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1.
Eur J Endocrinol ; 182(3): C9-C12, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31972544

RESUMO

Primary adrenal insufficiency (PAI) in children is mostly due to genetic defects. The understanding of the molecular genetics of the causes of adrenal insufficiency in the pediatric population has made significant progress during the last years. It has been shown that inherited PAI can lead to certain clinical manifestations and health problems in children beyond the adrenals. Organ dysfunctions associated with different forms of PAI in children include a wide range of organs such as gonads, brain, heart, bone, growth, bone marrow, kidney, skin, parathyroid, and thyroid. Diagnosing the correct genetic cause of PAI in children is therefore crucial to adequately control long-term treatment and follow-up in such patients.


Assuntos
Doença de Addison/genética , Hiperplasia Suprarrenal Congênita/genética , Doença de Addison/complicações , Doença de Addison/diagnóstico , Doença de Addison/fisiopatologia , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/fisiopatologia , Doenças do Desenvolvimento Ósseo/etiologia , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/fisiopatologia , Encefalopatias/etiologia , Encefalopatias/genética , Encefalopatias/fisiopatologia , Cardiomiopatias/etiologia , Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/fisiopatologia , Transtornos do Crescimento/etiologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Hipoadrenocorticismo Familiar/complicações , Hipoadrenocorticismo Familiar/diagnóstico , Hipoadrenocorticismo Familiar/genética , Hipoadrenocorticismo Familiar/fisiopatologia , Síndromes de Imunodeficiência/etiologia , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/fisiopatologia , Técnicas de Diagnóstico Molecular , Síndrome Nefrótica/etiologia , Síndrome Nefrótica/genética , Síndrome Nefrótica/fisiopatologia , Dermatopatias/etiologia , Dermatopatias/genética , Dermatopatias/fisiopatologia
2.
Angiol Sosud Khir ; 25(4): 7-26, 2019.
Artigo em Inglês, Russo | MEDLINE | ID: mdl-31855197

RESUMO

Ischemic cardiomyopathy is becoming a leading cause of morbidity and mortality in the whole world. Stem cell-based therapy is emerging as a promising option for treatment of ischemic cardiomyopathy. Several stem cell types, including cardiac-derived stem cells, bone marrow-derived stem cells, mesenchymal stem cells, skeletal myoblasts, CD34+ and CD133+ stem cells have been used in clinical trials. Clinical effects mostly depend on transdifferentiation and paracrine factors. One important issue is that a low survival and residential rate of transferred stem cells blocks the effective advances in cardiac improvement. Many other factors associated with the efficacy of cell replacement therapy for ischemic cardiomyopathy mainly including the route of delivery, the type and number of stem cell infusion, the timing of injection, patient's physical conditions, the particular microenvironment onto which the cells are delivered, and clinical conditions remain to be addressed. Here we provide an overview of modern methods of stem cell delivery, types of stem cells and discuss the current state of their therapeutic potential.


Assuntos
Cardiomiopatias/terapia , Isquemia Miocárdica/complicações , Transplante de Células-Tronco/métodos , Cardiomiopatias/etiologia , Humanos
4.
Int Heart J ; 60(6): 1441-1443, 2019 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-31666456

RESUMO

Hereditary ATTR amyloid cardiomyopathy is defined as the intramyocardial deposition of amyloid fibrils derived from the mutation of transthyretin (TTR). A 51-year-old man was referred to our hospital for congestive heart failure. He and his family had no past history of heart diseases. Echocardiography showed remarkable left ventricular hypertrophy and reduced ejection fraction. Endomyocardial biopsy specimens presented positive staining of Congo-Red and transthyretin. A genetic test showed heterozygous V122I TTR gene mutation, which is very rare in Japan. We diagnosed him as with sporadic ATTR amyloidosis with mutation, and tafamidis was administered to stabilize TTR tetramer. Since the phenotype of ATTR amyloidosis varies depending on its penetration rate, it is crucial to always keep in mind the possibility of hereditary ATTR amyloidosis even in the case of amyloidosis with no clear family history.


