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restrictive cardiomyopathy

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https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#1
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy, mainly caused by mutations in genes encoding for sarcomere proteins. Even though many mutations have been recognized to be causative of HCM, specific HCM phenotypes can be rarely predicted by the genotype, possibly as a consequence of the presence of still unknown disease-modifying genes [Maron et al. (2013). Lancet 381:242-55]. In this very peculiar case of HCM hypertrophy localized to left ventricle, mid-wall segments coexisted with a restrictive filling pattern and an apical wall thinning mimicking hypoplasia of left ventricle apex...
June 24, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28647415/restrictive-arteriopathy-in-late-onset-pompe-disease-case-report-and-review-of-the-literature
#2
Konark Malhotra, David C Carrington, David S Liebeskind
Late-onset Pompe disease (LOPD) is an adult type of classical Pompe disease and presents without cardiomyopathy. Neuroimaging in LOPD is typically limited to posterior circulation and involves dilative arteriopathy, especially dolichoectasia and intracranial aneurysms. We report an interesting case of an established diagnosis of asymptomatic LOPD in a young man with a restrictive-variant pattern in posterior vasculature. We discuss the clinical presentation, neuroimaging, existing literature, and prognosis in vascular variants of LOPD...
June 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28645928/molecular-mechanisms-in-cardiomyopathy
#3
REVIEW
Keith Dadson, Ludger Hauck, Filio Billia
Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while in vitro and in vivo experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases...
July 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28622497/feline-panleukopenia-virus-is-not-associated-with-myocarditis-or-endomyocardial-restrictive-cardiomyopathy-in-cats
#4
Laura McEndaffer, Alex Molesan, Hollis Erb, Kathleen Kelly
Canine parvovirus-2 (CPV-2) is nearly indistinguishable from feline panleukopenia virus (FPV) and is a well-known cause of viral myocarditis in young puppies; however, it is not known whether either FPV or CPV-2 naturally infects feline cardiomyocytes and causes myocarditis. Endomyocarditis (EMC) and left ventricular endomyocardial fibrosis (LVEF), clinically known as "endomyocardial restrictive cardiomyopathy," are important feline heart diseases suspected to have an infectious etiology. A continuum is suggested with EMC representing the acute reaction to an unknown infectious agent and LVEF the chronic manifestation of repair...
July 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28617995/investigation-of-an-n-terminal-prohormone-of-brain-natriuretic-peptide-point-of-care-elisa-in-clinically-normal-cats-and-cats-with-cardiac-disease
#5
A N Harris, S S Beatty, A H Estrada, B Winter, M Bohannon, I Sosa, J Hanscom, C A Mainville, A E Gallagher
BACKGROUND: N-terminal prohormone of brain natriuretic peptide (NT-proBNP) concentrations may be increased in cats with various cardiac disorders. The point-of-care (POC) ELISA assay uses the same biologic reagents as the quantitative NT-proBNP ELISA. Previous studies have evaluated the sensitivity and specificity of the POC ELISA in cats with cardiac disease. OBJECTIVES: To prospectively evaluate the diagnostic utility of the POC ELISA in a select population of cats...
June 15, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28597748/hypereosinophilic-cardiac-disease
#6
Laura Filippetti, Olivier Huttin, Christine Selton-Suty, Damien Voilliot
Hypereosinophilia may be due to several aetiologies. Cardiac complications are not uncommon, whatever the causes. Clinical presentations of hypereosinophilic cardiac diseases may vary widely from asymptomatic form to fatal necrotic myocarditis or irreversible restrictive cardiomyopathy. As a major cause of morbidity and mortality, diagnosis of cardiac involvement is crucial. Until recently the diagnosis was exclusively based on cardiac biopsy. Nowadays, multimodal cardiac imaging, including echocardiography and cardiac magnetic resonance imaging, is the cornerstone of the diagnosis...
