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1.
Curr Cardiol Rep ; 22(2): 10, 2020 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-31993794

RESUMO

PURPOSE OF REVIEW: The management of hypertrophic cardiomyopathy (HCM) has changed considerably over the years, although molecular therapies targeting core mechanisms of the disease are still lacking. This review provides an overview of the contemporary medical approach to patients with HCM, and of promising novel developments hopefully soon to enter the clinical arena. RECENT FINDINGS: Our perception of therapeutic targets for medical therapy in HCM is rapidly evolving. Novel approaches include myocardial metabolic modulation, late sodium current inhibition, and allosteric myosin inhibition, actively pursued to reduce and hopefully prevent the development of severe HCM phenotypes, improve symptom control, and preserve patients from disease-related complications. Clinical management of patients with HCM should be guided by in-depth knowledge of the complex mechanisms at the energetic, metabolic, and electrophysiologic level. Until new experimental therapies become available, tailored management of modifiable disease manifestations should be pursued, including lifestyle counseling and prevention of comorbidities.


Assuntos
Cardiomiopatia Hipertrófica/terapia , Bloqueadores dos Canais de Sódio , Humanos , Miocárdio
3.
Arkh Patol ; 81(6): 5-15, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31851187

RESUMO

Hypertrophic cardiomyopathy (HCM) is a congenital disease caused by mutations in a number of sarcomere proteins. According to the type of mutation, clinical observations record similar clinical manifestations, myocardial pathological changes, and the timing of manifestation of the disease in HCM patients. OBJECTIVE: To study cardiomyocyte (CMC) ultrastructural changes in the interventricular septum (IVS) of patients with HCM and evaluate their specificity for this pathology. MATERIAL AND METHODS: IVS myocardial samples taken from 44 HCM patients aged 18-59 years at IVS myoectomy underwent an electron microscopic study. The diameter of CMCs and their nuclei was measured in semithin sections. RESULTS: A morphometric examination of the IVS myocardium in HCM patients revealed moderate hypertrophy of CMCs and their nuclei, the diameters of which averaged 23.7±4.4 and 5.2±0.9 µm, respectively. The IVS CMCs were characterized by the ultrastructural signs of hypertrophy: the larger size and number of structures ensuring contractile and synthetic functions; the myocytes contained higher amounts of myofibrils, intermyofibrillar mitochondria, granular endoplasmic reticulum cisterns, and free ribosomes. On the contrary, some CMCs had fewer myofibrils in the perinuclear region, which is an adaptive change under hemodynamic overload conditions. In addition, a number of myocytes displayed signs of dystrophic changes: the appearance of lipofuscin granules, myelin figures, phagosomes, lipid droplets, and vacuoles, which can fill all free sarcoplasmic zones. CONCLUSION: Ultrastructural changes characteristic of hypertrophy were found in IVS CMCs in HCM patients. In addition, there was partial myofibrillar loss and dystrophic changes in a number of myocytes, which are stereotypic compensatory-adaptive changes under hemodynamic overload conditions. All the above-mentioned changes in the CMC ultrastructure are characteristic of myocardial hypertrophy, but not specific for hypertrophic cardiomyopathy.


Assuntos
Cardiomiopatia Hipertrófica , Septo Interventricular , Adolescente , Adulto , Humanos , Pessoa de Meia-Idade , Miocárdio , Miócitos Cardíacos , Miofibrilas , Adulto Jovem
4.
Zhonghua Xin Xue Guan Bing Za Zhi ; 47(12): 956-962, 2019 Dec 24.
Artigo em Chinês | MEDLINE | ID: mdl-31877590

