More

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http://dx.doi.org/10.1016/j.jacbts.2017.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013050PMC
February 2018
26 Reads

Eosinophilia to endomyocardial fibrosis: Documentation of a case.

Ann Pediatr Cardiol 2018 May-Aug;11(2):207-210

Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India.

Endomyocardial fibrosis (EMF) is an important cause of restrictive cardiomyopathy in tropical countries. The etiopathogenesis of EMF remains obscure. The role of eosinophilia in the etiopathogenesis of EMF has been debated extensively, but remains unproven. Read More

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http://dx.doi.org/10.4103/apc.APC_143_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5963239PMC
June 2018
4 Reads

Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.

J Hum Genet 2018 Sep 15;63(9):989-996. Epub 2018 Jun 15.

Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) present a high risk for sudden cardiac death in pediatric patients. The aim of this study was to identify disease-associated genetic variants in Japanese patients with pediatric HCM and RCM. We analyzed 67 cardiomyopathy-associated genes in 46 HCM and 7 RCM patients diagnosed before 16 years of age using a next-generation sequencing system. Read More

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http://dx.doi.org/10.1038/s10038-018-0479-yDOI Listing
September 2018
3 Reads

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 09 14;20(9):899-909. Epub 2018 Jun 14.

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

Purpose: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life.

Methods: A writing group of cardiologists and genetics professionals updated guidance, first published in 2009 for the Heart Failure Society of America (HFSA), in a collaboration with the American College of Medical Genetics and Genomics (ACMG). Read More

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http://dx.doi.org/10.1038/s41436-018-0039-zDOI Listing
September 2018
26 Reads

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.

Hum Mutat 2018 Sep 17;39(9):1161-1172. Epub 2018 Jun 17.

Almazov National Medical Research Centre, Saint Petersburg, Russia.

Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies. Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c. Read More

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http://dx.doi.org/10.1002/humu.23559DOI Listing
September 2018
4 Reads

A Global Assessment of Circulating Prolysyl Oxidase in Nonischemic Patients With Garden-variety Heart Failure With Preserved Ejection Fraction.

Rev Esp Cardiol (Engl Ed) 2018 May 25. Epub 2018 May 25.

Fundación de Investigaciones Biomédicas, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá, Alcalá de Henares, Madrid, Spain.

Introduction And Objectives: Lysyl oxidase is overexpressed in the myocardium of patients with hypertensive cardiomyopathy. We aimed to explore whether patients with hypertensive-metabolic heart failure with preserved ejection fraction (HM-HFpEF) also have increased concentrations of circulating prolysyl oxidase (cpLOX) and its possible consequences.

Methods: We quantified cpLOX concentrations in 85 nonischemic patients with stage C, HM-HFpEF, and compared them with those of 51 healthy controls. Read More

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http://dx.doi.org/10.1016/j.rec.2018.04.006DOI Listing
May 2018
12 Reads

Stroke Presenting as a Complication of Sarcoidosis in an Otherwise Asymptomatic Patient.

Cureus 2018 Mar 26;10(3):e2362. Epub 2018 Mar 26.

Research Center, King Fahad Medical City, Riyadh, Saudi Arabia.

A stroke occurring in young patients in the absence of common risk factors needs a thorough investigation of the underlying cause to prevent its recurrence. Herein, we discuss a case of stroke with rare etiology in a 28-year-old male presenting within 30 minutes of speech difficulty and right-sided weakness. The initial triage workup showed an abnormal configuration of the P wave in the 12 lead echocardiograph (ECG) and his chest x-ray (CXR) showed mediastinal widening. Read More

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http://dx.doi.org/10.7759/cureus.2362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5969794PMC
March 2018
6 Reads

Cardiomyopathy Phenotypes and Pregnancy Outcomes with Left Ventricular Noncompaction Cardiomyopathy.

Int Heart J 2018 Jul 23;59(4):862-867. Epub 2018 May 23.

Department of Perinatology and Obstetrics, National Cerebral and Cardiovascular Center.

Little is known about pregnancies of left ventricular noncompaction cardiomyopathy (LVNC), much less cases in which LVNC was definitively diagnosed prepregnancy. We report the cases of three pregnant Japanese women definitively diagnosed with LVNC prepregnancy. Case 1 presented LVNC with restrictive phenotype. Read More

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http://dx.doi.org/10.1536/ihj.17-336DOI Listing
July 2018
5 Reads