February 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28595207/eosinophilic-myocarditis-presenting-as-acute-coronary-syndrome
#7
Evrim Şimşek, Filiz Özerkan Çakan, Mustafa Akın
Eosinophilic myocarditis (EM) is a rare condition that may result from several heterogeneous eosinophilic diseases, including parasite infection, hypersensitivity reaction, vasculitis, and hypereosinophilic syndrome. Regardless of etiology, the disease may present with various cardiac conditions, such as acute coronary syndrome, heart failure, or arrhythmia. Irreversible endomyocardial fibrosis, which causes restrictive cardiomyopathy, occurs in the late phase of the disease. Early diagnosis and treatment is crucial to prevent disease progression...
June 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28573678/cardiac-involvements-in-hypereosinophilia-associated-syndrome-case-reports-and-a-little-review-of-the-literature
#8
Xuanyi Jin, Chunyan Ma, Shuang Liu, Zhengyu Guan, Yonghuai Wang, Jun Yang
Hypereosinophilia-associated syndrome is a rare group of systemic diseases without certain underlying causes. Hypereosinophilic syndrome (HES) and eosinophilic granulomatosis with polyangiitis (EGPA), formerly known as Churg-Strauss syndrome (CSS), are initial considerations, when underlying causes remains unexplained despite of complete evaluation of hypereosinophilia. In this study, we report two rare cases, one case of HES with Loeffler endocarditis, and the other one of EGPA with restrictive cardiomyopathy mimicking myocardial infarction, to further address differential chief cardiac manifestations between HES and EGPA...
June 1, 2017: Echocardiography
https://www.readbyqxmd.com/read/28523323/discovery-of-a-new-mutation-in-the-desmin-gene-in-a-young-patient-with-cardiomyopathy-and-muscular-weakness
#9
Ruxandra Oana JurcuŢ, Alexandra Eugenia Bastian, Sebastian Militaru, Aura Popa, Emilia Manole, Bogdan Alexandru Popescu, Jonna Tallila, Bogdan Ovidiu Popescu, Carmen Doina Ginghină
A 25-year-old woman with a five years history of syncope, mild left ventricular hypertrophy and moderately enlarged atria, was diagnosed with third degree atrioventricular heart block alternating with atrioventricular heart block 2:1, and received a dual chamber pacemaker. After three years of evolution, she developed atrial fibrillation, marked biatrial enlargement, severely depressed longitudinal myocardial velocities, associated with mild girdle weakness and slight increase in creatine kinase level. The diagnosis of restrictive cardiomyopathy with mild skeletal myopathy imposed the screening for a common etiology...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28523319/amyloidosis-a-rare-cause-of-refractory-heart-failure-in-a-young-female
#10
Irina Iuliana Costache, Claudia Florida Costea, Mihai Danciu, Victor Vlad Costan, Viviana Aursulesei, Gabriela FlorenŢa Dumitrescu, Mihaela Dana Turliuc, Anca Sava
Cardiac amyloidosis may occur in any type of systemic amyloidosis. The clinical picture is often characterized by restrictive cardiomyopathy. We report the case of a 41-year-old female patient admitted to the Department of Cardiology with clinical signs of right heart failure: congested jugular veins, hepatomegaly, peripheral edema, ascites associated with atrial fibrillation, low values of arterial blood pressure and oliguria. Echocardiographic findings were helpful for the diagnosis of cardiac amyloidosis: enlarged atrial cavities, normal size ventricles, thickened ventricular septum and posterior left ventricle wall with normal left ventricular ejection fraction, mitral and tricuspid regurgitation...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28515850/dissection-of-z-disc-myopalladin-gene-network-involved-in-the-development-of-restrictive-cardiomyopathy-using-system-genetics-approach
#11
Qingqing Gu, Uzmee Mendsaikhan, Zaza Khuchua, Byron C Jones, Lu Lu, Jeffrey A Towbin, Biao Xu, Enkhsaikhan Purevjav
AIM: To investigate the regulation of Myopalladin (Mypn) and identify its gene network involved in restrictive cardiomyopathy (RCM). METHODS: Gene expression values were measured in the heart of a large family of BXD recombinant inbred (RI) mice derived from C57BL/6J and DBA/2J. The proteomics data were collected from Mypn knock-in and knock-out mice. Expression quantitative trait locus (eQTL) mapping methods and gene enrichment analysis were used to identify Mypn regulation, gene pathway and co-expression networks...