RESUMO

Objective: To investigate the incidence and clinical characteristics of left atrial appendage (LAA) thrombus in patients with hypertrophic cardiomyopathy (HCM) and non-valvular atrial fibrillation (AF) . Methods: Data from 10 440 patients with AF who had undergone transesophageal echocardiography (TEE) before cardioversion or catheter ablation at Beijing Anzhen Hospital from April 2006 to December 2018 were retrospectively screened. Two hundred and five HCM patients were included, 820 AF patients with the same CHA(2)DS(2)-VASc score over the same period were selected as the control group. HCM patients were divided into two subgroups based on presence or absence of LAA thrombus/sludge. The baseline of clinical information, transthoracic echocardiographic and TEE measures were compared among all the groups. Receiver operating characteristic (ROC) curve was used to evaluate the diagnostic value of left atrial diameter (LAD) for LAA thrombus/sludge. Multivariate logistic regression analysis was applied to analyze the correlative factors of LAA thrombus/sludge in HCM patients. Results: The incidences of LAA thrombus or sludge were higher in HCM group than in control group (10.7% (22/205) vs. 0.7% (6/820); 8.8% (18/205) vs.7.0% (57/820), P<0.001) . In HCM patients, LAD was significantly larger in LAA thrombus/sludge subjects than in those without thrombus/sludge ((48.9±5.1)mm vs. (45.2±6.1) mm, P<0.001). CHA(2)DS(2)-VASc score was similar between the two subgroups ((2.0±1.4) vs. (1.8±1.4), P>0.05). There was no difference in the rate of patients with a CHA(2)DS(2)-VASc scores ≥2 between the subgroups(62.5% (25/40) vs. 57.0% (94/165), P=0.525). The incidences of LAA thrombus in HCM and AF patients with CHA(2)DS(2)-VASc scores of 0, 1 and 2 were 8.8% (3/34) , 9.6% (5/52) , 11.8% (11/119) , respectively; and the rate of LAA sludge were 8.8% (3/52) , 7.7% (4/52) , 9.2% (11/119) , respectively. The cut off value of LAD for the diagnosis of LAA thrombus/sludge was 44.5 mm. Multivariate logistic regression analysis showed that LAD≥44.5 mm (OR=5.134, 95%CI 1.862-14.156, P=0.002) , non-paroxysmal AF (OR=2.782, 95%CI 1.238-6.252, P=0.013) , previous thromboembolism or stroke (OR=1.820, 95%CI 0.774-4.227, P=0.017) were independent determinants of LAA thrombus/sludge. Conclusions: The incidence of LAA thrombus/sludge is higher in patients with HCM and AF than in AF patients without HCM. The CHA(2)DS(2)-VASc score is similar between HCM and AF patients with LAA thrombus/sludge and those without thrombus/sludge. Patients with CHA(2)DS(2)-VASc score 0-1 are also likely to suffer LAA thrombus/sludge. Left atrial enlargement is associated with LAA thrombus/sludge.


Assuntos
Apêndice Atrial , Fibrilação Atrial , Cardiomiopatia Hipertrófica , Trombose , Ecocardiografia Transesofagiana , Humanos , Estudos Retrospectivos , Fatores de Risco
7.
Pol Merkur Lekarski ; 47(280): 144-149, 2019 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-31760397

RESUMO

Transient left ventricular hypertrophy or thickening (TLVH/T) is a phenomenon rarely observed in some patients with myocarditis and stress-induced takotsubo syndrome (TTS). Initial presentation on echocardiography can mimic hypertrophic cardiomyopathy (HCM), sometimes with a decreased ejection fraction (EF). A CASE REPORT: The authors describe TLVH/T in a 30-year-old female with a history of chronic emotional stress and depression treated with venlafaxine (75 mg twice a day). She suffered from spinocerebellar ataxia (SCA) and, because of a family conflict, was living alone with a daughter who was diagnosed with maple syrup urine disease (MSUD). At admission, she presented with advanced heart failure with pulmonary congestion, moderately elevated blood pressure, ECG signs of LV hypertrophy (with negative T waves in leads: I-III, aVF, V4- 6) and with mild troponin I and high BNP elevation. Echocardiography revealed hypertrophy of the LV myocardium, systolic dysfunction and a small pericardial effusion. She denied any chest pain; there were no clinical features of infection or connective tissue disorder. Genetic nature of the patient's SCA and of her daughter's MSUD gave rise to a suspicion that she had coexistent HCM. She received therapy with ramipril, carvedilol and diuretics; venlafaxine was not discontinued. Cardiac magnetic resonance (CMR) performed a month later showed LV thickening to be a little smaller, absence of late gadolinium enhancement and an improvement of EF; T2-weighted images were not studied. Unexpectedly, after several months, LV hypertrophy disappeared in subsequent ECG, echocardiography and CMR; simultaneously, EF as well as regional and longitudinal strain returned to normal values.