Assuntos
Neuropatias Amiloides Familiares/diagnóstico , Cardiomiopatias/etiologia , Mutação/genética , Pré-Albumina/genética , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/genética , Humanos , Masculino , Pessoa de Meia-Idade
5.
Cardiol Rev ; 27(6): 322-326, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31584474

RESUMO

Premature ventricular contractions (PVCs) are a common arrhythmia that may cause symptoms of variable severity. PVCs have recently garnered interest in their ability to induce adverse structural heart remodeling in an entity known as PVC-induced cardiomyopathy. This entity is a retrospective diagnosis that likely remains under-recognized and may occur concurrently with other forms of cardiomyopathy. The appropriate identification and management of PVCs in the setting of associated cardiomyopathy may have a significant impact on cardiac function and the clinical course, including recovery of left ventricular ejection fraction and improvement in patient functional status. Treatment consists of catheter ablation and/or antiarrhythmic drug therapy, but continued monitoring and follow-up are required, as the recurrence of high PVC burden may lead to redevelopment of cardiomyopathy.


Assuntos
Cardiomiopatias/etiologia , Complexos Ventriculares Prematuros/complicações , Feminino , Insuficiência Cardíaca , Humanos , Masculino , Volume Sistólico , Função Ventricular Esquerda , Complexos Ventriculares Prematuros/fisiopatologia
6.
Cardiol Clin ; 37(4): 487-495, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31587789

RESUMO

Light chain amyloidosis is a deadly disease in which a monoclonal plasma cell dyscrasia produces misfolded immunoglobulin light chains (AL) that aggregate and form rigid amyloid fibrils. The amyloid deposits infiltrate one or more organs, leading to injury and severe dysfunction. The degree of cardiac involvement is a major driver of morbidity and mortality. Early diagnosis and treatment are crucial to prevent irreversible end-organ damage and improve overall survival. Treatment of AL cardiac amyloidosis involves eliminating the underlying plasma cell dyscrasia with chemotherapy and pursuing supportive heart failure management.


Assuntos
Amiloidose , Cardiomiopatias , Gerenciamento Clínico , Diagnóstico Precoce , Paraproteinemias/complicações , Amiloidose/diagnóstico , Amiloidose/etiologia , Amiloidose/terapia , Cardiomiopatias/diagnóstico , Cardiomiopatias/etiologia , Cardiomiopatias/terapia , Humanos , Paraproteinemias/diagnóstico
7.
Transplant Proc ; 51(9): 3174-3177, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31619345

RESUMO

A 19-year-old Asian woman presented to the emergency department with ventricular fibrillation. Emergent coronary angiography revealed a 99% ostial stenosis of the left main coronary trunk, and percutaneous coronary intervention was performed. Takayasu arteritis was suspected, but fluorodeoxyglucose positron emission tomography scanning showed no active inflammation. Cardiac function was affected by ischemic cardiomyopathy, and an extracorporeal left ventricular assisted device was implanted under INTERMACS profile 1 status. Histopathology of the ascending aortic wall at the outflow anastomosis site showed no significant sign of Takayasu arteritis. The absence of systemic inflammation led to the replacement of the extracorporeal left ventricular assisted device with a Jervik 2000 as a bridge to transplant. An orthotropic heart transplant took place after a 39-month wait. Histopathology of the explanted heart revealed intimal and adventitial thickening with destruction of the elastic lamina localized at the sinus of Valsalva. Our final pathologic diagnosis was localized Takayasu arteritis. To counter the increased risk of stenosis or pseudoaneurysm formation at the vascular anastomosis site, anti-inflammatory therapy was essential in Takayasu arteritis. The post-heart transplant immunosuppression regime was considered stronger than that for Takayasu arteritis, and we therefore administered prednisolone, mycophenolate mofetil, and tacrolimus as standard protocol. There have been no signs of either relapse or rejection of transplantation for over 1 year. Further closed observation is required to clarify the long-term outcome of this rare condition with regard to heart transplantation.