April 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28510718/multimodality-imaging-in-restrictive-cardiomyopathies-an-eacvi-expert-consensus-document-in-collaboration-with-the-working-group-on-myocardial-and-pericardial-diseases-of-the-european-society-of-cardiology-endorsed-by-the-indian-academy-of-echocardiography
#12
Gilbert Habib, Chiara Bucciarelli-Ducci, Alida L P Caforio, Nuno Cardim, Philippe Charron, Bernard Cosyns, Aurélie Dehaene, Genevieve Derumeaux, Erwan Donal, Marc R Dweck, Thor Edvardsen, Paola Anna Erba, Laura Ernande, Oliver Gaemperli, Maurizio Galderisi, Julia Grapsa, Alexis Jacquier, Karin Klingel, Patrizio Lancellotti, Danilo Neglia, Alessia Pepe, Pasquale Perrone-Filardi, Steffen E Petersen, Sven Plein, Bogdan A Popescu, Patricia Reant, L Elif Sade, Erwan Salaun, Riemer H J A Slart, Christophe Tribouilloy, Jose Zamorano
Restrictive cardiomyopathies (RCMs) are a diverse group of myocardial diseases with a wide range of aetiologies, including familial, genetic and acquired diseases and ranging from very rare to relatively frequent cardiac disorders. In all these diseases, imaging techniques play a central role. Advanced imaging techniques provide important novel data on the diagnostic and prognostic assessment of RCMs. This EACVI consensus document provides comprehensive information for the appropriateness of all non-invasive imaging techniques for the diagnosis, prognostic evaluation, and management of patients with RCM...
May 16, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28497843/heart-failure-pilot-transcriptomic-analysis-of-cardiac-tissue-by-rna-sequencing
#13
Concetta Schiano, Valerio Costa, Marianna Aprile, Vincenzo Grimaldi, Ciro Maiello, Roberta Esposito, Andrea Soricelli, Vittorio Colantuoni, Francesco Donatelli, Alfredo Ciccodicola, Claudio Napoli
BACKGROUND: Despite left ventricular (LV) dysfunction contributing to mortality in chronic heart failure (HF), the molecular mechanisms of LV failure continues to remain poorly understood and myocardial biomarkers have yet to be identified. The aim of this pilot study was to investigate specific transcriptome changes occurring in cardiac tissues of patients with HF compared to healthy condition patients to improve diagnosis and possible treatment of affected subjects. METHODS: Unlike other studies, only dilated cardiomyopathy (DCM) (n = 2) and restrictive cardiomyopathy (RCM) (n = 2) patients who did not report family history of the disease were selected with the aim of obtaining a homogeneous population for the study...
May 12, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28493373/the-novel-%C3%AE-b-crystallin-cryab-mutation-p-d109g-causes-restrictive-cardiomyopathy
#14
Andreas Brodehl, Anna Gaertner-Rommel, Bärbel Klauke, Simon Andre Grewe, Ilona Schirmer, Andreas Peterschröder, Lothar Faber, Matthias Vorgerd, Jan Gummert, Dario Anselmetti, Uwe Schulz, Lech Paluszkiewicz, Hendrik Milting
Restrictive cardiomyopathy (RCM) is a rare heart disease characterized by diastolic dysfunction and atrial enlargement. The genetic etiology of RCM is not completely known. We identified by a next-generation sequencing panel the novel CRYAB missense mutation c.326A>G, p.D109G in a small family with RCM in combination with skeletal myopathy with an early onset of the disease. CRYAB encodes αB-crystallin, a member of the small heat shock protein family, which is highly expressed in cardiac and skeletal muscle...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28487781/hypocalciuric-hypercalcemia-due-to-impaired-renal-tubular-calcium-excretion-in-a-type-2-diabetic-patient
#15
Sihao Yang, Yan Ren, Xi Li, Haoming Tian, Zhenmei An, Tao Chen
The case we presented here was a 73-year-old gentleman, who was admitted to endocrinology department due to recurrent fatigue for 1 year. He had medical histories of type 2 diabetes for 18 years and developed CKD 4 years ago. He also suffered from dilated cardiomyopathy, and coronary heart disease, moderate sleep apnea syndrome, primary hypothyroidism, and gout. His treatment regimen was complicated which included Caltrate D and compound α-keto acid (1200 mg calcium/d). Laboratory examination revealed that his serum calcium level elevated, 24-hour urine calcium output decreased, PTH level was suppressed, and 25-hydroxyvitamin D was in normal low range...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28464518/6q25-1-tab2-microdeletion-syndrome-congenital-heart-defects-and-cardiomyopathy
#16
Andrew Cheng, Mary Beth P Dinulos, Whitney Neufeld-Kaiser, Jill Rosenfeld, McKenna Kyriss, Suneeta Madan-Khetarpal, Hiba Risheg, Peter H Byers, Yajuan J Liu
Congenital heart defects (CHD) are the most frequent type of congenital anomaly and are often associated with genetic and chromosomal syndromes. Haploinsufficiency of TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2) has been proposed to cause valvular and cardiac outflow tract structural abnormalities. In this study, we describe 13 newly identified individuals with microdeletions of chromosome 6q25.1 that involve TAB2. One of the patients in our study cohort has the smallest deletion yet reported, affecting only TAB2...