Assuntos
Antidepressivos de Segunda Geração , Cardiomiopatia Hipertrófica , Depressão , Hipertrofia Ventricular Esquerda , Estresse Psicológico , Cloridrato de Venlafaxina , Adulto , Antidepressivos de Segunda Geração/uso terapêutico , Meios de Contraste , Depressão/complicações , Depressão/tratamento farmacológico , Feminino , Gadolínio , Humanos , Hipertrofia Ventricular Esquerda/complicações , Hipertrofia Ventricular Esquerda/diagnóstico , Cloridrato de Venlafaxina/uso terapêutico
8.
Int Heart J ; 60(6): 1435-1440, 2019 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-31735771

RESUMO

Hypertrophic cardiomyopathy with left ventricular (LV) mid-cavity obstruction and LV apical aneurysm is associated with high morbidity and mortality rates. However, consensus is lacking on the treatment modality for LV mid-cavity obstruction and LV apical aneurysm. Here, we report a case of reduced LV mid-cavity pressure gradient and symptoms, treated using permanent pacing. The effect of permanent pacing on pressure gradient and symptoms lasted for 4 years. As pacing is relatively non-invasive compared to surgical therapy, permanent pacing is a good option, especially in the elderly patients with LV mid-cavity obstruction and apical aneurysm.


Assuntos
Estimulação Cardíaca Artificial , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/terapia , Aneurisma Cardíaco/complicações , Disfunção Ventricular Esquerda/complicações , Obstrução do Fluxo Ventricular Externo/complicações , Idoso , Cardiomiopatia Hipertrófica/diagnóstico , Feminino , Aneurisma Cardíaco/diagnóstico , Aneurisma Cardíaco/terapia , Humanos , Marca-Passo Artificial , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/terapia , Obstrução do Fluxo Ventricular Externo/diagnóstico , Obstrução do Fluxo Ventricular Externo/terapia
9.
EMBO Mol Med ; 11(12): e11502, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31736275

RESUMO

The advent of pluripotent stem cell biology and facile genetic manipulation via CRISPR technology has ushered in a new era of human disease models for drug discovery and development. While these precision "super models" hold great promise for tailoring personalized therapy, their full potential and in vivo validation have remained elusive.


Assuntos
Cardiomiopatia Hipertrófica , Células-Tronco Pluripotentes , Actinina , Descoberta de Drogas , Humanos , Mutação
10.
Khirurgiia (Mosk) ; (11): 52-56, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31714530

RESUMO

OBJECTIVE: To analyze in-hospital results of surgical treatment of patients with obstructive hypertrophic cardiomyopathy. MATERIAL AND METHODS: There were 15 patients (8 women and 6 men) with obstructive hypertrophic cardiomyopathy and severe mitral insufficiency for the period from November 2017 to March 2019. Mean age of patients was 55.9±7.1 years. All patients had chronic heart failure NYHA class III and secondary coronary insufficiency. RESULTS: Surgical correction of LVOT obstruction and mitral valve repair with elimination of systolic anterior motion were technically successful in all cases. There was no need for mitral valve replacement in all patients. Heart failure NYHA class I-II in early postoperative period was observed in all cases. CONCLUSION: Careful preoperative planning with a comprehensive analysis of hemodynamic and anatomical features of LV and certain surgical experience are essential for adequate correction of LVOT obstruction without atrioventricular node injury and mitral valve repair.


Assuntos
Cardiomiopatia Hipertrófica/cirurgia , Insuficiência da Valva Mitral/cirurgia , Procedimentos Cirúrgicos Cardíacos/métodos , Cardiomiopatia Hipertrófica/complicações , Feminino , Insuficiência Cardíaca/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência da Valva Mitral/complicações , Resultado do Tratamento , Obstrução do Fluxo Ventricular Externo/complicações , Obstrução do Fluxo Ventricular Externo/cirurgia
11.
Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med ; 27(Special Issue): 671-676, 2019 Aug.
Artigo em Russo | MEDLINE | ID: mdl-31747160