Assuntos
Cardiomiopatias/etiologia , Cardiomiopatias/cirurgia , Transplante de Coração , Seio Aórtico/patologia , Arterite de Takayasu/complicações , Arterite de Takayasu/patologia , Feminino , Coração Auxiliar , Humanos , Isquemia Miocárdica/etiologia , Isquemia Miocárdica/cirurgia , Adulto Jovem
8.
Int J Mol Sci ; 20(19)2019 Oct 08.
Artigo em Inglês | MEDLINE | ID: mdl-31597354

RESUMO

Cardiac fibrosis is a major cause of cardiac dysfunction in hypertrophic hearts. Differentiated embryonic chondrocyte gene 1 (Dec1), a basic helix-loop-helix transcription factor, has circadian expression in the heart; however, its role in cardiac diseases remains unknown. Therefore, using Dec1 knock-out (Dec1KO) and wild-type (WT) mice, we evaluated cardiac function and morphology at one and four weeks after transverse aortic constriction (TAC) or sham surgery. We found that Dec1KO mice retained cardiac function until four weeks after TAC. Dec1KO mice also revealed more severely hypertrophic hearts than WT mice at four weeks after TAC, whereas no significant change was observed at one week. An increase in Dec1 expression was found in myocardial and stromal cells of TAC-treated WT mice. In addition, Dec1 circadian expression was disrupted in the heart of TAC-treated WT mice. Cardiac perivascular fibrosis was suppressed in TAC-treated Dec1KO mice, with positive immunostaining of S100 calcium binding protein A4 (S100A4), alpha smooth muscle actin (αSMA), transforming growth factor beta 1 (TGFß1), phosphorylation of Smad family member 3 (pSmad3), tumor necrosis factor alpha (TNFα), and cyclin-interacting protein 1 (p21). Furthermore, Dec1 expression was increased in myocardial hypertrophy and myocardial infarction of autopsy cases. Taken together, our results indicate that Dec1 deficiency suppresses cardiac fibrosis, preserving cardiac function in hypertrophic hearts. We suggest that Dec1 could be a new therapeutic target in cardiac fibrosis.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/deficiência , Cardiomiopatias/etiologia , Cardiomiopatias/metabolismo , Obstrução do Fluxo Ventricular Externo/complicações , Animais , Biomarcadores , Cardiomegalia/diagnóstico , Cardiomegalia/etiologia , Cardiomegalia/metabolismo , Cardiomiopatias/diagnóstico , Modelos Animais de Doenças , Ecocardiografia , Fibrose , Expressão Gênica , Testes de Função Cardíaca , Proteínas de Homeodomínio , Masculino , Camundongos , Camundongos Knockout , Infarto do Miocárdio/diagnóstico , Infarto do Miocárdio/etiologia , Infarto do Miocárdio/metabolismo , Obstrução do Fluxo Ventricular Externo/diagnóstico , Remodelação Ventricular
10.
Cardiovasc Pathol ; 43: 107146, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31499334

RESUMO

Myocardial calcification, a rare disease that leads to chronic or acute heart failure and with a poor prognosis, occurs in patients with abnormal calcium-phosphorus metabolism. The association between myocardial calcification and tumor lysis syndrome has not been reported to date. A 50-year-old man with hyperthermia and general malaise presented to our hospital and was clinically diagnosed with B-lymphoblastic leukemia (B-ALL) and febrile neutropenia accompanied by septic shock. Prednisolone was administered for tumor reduction. Two to three hours later, electrocardiography demonstrated ST elevation in V4-6, and blood tests showed elevated levels of cardiac enzymes. Transthoracic echocardiogram revealed diffuse severe hypokinesis with decreased left ventricular ejection fraction. Additionally, blood tests showed that serum phosphorus level increased to 8.0 mg/dl, which was likely due to tumor lysis syndrome. Circulatory and respiratory failure due to left heart failure progressed, and he died 3 days after administration of prednisolone. Pathological autopsy revealed diffuse proliferation of atypical B-lymphoblasts in the bone marrow, which led to the pathological diagnosis of B-ALL, accompanied by necrosis. On the cut surface of the heart, the left ventricle was dilated, and patchy yellowish-brown areas were present in the epicardial-side of the myocardium and spread through the circumferential wall of the left ventricle and interventricular septum. Microscopically, myocardial fibers were granularly basophilic in that area and were revealed as calcium deposits by Von Kossa staining. He was diagnosed with myocardial calcification. The drastic increase in the serum phosphorus level caused by tumor lysis syndrome seemed to be associated with myocardial calcification.


