2,241 results match your criteria Cardiomyopathy Restrictive


Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.

Int J Mol Sci 2021 Apr 20;22(8). Epub 2021 Apr 20.

CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", Unit of Bologna, 40136 Bologna, Italy.

Intermediate filaments are major components of the cytoskeleton. Desmin and synemin, cytoplasmic intermediate filament proteins and A-type lamins, nuclear intermediate filament proteins, play key roles in skeletal and cardiac muscle. Desmin, encoded by the gene (OMIM *125660) and A-type lamins by the gene (OMIM *150330), have been involved in striated muscle disorders. Read More

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Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.

J Am Heart Assoc 2021 May 28;10(9):e017731. Epub 2021 Apr 28.

Wayne State University School of Medicine Detroit MI.

Background Pediatric cardiomyopathy is a genetically heterogeneous disease with substantial morbidity and mortality. Current guidelines recommend genetic testing in children with hypertrophic, dilated, or restrictive cardiomyopathy, but practice variations exist. Robust data on clinical testing practices and diagnostic yield in children are lacking. Read More

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Endomyocardial fibrosis: a restrictive cardiomyopathy in developing countries.

Arch Cardiol Mex 2021 ;91(2):196-201

División de Cardiología, Fundación CardioInfantil IC, Universidad El Bosque, Facultad de Medicina y Ciencias de la salud.

Objective: Endomyocardial fibrosis (EF) is an unusual restrictive cardiomyopathy. In Latin America there are few reports. Here, we made a description of patients diagnosed with EF in Colombia. Read More

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January 2021

A Case Report of Sick Sinus Syndrome as an Initial Presentation of Primary Amyloidosis.

Cureus 2021 Mar 16;13(3):e13922. Epub 2021 Mar 16.

Internal Medicine/Nephrology, McLaren Health Care, Flint/Michigan State University, Michigan, USA.

Primary light chain amyloidosis (AL amyloidosis) rarely presents as sick sinus syndrome (SSS), and only a few cases have been reported in the literature. A higher index of suspicion is needed to diagnose AL amyloidosis in patients presenting with SSS. Recognizing the electrocardiography (ECG) and transthoracic echocardiogram (TTE) findings for amyloidosis are crucial for early recognition, proper management, and to improve the patients' quality of life. Read More

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A case report: Twin sisters with restrictive cardiomyopathy associated with rare mutations in the cardiac troponin I gene.

J Cardiol Cases 2021 Apr 1;23(4):154-157. Epub 2020 Dec 1.

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

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy in children, and its prognosis until now, has been poor. Recently some sarcomeric mutations have been reported as disease-causing genes of RCM. However, the genotype-phenotype correlation is not fully understood. Read More

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Intermediate-term outcomes of heart transplantation for cardiac amyloidosis in the current era.

Clin Transplant 2021 Apr 7:e14308. Epub 2021 Apr 7.

Smidt Cedars-Sinai Heart Institute, Los Angeles, CA, USA.

Background: Cardiac amyloidosis (CA) has been historically noted with poor outcomes after heart transplant (HTx). However, strict patient selection, appropriate multi-organ transplant, and aggressive post-transplant therapy can result in favorable outcomes. We present the experience in the largest single-center cohort of CA patients post-HTx in the recent era. Read More

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Recent advances in the diagnosis and management of amyloid cardiomyopathy.

Fac Rev 2021 24;10:31. Epub 2021 Mar 24.

Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH, USA.

Amyloidosis is a disorder characterized by misfolded precursor proteins that form depositions of fibrillar aggregates with an abnormal cross-beta-sheet conformation, known as amyloid, in the extracellular space of several tissues. Although there are more than 30 known amyloidogenic proteins, both hereditary and non-hereditary, cardiac amyloidosis (CA) typically arises from either misfolded transthyretin (ATTR amyloidosis) or immunoglobulin light-chain aggregation (AL amyloidosis). Its prevalence is more common than previously thought, especially among patients with heart failure and preserved ejection fraction (HFpEF) and aortic stenosis. Read More

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Phenotypic Diversity of Cardiomyopathy Caused by an Frameshift Mutation in a Korean Family: A Case Report.