RESUMO

Authors present is comprehensive clinical and instrumental evaluation of patients with HCM with myocardial ischemia. 104 patients (38.4% of men) with HCM were examined, mean age 58.2±14.7. The examination included risk factors assessment for CAD, ECG, Echo, stress ECG test, 24-hour ECG monitoring. In the presence of myocardial ischemia, CAG (n=66) and MSCT of the coronary arteries (CA) (n=4) were performed. All patients were split up on 2 groups: I - 70 HCM patients with myocardial ischemia, 67.3%, and II (the control group) - 34 HCM patients without myocardial ischemia, 32.7%. The group I was divided on 2 subgroups: 1 - 29 patients with coronary atherosclerosis (41.4%), 2 - 41 patient without coronary atherosclerosis (58.6%). Age (p=0.046), family history (p=0.037), higher systolic and diastolic arterial pressure, long-term arterial hypertension (p<0.05) were determined as significant risk factors for CAD. Smaller diameter of LAD (p=0.008), higher LV mass index, greater LV diastolic function disorder (p<0.05) were detected in group 2 compared to group II. The decrease in myocardial perfusion (MBG scale) was associated with high LV mass index and cardiac arrhythmias. The frequency of concomitant coronary atherosclerosis among HCM patients with myocardial ischemia was determined as 41.4%. Analysis of traditional risk factors for CAD in patients with HCM revealed the strong relation to age, aggravated by a family history of CAD, blood pressure level and duration of hypertension. Smaller diameter of LAD, higher LV mass index, greater LV diastolic function disorder were observed in HCM patients with myocardial ischemia without CAD.


Assuntos
Cardiomiopatia Hipertrófica , Doença da Artéria Coronariana , Isquemia Miocárdica , Adulto , Idoso , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Diástole , Humanos , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/diagnóstico , Isquemia Miocárdica/etiologia
12.
Br J Radiol ; 92(1104): 20190634, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31613647

RESUMO

OBJECTIVE: The aim of this study was to examine the local myocardial segments in hypertrophic cardiomyopathy (HCM) by MRI T1 and T2 mapping, and to investigate how tissue remodeling correlates with structural and functional remodeling in HCM. METHODS: 47 patients with HCM and 19 healthy volunteers were enrolled in this study. All subjects underwent cardiac MRI at 3.0 T. Native T1 and T2 values, end-diastolic wall thickness (EDTH), and percentage of systolic wall thickening (PSWT) were assessed in the left ventricular segments according to the American Heart Association model. Myocardial segments were categorized as normal, non-hypertrophic, mild-hypertrophic, moderate-hypertrophic, and severe-hypertrophic based on EDTH. The difference among all five groups, and the correlation between native T1 and T2 values, EDTH, and PSWT were evaluated. RESULTS: Native T1 and T2 values were significantly elevated in both non-hypertrophic and hypertrophic segments of HCM patients compared to controls (both p < 0.001). PSWT was preserved in non-hypertrophic segments (p = 0.838), while significantly impaired (p < 0.001) in hypertrophic segments. Native T1 value of severe hypertrophic segments in HCM was significantly higher than segments of mild and moderate hypertrophy (p < 0.05). CONCLUSION: In HCM patients, the non-hypertrophic myocardial segments already demonstrated significantly elevated T1 and T2 values, despite normal wall thickness and preserved contraction function. The finding suggests that tissue remodeling may precede morphological and functional remodeling in HCM. MRI native T1 and T2 mapping can provide additional value for HCM diagnosis at an early stage. ADVANCES IN KNOWLEDGE: Myocardial tissue remodeling, as detected by MRI native T1 and T2 mapping, occurs earlier than morphological and functional changes in HCM patients.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico por imagem , Coração/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Miocárdio/patologia , Adulto , Cardiomiopatia Hipertrófica/patologia , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
15.
J Vet Cardiol ; 25: 41-51, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31568985