Assuntos
Antineoplásicos/efeitos adversos , Calcinose/etiologia , Cardiomiopatias/etiologia , Miocárdio/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras B/tratamento farmacológico , Prednisolona/efeitos adversos , Síndrome de Lise Tumoral/etiologia , Autopsia , Biomarcadores/sangue , Calcinose/sangue , Calcinose/patologia , Cardiomiopatias/sangue , Cardiomiopatias/patologia , Causas de Morte , Evolução Fatal , Humanos , Masculino , Pessoa de Meia-Idade , Miocárdio/metabolismo , Fósforo/sangue , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patologia , Síndrome de Lise Tumoral/sangue , Síndrome de Lise Tumoral/patologia , Regulação para Cima
11.
World Neurosurg ; 131: 104-107, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31369882

RESUMO

BACKGROUND: Transthyretin wild-type (ATTRwt) amyloidosis is a systemic process resulting in deposition of misfolded transthyretin protein in several different tissues throughout the body. It is known to be a cause of progressive, life-threatening cardiomyopathy and lumbar spinal stenosis and carpal tunnel syndrome. CASE DESCRIPTION: Here we present the case of a 71-year-old man who has clinical manifestations of all 3 entities over several years, providing a picture of the natural history of ATTRwt amyloidosis. This patient eventually underwent a heart transplant because of progressive cardiac amyloidosis (CA) resulting in end-stage heart failure. However, symptoms in carpal tunnel and lumbar spine manifested years before the symptoms of heart failure. ATTRwt amyloidosis may present as a clinical triad of lumbar stenosis, carpal tunnel syndrome, and heart failure. Recently developed medications have shown efficacy in slowing the progress of systemic and cardiac amyloidosis. CONCLUSIONS: Knowing that extracardiac symptoms may occur first, we propose that sending ligamentum flavum and flexor tenosynovium for pathologic evaluation may be a unique opportunity to screen and treat a population of patients at risk for developing CA and heart failure.


Assuntos
Neuropatias Amiloides Familiares/patologia , Ligamento Amarelo/diagnóstico por imagem , Vértebras Lombares , Estenose Espinal/diagnóstico por imagem , Idoso , Neuropatias Amiloides Familiares/complicações , Cardiomiopatias/etiologia , Cardiomiopatias/cirurgia , Síndrome do Túnel Carpal/etiologia , Síndrome do Túnel Carpal/cirurgia , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/cirurgia , Transplante de Coração , Humanos , Ligamento Amarelo/patologia , Ligamento Amarelo/cirurgia , Masculino , Estenose Espinal/etiologia , Estenose Espinal/cirurgia
12.
Redox Biol ; 26: 101287, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31386965