Medicina (Kaunas) 2021 Mar 18;57(3). Epub 2021 Mar 18.

Department of Cardiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.

Restrictive cardiomyopathy (RCM) is one of the rarest cardiac disorders, with a very poor prognosis, and heart transplantation is the only long-term treatment of choice. We reported that a Korean family presented different cardiomyopathies, such as idiopathic RCM and hypertrophic cardiomyopathy (HCM), caused by the same mutation in different individuals. A 74-year-old male was admitted for the evaluation of exertional dyspnea, palpitations, and pitting edema in both legs for several months. Read More

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Neurologic Complications After Pediatric Heart Transplant: A Single-Center Experience.

Exp Clin Transplant 2021 Mar 31. Epub 2021 Mar 31.

From the Department of Pediatric Cardiology, Baskent University Faculty of Medicine, Ankara, Turkey.

Objectives: Neurologic complications that can lead to serious mortality and morbidity in pediatric heart transplant recipients have been reported to range from 23.6% to 45%. In this study, the frequency, time, cause, and characteristics of neurologic complications in pediatric heart transplant recipients were evaluated. Read More

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MRI Characteristics, Prevalence, and Outcomes of Hypertrophic Cardiomyopathy with Restrictive Phenotype.

Radiol Cardiothorac Imaging 2020 Aug 13;2(4):e190158. Epub 2020 Aug 13.

Department of Magnetic Resonance Imaging (S.L., B.W., G.Y., S.Z., M.L.), Key Laboratory of Cardiovascular Imaging (Cultivation), Chinese Academy of Medical Sciences, Beijing, China (M.L., G.Y.); Department of Cardiology (L.S.), Department of Echocardiography (Y.J.), and Heart-Lung Testing Center (J.H.), State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China; and Department of Radiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (B.W.).

Purpose: To investigate the MRI characteristics, prevalence, and outcomes of hypertrophic cardiomyopathy (HCM) with restrictive phenotype.

Materials And Methods: A total of 2592 consecutive patients with HCM were evaluated to identify individuals who fulfilled the diagnostic criteria of restrictive phenotype. Thirty-four patients with HCM (mean age, 41 years ± 16 [standard deviation]; range, 21-62 years, 16 men) with restrictive phenotype were retrospectively identified. Read More

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Clinical Characteristics and Contemporary Management of Patients With Cardiomyopathies in Japan - Report From a National Registry of Clinical Personal Records.

Circ Rep 2021 Feb 11;3(3):142-152. Epub 2021 Feb 11.

Department of Cardiovascular Medicine, Faculty of Medical Sciences, Kyushu University Fukuoka Japan.

The clinical features of patients with cardiomyopathy, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), or restrictive cardiomyopathy (RCM), have not been recently elucidated in Japan. We collected individual patient data regarding demographics, echocardiogram, and treatment in DCM from 2003 to 2014 and in HCM and RCM from 2009 to 2014 from the national registry of clinical personal records organized by the Japanese Ministry of Health, Labour and Welfare. In all, 44,136 patients were included in this registry: 40,537 with DCM, 3,553 with HCM, and 46 with RCM. Read More

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February 2021

Native T1 mapping in diffuse myocardial diseases using 3-Tesla MRI: An institutional experience.

Indian J Radiol Imaging 2020 Oct-Dec;30(4):465-472. Epub 2021 Jan 13.

Barnard Institute of Radiology, Madras Medical College, Chennai, Tamil Nadu, India.