May 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28461794/surgical-treatment-of-constrictive-pericarditis
#17
REVIEW
Burak Can Depboylu, Parmeseeven Mootoosamy, Nicola Vistarini, Ariane Testuz, Ismail El-Hamamsy, Mustafa Cikirikcioglu
Constrictive pericarditis is the final stage of a chronic inflammatory process characterized by fibrous thickening and calcification of the pericardium that impairs diastolic filling, reduces cardiac output, and ultimately leads to heart failure. Transthoracic echocardiography, computed tomography, and cardiac magnetic resonance imaging each can reveal severe diastolic dysfunction and increased pericardial thickness. Cardiac catheterization can help to confirm a diagnosis of diastolic dysfunction secondary to pericardial constriction, and to exclude restrictive cardiomyopathy...
April 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28460244/late-onset-cardiomyopathy-as-presenting-sign-of-attr-a45g-amyloidosis-caused-by-a-novel-ttr-mutation-p-a65g
#18
Sebastiaan H C Klaassen, Henny H Lemmink, Johan Bijzet, Andor W J M Glaudemans, Reinhard Bos, Wouter Plattel, Maarten P van den Berg, Riemer H J A Slart, Hans L A Nienhuis, Dirk J van Veldhuisen, Bouke P C Hazenberg
OBJECTIVE: The clinical description of a novel TTR gene mutation characterized by a late onset amyloid cardiomyopathy. METHODS AND RESULTS: A 78-year-old man of Dutch origin with recent surgery for bilateral carpal tunnel syndrome (CTS) was admitted to our hospital because of heart failure with preserved ejection fraction (55%). Cardiac ultrasound showed thickened biventricular walls, and cardiac magnetic resonance imaging also showed late gadolinium enhancement...
April 18, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28457383/kidney-transplantation-in-alstr%C3%A3-m-syndrome-case-report
#19
L Poli, G Arroyo, M Garofalo, E Choppin de Janvry, G Intini, A Saracino, R Pretagostini, F Della Pietra, P B Berloco
The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. End-stage renal disease can occur as early as the late teens and is the leading cause of death...
May 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28453224/a-reappraisal-of-the-mechanisms-underlying-the-cardiac-complications-of-sickle-cell-anemia
#20
REVIEW
Parul Rai, Omar Niss, Punam Malik
Anemia, hemolysis-driven vasculopathy, and intrinsic myocardial injury have been proposed as predisposing factors to cardiac disease in sickle cell anemia (SCA). The individual impact of these mechanisms on the cardiac features of SCA and the way they influence complications such as sudden death and dysrhythmias have been unclear. Recent findings of an acquired restrictive SCA-related cardiomyopathy, driven by myocardial fibrosis, may explain some of these cardiac features. Given the complexity of cardiac pathology in SCA, using additional parameters to tricuspid regurgitant jet velocity (left atrial volume, diastolic parameters, NT-proBNP) may improve the accuracy of noninvasive screening for cardiopulmonary complications in SCA...
April 28, 2017: Pediatric Blood & Cancer
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