RESUMO

The basic pathophysiological mechanisms underlying septic cardiomyopathy have not yet been completely clarified. Disease-specific treatments are lacking, and care is still based on supportive modalities. The aim of our study was to assess the protective effects of melatonin on septic cardiomyopathy, with a focus on the interactions between receptor-interacting protein kinase 3 (Ripk3), the mitochondria, endoplasmic reticulum (ER) and cytoskeletal degradation in cardiomyocytes. Ripk3 expression was increased in heart samples challenged with LPS, followed by myocardial inflammation, cardiac dysfunction, myocardial breakdown and cardiomyocyte death. The melatonin treatment attenuated septic myocardial injury in a comparable manner to the genetic depletion of Ripk3. Molecular investigations revealed that Ripk3 intimately regulated mitochondrial function, ER stress, cytoskeletal homeostasis and cardioprotective signaling pathways. Melatonin-mediated inhibition of Ripk3 improved mitochondrial bioenergetics, reduced mitochondria-initiated oxidative damage, sustained mitochondrial dynamics, ameliorated ER stress, normalized calcium recycling, and activated cardioprotective signaling pathways (including AKT, ERK and AMPK) in cardiomyocytes. Interestingly, Ripk3 overexpression mediated resistance to melatonin therapy following the infection of LPS-treated hearts with an adenovirus expressing Ripk3. Altogether, our findings identify Ripk3 upregulation as a novel risk factor for the development of sepsis-related myocardial injury, and melatonin restores the physiological functions of the mitochondria, ER, contractile cytoskeleton and cardioprotective signaling pathways. Additionally, our data also reveal a new, potentially therapeutic mechanism by which melatonin protects the heart from sepsis-mediated dysfunction, possibly by targeting Ripk3.


Assuntos
Cardiomiopatias/etiologia , Cardiomiopatias/metabolismo , Retículo Endoplasmático/efeitos dos fármacos , Retículo Endoplasmático/metabolismo , Melatonina/farmacologia , Proteína Serina-Treonina Quinases de Interação com Receptores/genética , Sepse/complicações , Cardiomiopatias/tratamento farmacológico , Cardiomiopatias/patologia , Cardiotônicos/farmacologia , Citoesqueleto/metabolismo , Estresse do Retículo Endoplasmático/efeitos dos fármacos , Deleção de Genes , Humanos , Lipopolissacarídeos/imunologia , Miócitos Cardíacos/efeitos dos fármacos , Miócitos Cardíacos/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Transdução de Sinais/efeitos dos fármacos
13.
Int Immunopharmacol ; 75: 105782, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31376623

RESUMO

Sepsis-induced myocardial dysfunction (SIMD) is a manifestation of severe sepsis and is the main cause of increased mortality in sepsis patients. Naringin (Nar) has been reported to possess various biological activities and pharmacological properties. Therefore, the present study was undertaken to evaluate whether Nar can protect rats from the effects of LPS-induced SIMD. SD Rats were pre-treated with Nar (50 and 100 mg/kg) for 7 days before administration of a single dose of LPS (10 mg/kg, i.p.) on the seventh day. We found that Nar treatment markedly improved the global strain and strain rate of longitudinal, circumference, and radial direction (GLS/GLSr, GCS/GCSr, GRS/GRSr) compared to the LPS group. The layer-specific strain decreased gradually from the endocardial layer to epicardial layer, and the most serious damage occurred in the endocardial layer. Moreover, Nar significantly decreased the levels of pro-inflammatory cytokines (TNF-α, IL-1ß, and IL-6) and myocardial enzymes (CK, LDH, and AST) induced by LPS and attenuated the inflammation response. Finally, Nar also inhibited NF-κB nuclear translocation and the activity of iNOS in H9c2 cardiomyocytes by activating PI3K/AKT signaling pathway. These results suggest that naringin may possess novel therapeutic potential for protection against LPS-induced myocardial dysfunction.


Assuntos
Cardiomiopatias/tratamento farmacológico , Cardiotônicos/uso terapêutico , Flavanonas/uso terapêutico , Sepse/tratamento farmacológico , Disfunção Ventricular Esquerda/tratamento farmacológico , Animais , Cardiomiopatias/etiologia , Cardiomiopatias/metabolismo , Cardiomiopatias/patologia , Cardiotônicos/farmacologia , Linhagem Celular , Citocinas/genética , Flavanonas/farmacologia , Lipopolissacarídeos , Masculino , Miocárdio/metabolismo , Miocárdio/patologia , NF-kappa B/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Ratos Sprague-Dawley , Sepse/complicações , Sepse/metabolismo , Sepse/fisiopatologia , Disfunção Ventricular Esquerda/induzido quimicamente , Disfunção Ventricular Esquerda/metabolismo , Disfunção Ventricular Esquerda/fisiopatologia
14.
Rev Inst Med Trop Sao Paulo ; 61: e39, 2019 Aug 08.
Artigo em Inglês | MEDLINE | ID: mdl-31411269