Aims: Newer cardiac magnetic resonance techniques like native T1 mapping are being used increasingly as an adjunct to diagnose myocardial diseases with fibrosis. However, its full clinical utility has not been tested extensively, especially in the Indian population. The purpose of this study was to find native T1 values in healthy individuals without cardiac disease in our 3-Tesla MRI system and examine whether native myocardial T1 values can be used to differentiate between normal and diffuse myocardial disease groups. Read More

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January 2021

Detection of a rare cause of pulmonary hypertension by multimodality imaging: Left ventricular endomyocardial fibrosis.

J Clin Ultrasound 2021 Mar 14. Epub 2021 Mar 14.

Cardiology Department, University of Health Sciences Turkey Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.

Endomyocardial fibrosis (EMF), a restrictive cardiomyopathy characterized by subendocardial fibrosis, is commonly seen in tropical and subtropical regions. EMF involving the left ventricle presents with severe pulmonary hypertension (PH) and is a rare cause of PH in non-tropical areas. Multimodality imaging is important for accurate diagnosis, especially cardiac magnetic resonance imaging which is the cornerstone. Read More

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ECMO as a Bridge to Left Ventricular Assist Device or Heart Transplantation.

JACC Heart Fail 2021 Apr 10;9(4):281-289. Epub 2021 Mar 10.

Milstein Division of Cardiology, Department of Medicine, New York Presbyterian - Columbia University Irving Medical Center, New York, New York, USA. Electronic address:

Objectives: The purpose of this study was to compare outcomes between patients on extracorporeal membrane oxygenation (ECMO) bridged to left ventricular assist device (LVAD) versus heart transplantation (HT) using registry data.

Background: Patients with heart failure supported with ECMO represent the highest priority in the new HT allocation system. For patients on ECMO, bridging to LVAD may be non-inferior compared with bridging to HT. Read More

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Endocrine causes of heart failure: A clinical primer for cardiologists.

Indian Heart J 2021 Jan-Feb;73(1):14-21. Epub 2020 Nov 11.

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.

Heart failure (HF) may be a presenting manifestation of a few endocrine disorders and should be considered in evaluation of heart failure causes. This clinically oriented review is an attempt to highlight the protean manifestations of heart failure in endocrine diseases which could present either as acute or chronic heart failure. Acute heart failure manifests as hypertensive crisis, Takotsubo syndrome, or as tachy/brady cardiomyopathies. Read More

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November 2020

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

Nat Commun 2021 03 12;12(1):1626. Epub 2021 Mar 12.

Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.

Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 variants in patients with distinctive, but overlapping, clinical phenotypes: natural killer (NK) cell deficiency (NKD) and restrictive cardiomyopathy (RCM) with hypoplasia of the spleen and thymus. To understand the mechanism of MCM10-associated disease, we modeled these variants in human cell lines. Read More

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[Restrictive cardiomyopathy: Importance of early diagnosis].

An Pediatr (Barc) 2021 Mar 9. Epub 2021 Mar 9.

Unidad de Cardiología Pediátrica, Hospital Universitario Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, España.

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Long-term Electrocardiographic Follow-up in Patients with Light-chain Cardiac Amyloidosis.

J Nippon Med Sch 2021 Mar 9. Epub 2021 Mar 9.

Department of General Medicine and Health Science, Nippon Medical School.

Amyloid light-chain (AL) cardiac amyloidosis is known to result in restrictive cardiomyopathy, which has a poor prognosis. Although electrocardiography (ECG) is useful for its diagnosis and management, there are few reports on the long-term follow-up of electrocardiographic changes. The patient in the present case was a 62-year-old woman who visited our hospital due to palpitation and lower leg edema. Read More

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Loeffler's endocarditis in a patient with a new diagnosed Churg-Strauss syndrome (CSS): A case report.

Caspian J Intern Med 2021 ;12(1):107-110

Department of Cardiology, Cheng Hsin General Hospital, Taipei, Taiwan.