RESUMO

OBJECTIVES: Growth differentiation factor (GDF) 11 has been shown to reduce cardiac hypertrophy in mice. Low levels of GDF-11 are associated with cardiac hypertrophy in humans. The authors hypothesized that plasma GDF-11 level is decreased in cats with hypertrophic cardiomyopathy (HCM). Given the close homology between GDF-11 and myostatin/GDF-8, GDF-8 levels were also assessed. ANIMALS: Thirty-seven client-owned cats were enrolled, including cats with normal cardiac structure (n = 16), cats with HCM or hypertrophic obstructive cardiomyopathy (HOCM; n = 14), and cats with HCM and congestive heart failure (CHF; n = 7). METHODS: Plasma samples were analyzed for GDF-8 and GDF-11 using liquid chromatography tandem-mass spectrometry. Levels of GDF-8 and GDF-11 were compared between cats with normal cardiac structure, HCM or HOCM, and CHF. RESULTS: No differences in GDF-11 concentrations were found between cats with normal cardiac structure and cats with HCM/HOCM, with or without history of CHF. Decreased GDF-8 concentrations were detected in cats with CHF compared to cats with HCM/HOCM without history of CHF (p=0.031) and cats with normal cardiac structure (p=0.027). Growth differentiation factor 8 was higher in cats with HOCM compared to those with CHF (p=0.002). No statistical difference was noted in GDF-8 level as a function of age, weight, or body condition score. CONCLUSIONS: Plasma GDF-11 was not different between cats with HCM/HOCM and cats with normal cardiac structure regardless of age. Plasma GDF-8 was decreased in cats with CHF compared to cats with normal cardiac structure and cats with asymptomatic HCM/HOCM, suggesting a possible role in CHF development.


Assuntos
Cardiomiopatia Hipertrófica/veterinária , Doenças do Gato/sangue , Fatores de Diferenciação de Crescimento/sangue , Insuficiência Cardíaca/veterinária , Miostatina/sangue , Animais , Cardiomiopatia Hipertrófica/sangue , Cardiomiopatia Hipertrófica/complicações , Gatos , Feminino , Insuficiência Cardíaca/sangue , Insuficiência Cardíaca/etiologia , Masculino
16.
ABC., imagem cardiovasc ; 32(4): 303-308, out.-dez. 2019. tab, ilus, graf
Artigo em Português | LILACS | ID: biblio-1023931

RESUMO

A cardiomiopatia hipertrófica é uma doença de origem genética, que afeta milhares de pessoas em todo o mundo.Objetivos: Avaliar a presença de regurgitação mitral em pacientes com cardiomiopatia hipertrófica, bem como sua relação com variáveis ecodopplercardiográficas do ventrículo esquerdo. A disfunção de valva mitral encontradas nesses pacientes mostra-se um dado de extrema relevância, visto que é capaz de predizer a sobrevida e a taxa de mortalidade dos enfermos acometidos pela cardiomiopatia hipertrófica.Métodos: Foram avaliados todos os ecocardiogramas realizados no período de 2006 a 2016 no serviço de ecocardiografia do Hospital de Base de São José do Rio Preto, sendo o total de 112.930 exames. Foram selecionados aqueles com diagnóstico de cardiomiopatia hipertrófica ou espessura parietal > 15 mm, e incluídos na análise 132 pacientes.Resultados: Regurgitação valvar mitral de grau moderado e importante esteve presente em 25% e 5,3% dos pacientes, respectivamente, sendo que a regurgitação mitral esteve independentemente correlacionada com a forma obstrutiva de cardiomiopatia hipertrófica.Conclusão: A regurgitação mitral é achado frequente em pacientes com cardiomiopatia hipertrófica, no entanto, a insuficiência mitral importante é extremamente incomum e está correlacionada com a forma obstrutiva da doença


Hypertrophic Cardiomyopathy (HCM) is a genetic disease that affects thousands of people around the world.Objectives:The present study aims to evaluate the presence of mitral regurgitation in patients with HCM, as well as its relationship with left ventricular Doppler echocardiographic variables. The mitral valve failure found in these patients is an extremely important finding, since it is able to predict the survival and mortality rate of the patients affected by HCM.Materials and Methods: All echocardiograms performed from 2006 to 2016 in the echocardiographic service of Hospital de Base de São José do Rio Preto were evaluated. A total of 112,930 tests were gathered, of which those with HCM diagnosis or wall thickness >15 mm were selected and 132 patients were included in the analysis.Results: Moderate and major mitral valve regurgitation is present in 25% and 5.3% of the patients, respectively, and MRI is independently correlated with the obstructive form of HCM.Conclusion: Mitral regurgitation is a frequent finding in patients with CMP, however, significant MI is extremely uncommon and is correlated with the obstructive form of the disease