RESUMO

Acute petrified myocardium associated with septic shock, diagnosed by autopsy has rarely been described. A 15-year-old adolescent male was diagnosed with childhood-onset systemic lupus erythematosus. One year later, he was hospitalized with fever, myalgia, headache, arthritis, vomiting, dyspnea and was diagnosed with sepsis secondary to bronchopneumonia and meningitis. Blood culture identified Neisseria meningitidis serogroup Y. Despite antibiotics and intensive therapeutic measures, he died after 29 days of hospitalization. The autopsy revealed necrotic cardiomyocytes with dystrophic calcification and interstitial fibrosis.


Assuntos
Calcinose/etiologia , Cardiomiopatias/etiologia , Lúpus Eritematoso Sistêmico/complicações , Infecções Meningocócicas/complicações , Sepse/complicações , Adolescente , Calcinose/diagnóstico por imagem , Calcinose/patologia , Cardiomiopatias/diagnóstico por imagem , Cardiomiopatias/patologia , Evolução Fatal , Humanos , Masculino
15.
Int J Mol Sci ; 20(17)2019 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-31438494

RESUMO

Human variants in plakophilin-2 (PKP2) associate with most cases of familial arrhythmogenic cardiomyopathy (ACM). Recent studies show that PKP2 not only maintains intercellular coupling, but also regulates transcription of genes involved in Ca2+ cycling and cardiac rhythm. ACM penetrance is low and it remains uncertain, which genetic and environmental modifiers are crucial for developing the cardiomyopathy. In this study, heterozygous PKP2 knock-out mice (PKP2-Hz) were used to investigate the influence of exercise, pressure overload, and inflammation on a PKP2-related disease progression. In PKP2-Hz mice, protein levels of Ca2+-handling proteins were reduced compared to wildtype (WT). PKP2-Hz hearts exposed to voluntary exercise training showed right ventricular lateral connexin43 expression, right ventricular conduction slowing, and a higher susceptibility towards arrhythmias. Pressure overload increased levels of fibrosis in PKP2-Hz hearts, without affecting the susceptibility towards arrhythmias. Experimental autoimmune myocarditis caused more severe subepicardial fibrosis, cell death, and inflammatory infiltrates in PKP2-Hz hearts than in WT. To conclude, PKP2 haploinsufficiency in the murine heart modulates the cardiac response to environmental modifiers via different mechanisms. Exercise upon PKP2 deficiency induces a pro-arrhythmic cardiac remodeling, likely based on impaired Ca2+ cycling and electrical conduction, versus structural remodeling. Pathophysiological stimuli mainly exaggerate the fibrotic and inflammatory response.


Assuntos
Cálcio/metabolismo , Cardiomiopatias/metabolismo , Haploinsuficiência/fisiologia , Doença Autoimune do Sistema Nervoso Experimental/etiologia , Doença Autoimune do Sistema Nervoso Experimental/metabolismo , Placofilinas/metabolismo , Animais , Western Blotting , Cardiomiopatias/etiologia , Cardiomiopatias/patologia , Ecocardiografia , Eletrocardiografia , Fibrose/etiologia , Fibrose/metabolismo , Fibrose/patologia , Haploinsuficiência/genética , Imuno-Histoquímica , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Doença Autoimune do Sistema Nervoso Experimental/patologia , Placofilinas/genética , Reação em Cadeia da Polimerase
16.
Medicine (Baltimore) ; 98(32): e16642, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31393361