Background: Loeffler's endocarditis is a rare disease, caused by endocardial involvement of esosinophils, which damages the heart and leads to endomyocardial fibrosis with consequent restrictive cardiomyopathy, mural thrombi or valvular dysfunction. The association between Loeffler's endocarditis and Churg-Strauss syndrome (CSS) was also reported. Abnormal elevation of peripheral eosinophil counts in a heart failure patient is a hint of disease. Read More

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January 2021

Fibroblast-Cardiomyocyte Interaction in Pediatric Restrictive Cardiomyopathy.

Circ J 2021 Apr 6;85(5):687-689. Epub 2021 Mar 6.

Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo.

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External Validation of a Risk Prediction Model for Ventricular Arrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy.

Can J Cardiol 2021 Mar 3. Epub 2021 Mar 3.

Sorbonne Université, APHP, Groupe Hospitalier Pitié-Salpêtrière, Institut de Cardiologie, Paris, France.

The new 5-years ventricular arrhythmia (VA) occurrence risk model is a major breakthrough for arrhythmic-risk stratification in the challenging ARVC population. In the original study, the model resulted in a 20.6% reduction in implantable cardioverter-defibrillator (ICD) placement as compared with the 2015 consensus, for the same protection level. Read More

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Myths to debunk: the non-compacted myocardium.

Eur Heart J Suppl 2020 Nov 18;22(Suppl L):L6-L10. Epub 2020 Nov 18.

Centre for Inherited Cardiovascular Diseases, IRCCS Foundation University Hospital Policlinico San Matteo, Pavia, Italy.

Left ventricular non-compaction (LVNC) is defined by the triad: prominent trabecular anatomy, thin compacted layer, and deep inter-trabecular recesses. No person, sick or healthy, demonstrates identical anatomy of the trabeculae; their configuration represents a sort of individual dynamic 'cardiac fingerprinting'. LVNC can be observed in healthy subjects with normal left ventricular (LV) size and function, in athletes, in pregnant women, as well as in patients with haematological disorders, neuromuscular diseases, and chronic renal failure; it can be acquired and potentially reversible. Read More

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November 2020

ACR Appropriateness Criteria® Nonischemic Myocardial Disease with Clinical Manifestations (Ischemic Cardiomyopathy Already Excluded).

J Am Coll Radiol 2021 May 27;18(5S):S83-S105. Epub 2021 Feb 27.

Specialty Chair, UT Southwestern Medical Center, Dallas, Texas.

Nonischemic cardiomyopathies encompass a broad spectrum of myocardial disorders with mechanical or electrical dysfunction without evidence of ischemia. There are five broad variants of nonischemic cardiomyopathies; hypertrophic cardiomyopathy (Variant 1), restrictive or infiltrative cardiomyopathy (Variant 2), dilated or unclassified cardiomyopathy (Variant 3), arrhythmogenic cardiomyopathy (Variant 4), and inflammatory cardiomyopathy (Variant 5). For variants 1, 3, and 4, resting transthoracic echocardiography, MRI heart function and morphology without and with contrast, and MRI heart function and morphology without contrast are the usually appropriate imaging modalities. Read More

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Impact of the new heart allocation policy on patients with restrictive, hypertrophic, or congenital cardiomyopathies.

PLoS One 2021 2;16(3):e0247789. Epub 2021 Mar 2.

Yale School of Medicine, New Haven, Connecticut, United States of America.

Background: Patients with restrictive or hypertrophic cardiomyopathy (RCM/HCM) and congenital heart disease (CHD) do not derive clinical benefit from inotropes and mechanical circulatory support. Concerns were expressed that the new heart allocation system implemented in October 2018 would disadvantage these patients. This paper aimed to examine the impact of the new adult heart allocation system on transplantation and outcomes among patients with RCM/HCM/CHD. Read More

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Left Ventricular Assist Device Support for Fabry Cardiomyopathy: A Case Series.

CJC Open 2021 Feb 6;3(2):201-203. Epub 2020 Oct 6.

Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada.