Assuntos
Humanos , Masculino , Feminino , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/genética , Ecocardiografia/métodos , Insuficiência da Valva Mitral , Volume Sistólico , Ecocardiografia Doppler/métodos , Análise Estatística , Estudos Retrospectivos , Ventrículos do Coração , Hipertensão , Valva Mitral
17.
BMC Med Genet ; 20(1): 156, 2019 09 11.
Artigo em Inglês | MEDLINE | ID: mdl-31510962

RESUMO

BACKGROUND: Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular characteristics of infantile-onset Pompe disease (IOPD) in Thailand. METHODS: Twelve patients with infantile-onset Pompe disease (IOPD) including 10 Thai and two other Asian ethnicities were enrolled. To examine the molecular characteristics of Pompe patients, GAA gene was analyzed by PCR amplification and direct Sanger-sequencing of 20 exons coding region. The novel mutations were transiently transfected in COS-7 cells for functional verification. The severity of the mutation was rated by study of the GAA enzyme activity detected in transfected cells and culture media, as well as the quantity and quality of the proper sized GAA protein demonstrated by western blot analysis. The GAA three dimensional structures were visualized by PyMol software tool. RESULTS: All patients had hypertrophic cardiomyopathy, generalized muscle weakness, and undetectable or < 1% of GAA normal activity. Three patients received enzyme replacement therapy with variable outcome depending on the age of the start of enzyme replacement therapy (ERT). Seventeen pathogenic mutations including four novel variants: c.876C > G (p.Tyr292X), c.1226insG (p.Asp409GlyfsX95), c.1538G > A (p.Asp513Gly), c.1895 T > G (p.Leu632Arg), and a previously reported rare allele of unknown significance: c.781G > A (p.Ala261Thr) were identified. The rating system ranked p.Tyr292X, p. Asp513Gly and p. Leu632Arg as class "B" and p. Ala261Thr as class "D" or "E". These novel mutations were located in the N-terminal beta-sheet domain and the catalytic domain. CONCLUSIONS: The present study provides useful information on the mutations of GAA gene in the underrepresented population of Asia which are more diverse than previously described and showing the hotspots in exons 14 and 5, accounting for 62% of mutant alleles. Almost all mutations identified are in class A/B. These data can benefit rapid molecular diagnosis of IOPD and severity rating of the mutations can serve as a partial substitute for cross reactive immunological material (CRIM) study.


Assuntos
Predisposição Genética para Doença/genética , Doença de Depósito de Glicogênio Tipo II/genética , Mutação , alfa-Glucosidases/genética , Alelos , Animais , Grupo com Ancestrais do Continente Asiático/genética , Sequência de Bases , Células COS , Cardiomiopatia Hipertrófica/genética , Terapia de Reposição de Enzimas , Feminino , Doença de Depósito de Glicogênio Tipo II/diagnóstico , Humanos , Lactente , Masculino , Modelos Moleculares , Patologia Molecular , Análise de Sequência de Proteína , Tailândia , alfa-Glucosidases/química
18.
Zhonghua Er Ke Za Zhi ; 57(9): 700-704, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530356