RESUMO

RATIONALE: Tachycardia-induced cardiomyopathy (TIC) is defined as systolic and/or diastolic dysfunction of the left ventricle resulting from prolonged elevated heart rates, completely reversible upon control of the arrhythmia. Atrioventricular reentrant tachycardia (AVRT) is one of the most frequent causes of TIC. In its incessant form, it is unlikely to be controlled by pharmacological treatment, catheter ablation being the principal therapeutic option. The coexistence of left bundle branch block (LBBB) in patients with AVRT may cause difficulties in the early diagnosis and management of tachycardia because of the wide complex morphology, making it harder to localize the accessory pathway (AP). PATIENT CONCERNS: A 60-year-old woman, presented incessant episodes of palpitations and shortness of breath due to a LBBB tachycardia leading to hemodynamic instability. DIAGNOSIS: The patient had a wide QRS tachycardia, with LBBB morphology and a heart rate of 160/minute. Echocardiography showed global hypokinesia with 25% left ventricular ejection fraction (LVEF). Considering the patient's clinical picture, TIC was suspected. INTERVENTIONS: The electrophysiological study revealed a left lateral accessory pathway. Catheter ablation was successfully performed at the level of the lateral mitral ring. OUTCOMES: One week after the ablation the patient had no signs of heart failure and the LVEF normalized to 55%. During 6-months follow-up the patient presented no more episodes of tachycardia or heart failure and the LVEF remained normal. LESSONS: AVRT is rarely associated with intrinsic LBBB, being a potential cause of TIC. In these patients, it is unlikely to control the arrhythmia pharmacologically, catheter ablation being the best therapeutic option. The variation of QRS complex duration between LBBB pattern in SR and AVRT could be useful for early diagnosis of an ipsilateral AP on surface ECG.


Assuntos
Bloqueio de Ramo/cirurgia , Ablação por Cateter/métodos , Taquicardia por Reentrada no Nó Atrioventricular/cirurgia , Bloqueio de Ramo/complicações , Bloqueio de Ramo/diagnóstico , Cardiomiopatias/diagnóstico , Cardiomiopatias/etiologia , Ecocardiografia , Eletrocardiografia , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Volume Sistólico , Taquicardia por Reentrada no Nó Atrioventricular/complicações
17.
Int J Mol Sci ; 20(17)2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31443395

RESUMO

Duchenne muscular dystrophy (DMD) is a devastating disease featuring skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. Historically, respiratory failure has been the leading cause of mortality in DMD, but recent improvements in symptomatic respiratory management have extended the life expectancy of DMD patients. With increased longevity, the clinical relevance of heart disease in DMD is growing, as virtually all DMD patients over 18 year of age display signs of cardiomyopathy. This review will focus on the pathophysiological basis of DMD in the heart and discuss the therapeutic approaches currently in use and those in development to treat dystrophic cardiomyopathy. The first section will describe the aspects of the DMD that result in the loss of cardiac tissue and accumulation of fibrosis. The second section will discuss cardiac small molecule therapies currently used to treat heart disease in DMD, with a focus on the evidence supporting the use of each drug in dystrophic patients. The final section will outline the strengths and limitations of approaches directed at correcting the genetic defect through dystrophin gene replacement, modification, or repair. There are several new and promising therapeutic approaches that may protect the dystrophic heart, but their limitations suggest that future management of dystrophic cardiomyopathy may benefit from combining gene-targeted therapies with small molecule therapies. Understanding the mechanistic basis of dystrophic heart disease and the effects of current and emerging therapies will be critical for their success in the treatment of patients with DMD.