Patients with restrictive cardiomyopathy due to Fabry disease are often deemed ineligible for left ventricular assist device (LVAD) support due to the risk of suction events with a small LV cavity. We describe the first case series of LVAD support for Fabry disease. LVAD therapy can improve survival, quality of life, and provide clinical stability to start enzyme replacement therapy. Read More

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February 2021

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.

Orphanet J Rare Dis 2021 02 27;16(1):108. Epub 2021 Feb 27.

Department of Veterinary Clinical Sciences, North Carolina State University, Raleigh, NC, 27607, USA.

Background: Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated with the development of Alstrom syndrome, a multisystem familial disease that can include cardiomyopathy (dilated, restrictive). Read More

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February 2021

Left Ventricular Assist Device Implantation in Hypertrophic and Restrictive Cardiomyopathy: A Systematic Review.

ASAIO J 2021 03;67(3):239-244

From the Division of Cardiology, Westchester Medical Center and New York Medical College, Valhalla, NY.

Left ventricular assist device (LVAD) implantation in patients with advanced heart failure due to hypertrophic or restrictive cardiomyopathy (HCM/RCM) presents technical and physiologic challenges. We conducted a systematic review of observational studies to evaluate the utilization and clinical outcomes associated with LVAD implantation in patients with HCM/RCM and compared these to patients with dilated or ischemic cardiomyopathy (DCM/ICM). We searched MEDLINE, EMBASE, and Scopus from inception through May 2019 and included appropriate studies describing the use of an LVAD in patients with HCM/RCM. Read More

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Cardiac Fibroblasts Play Pathogenic Roles in Idiopathic Restrictive Cardiomyopathy.

Circ J 2021 Apr 13;85(5):677-686. Epub 2021 Feb 13.

Department of Pediatrics, Osaka University Graduate School of Medicine.

Background: Restrictive cardiomyopathy (RCM) is characterized by impaired ventricular relaxation. Although several mutations were reported in some patients, no mutations were identified in cardiomyocyte expressing genes of other patients, indicating that pathological mechanisms underlying RCM could not be determined by cardiomyocytes only. Cardiac fibroblasts (CFs) are a major cell population in the heart; however, the pathological roles of CFs in cardiomyopathy are not fully understood. Read More

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Cardiac sarcoidosis masquerading as ventricular tachycardia storm: a challenging diagnosis.

BMJ Case Rep 2021 Feb 9;14(2). Epub 2021 Feb 9.

Department of Cardiology, Jackson Memorial Hospital/University of Miami Miller School of Medicine, Miami, Florida, USA

A 67-year-old African-American woman with remote history of complete heart block (s/p pacemaker 3 years ago) and recent onset of ventricular tachycardia (VT) (s/p VT ablation and cardiac resynchronisation therapy defibrillator upgrade 3 months ago) presented to the hospital with VT storm. Workup showed newly reduced left ventricular ejection fraction with global hypokinesis (20%) and restrictive physiology. Positive technetium pyrophosphate scan was suspicious for TTR amyloid while serological workup revealed a monoclonal gammopathy. Read More

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February 2021

Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy.

J Clin Med 2021 Feb 4;10(4). Epub 2021 Feb 4.

Department of Internal Medicine III, University of Heidelberg, 69120 Heidelberg, Germany.

Over the past decades, there has been tremendous progress in understanding genetic alterations that can result in different phenotypes of human cardiomyopathies. More than a thousand mutations in various genes have been identified, indicating that distinct genetic alterations, or combinations of genetic alterations, can cause either hypertrophic (HCM), dilated (DCM), restrictive (RCM), or arrhythmogenic cardiomyopathies (ARVC). Translation of these results from "bench to bedside" can potentially group affected patients according to their molecular etiology and identify subclinical individuals at high risk for developing cardiomyopathy or patients with overt phenotypes at high risk for cardiac deterioration or sudden cardiac death. Read More

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February 2021