RESUMO

Objective: To analyze and summarize the diagnosis and treatment experience of common inherited cardiac arrhythmia syndrome in pediatric patients, and explore the most appropriate therapy. Methods: A retrospective review identified 30 pediatric cases (19 males, 11 females) diagnosed with long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), arrhythmogenc right ventricular cardiomyopathy (ARVC) from January 2008 to December 2018 in the Pediatric Cardiology Department, Guangdong Provincial People's Hospital. Data obtained included the diagnosis, treatment and follow-up outcome. Results: The most common inherited cardiac arrhythmia syndromes were LQTS (n=14) including 1 case with epilepsy, CPVT (n=5), HCM (n=7), ARVC (n=1), and BrS (n=3). Twenty-seven cases were admitted to hospital due to syncope, whereas the remaining 3 cases of BrS had not presented with syncope before admission. The average onset age of inherited arrhythmia was (10.0±3.3) years. Genetic testing was performed on 20 patients. The median follow-up time was 40 months. Among 15 patients who underwent implantable cardioverter defibrillator (ICD) and survived, 2 patients had frequent ICD discharge. One patient underwent radiofrequency ablation, and the other one received left cardiac sympathetic denervation and an increased ICD defibrillation threshold, and the number of ICD discharge was significantly reduced. Among 10 patients who received drug therapy, 4 patients including two patients who discontinued treatment without advices died. Two patients whose parents refused treatment died, 1 case diagnosed with unexplained sudden cerebral death, and the remaining 2 cases without indication for drug therapy survived without any treatment. Conclusions: Mortality rate is high in pediatric patients with inherited cardiac arrhythmia and syncope. The therapeutic effect of drugs are not satisfactory, ICD implantation is the most effective treatment to prevent sudden cardiac death currently, but the postoperative frequent discharge should be brought to the forefront and handled in time.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Síndrome de Brugada/genética , Cardiomiopatia Hipertrófica/genética , Síndrome do QT Longo/genética , Taquicardia Ventricular/genética , Arritmias Cardíacas , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/mortalidade , Displasia Arritmogênica Ventricular Direita/terapia , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/mortalidade , Síndrome de Brugada/terapia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/mortalidade , Cardiomiopatia Hipertrófica/terapia , Criança , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Feminino , Seguimentos , Testes Genéticos , Humanos , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/terapia , Masculino , Estudos Retrospectivos , Síncope , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/mortalidade , Taquicardia Ventricular/terapia , Resultado do Tratamento
19.
Rev Port Cardiol ; 38(7): 481-483, 2019 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31526558
20.
Rev Port Cardiol ; 38(7): 473-480, 2019 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31495717

RESUMO

INTRODUCTION: In obstructive hypertrophic cardiomyopathy (HCM), alcohol septal ablation (ASA) can lead to gradient reduction and symptom improvement. We aimed to assess the efficacy and safety of ASA in a long-term outcome study. METHODS: We analyzed patients who underwent ASA over a seven-year period in a tertiary center. The primary echocardiographic endpoint was >50% reduction in left ventricular outflow tract (LVOT) gradient within a year of the procedure. The primary clinical endpoints were improvement in functional capacity and a combined endpoint of cardiac death and rehospitalization for cardiac cause. The follow-up period was 4.17±2.13 years. RESULTS: A total of 80 patients, mean age 63.9±12.3 years, 30.0% male, were analyzed. Baseline LVOT gradient was 96.3±34.6 mmHg and interventricular septal thickness was 21.6±3.1 mm. Minor complications were observed in 6.3% and major complications in 2.5%, and 8.8% received a permanent pacemaker. The primary echocardiographic endpoint was achieved by 85.7%. At three-month follow-up, LVOT gradient was 25.8±26.0 mmHg in the successful procedure group, compared to 69.2±35.6 mmHg in the other patients (p=0.001). At six months, LVOT gradient was 27.1±27.4 vs. 58.2±16.6 mmHg (p=0.024). Among 74 patients in NYHA class III/IV before the procedure, 57 (77%) improved to NHYA class I/II. The combined primary clinical endpoint (cardiac death and rehospitalization for cardiac cause) was observed in 27.5% (n=22). In the unsuccessful group, the combined endpoint was observed in 54.5%, compared to only 22.7% in the successful group. Only two patients died of cardiac causes. CONCLUSION: ASA is a safe procedure with a high success rate. Patients who achieved significant reductions in LVOT gradient suffered less cardiac death and rehospitalization for cardiac cause.


Assuntos
Técnicas de Ablação/métodos , Procedimentos Cirúrgicos Cardíacos/métodos , Cardiomiopatia Hipertrófica/cirurgia , Etanol/farmacologia , Obstrução do Fluxo Ventricular Externo/cirurgia , Septo Interventricular/cirurgia , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Ecocardiografia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Obstrução do Fluxo Ventricular Externo/diagnóstico , Obstrução do Fluxo Ventricular Externo/etiologia , Septo Interventricular/diagnóstico por imagem
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