Assuntos
Cardiomiopatias/etiologia , Distrofia Muscular de Duchenne/complicações , Animais , Cálcio/metabolismo , Cardiomiopatias/diagnóstico , Cardiomiopatias/terapia , Gerenciamento Clínico , Suscetibilidade a Doenças , Distrofina/genética , Éxons , Fibrose , Terapia Genética , Humanos , Mitocôndrias/genética , Mitocôndrias/metabolismo , Terapia de Alvo Molecular , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , Óxido Nítrico/metabolismo , Espécies Reativas de Oxigênio/metabolismo
18.
Intern Med ; 58(21): 3189-3194, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31292376

RESUMO

A 69-year-old Japanese woman was admitted to our hospital with progressive muscle weakness and dysphagia. She was taking pitavastatin for dyslipidemia. Her serum creatine kinase was 6,300 U/L. Pitavastatin was stopped, but her symptoms deteriorated, and cardiac congestion appeared. A muscle biopsy showed necrotizing myopathy (NM), and anti-signal recognition particle (SRP) antibody was positive. 18F-fluorodeoxyglucose-positron emission tomography showed an abnormal uptake, and magnetic resonance imaging showed abnormal gadolinium enhancement in the left ventricular wall. An endomyocardial biopsy revealed inflammatory cardiomyopathy. Steroid, tacrolimus, and intravenous immunoglobulins were effective against the symptoms. This is the first case of biopsy-proven secondary cardiomyopathy due to anti-SRP-positive NM.


Assuntos
Cardiomiopatias/etiologia , Imagem Multimodal , Músculo Esquelético/patologia , Doenças Musculares/patologia , Idoso , Autoanticorpos/sangue , Biópsia , Cardiomiopatias/diagnóstico por imagem , Meios de Contraste , Ecocardiografia , Feminino , Gadolínio , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Imunossupressores/uso terapêutico , Imagem por Ressonância Magnética , Debilidade Muscular/patologia , Doenças Musculares/complicações , Doenças Musculares/diagnóstico por imagem , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Partícula de Reconhecimento de Sinal/imunologia , Tacrolimo/uso terapêutico
20.
Int J Cardiovasc Imaging ; 35(12): 2213-2219, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31321653

RESUMO

Cardiac MR (CMR) is increasingly used to assess for cardiac involvement in patients with Duchenne muscular dystrophy (DMD). The frequent use of gadolinium based contrast agents (GBCAs) has been called into question with reports of intracranial gadolinium deposition in patients receiving multiple administrations. We adopted a conservative GBCA administration policy, limiting the frequency of GBCA exposure in patients with previously documented late gadolinium enhancement. The aim of our study was to evaluate the clinical effects of this policy change. Data were retrospectively reviewed on 405 consecutive patients with DMD who underwent CMR evaluation. Patients were grouped into conservative GBCA administration or historical control. CMR reports were evaluated and clinical reports were reviewed to determine actionable changes. Ohio Medicaid reimbursements were used to estimate costs. A total of 187 patients comprised the conservative GBCA group and 218 patients the historical cohort. The conservative GBCA group had lower contrast administration rates (84% vs. 99%, p < 0.0001), shorter scan times (35.2 vs. 39.0 min, p < 0.0001), and lower estimated medical costs ($339 vs. $351/study). There was no change regarding the initial presence of first-time late gadolinium enhancement, and no difference in actionable change. Contrast administration substantially decreased 7 months post-policy change (65%) compared to the initial 7 months (96%, p < 0.0001). In the current era with unclear concern for intracranial gadolinium deposition, thoughtful GBCA administration is warranted in patients anticipated to undergo multiple CMRs. Our updated approach has resulted in fewer patients receiving contrast, shorter scan times, and less medical costs, without appreciable changes to patient management.


Assuntos
Cardiomiopatias/diagnóstico por imagem , Meios de Contraste/administração & dosagem , Imagem Cinética por Ressonância Magnética , Meglumina/administração & dosagem , Distrofia Muscular de Duchenne/complicações , Compostos Organometálicos/administração & dosagem , Adolescente , Cardiomiopatias/economia , Cardiomiopatias/etiologia , Criança , Meios de Contraste/economia , Redução de Custos , Análise Custo-Benefício , Feminino , Custos de Cuidados de Saúde , Humanos , Imagem Cinética por Ressonância Magnética/economia , Masculino , Meglumina/economia , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/economia , Compostos Organometálicos/economia , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Tempo , Fluxo de Trabalho
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