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1.
Int Heart J ; 62(1): 201-206, 2021 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-33455993

RESUMO

The definite diagnosis of cardiac sarcoidosis (CS) can be difficult because it mimics other cardiomyopathies and morphological abnormalities during its time course. Distinguishing CS isolated cardiac sarcoidosis from other cardiomyopathies is very important for the introduction of immunosuppressive therapy.In this study, we report a patient who had initially been diagnosed with hypertrophic obstructive cardiomyopathy (HOCM). The patient developed complete atrioventricular block (CAVB) and morphological abnormalities, which led to his primary diagnosis being re-conducted. Moreover, we made a definite diagnose of isolated CS (ICS) based on the guideline for the diagnosis and treatment using 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG-PET/CT)1) and performed tailor-made treatment including immunosuppressive therapy.


Assuntos
Bloqueio Atrioventricular/etiologia , Cardiomiopatia Hipertrófica/diagnóstico , Sarcoidose/complicações , Sarcoidose/diagnóstico , Assistência ao Convalescente , Idoso , Fibrilação Atrial/complicações , Fibrilação Atrial/terapia , Bloqueio Atrioventricular/diagnóstico , Terapia de Ressincronização Cardíaca/métodos , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/fisiopatologia , Ablação por Cateter/métodos , Ecocardiografia/métodos , Fluordesoxiglucose F18/farmacocinética , Humanos , Imunossupressores/uso terapêutico , Masculino , Miocárdio/patologia , Tomografia por Emissão de Pósitrons/métodos , Prednisolona/uso terapêutico , Sarcoidose/diagnóstico por imagem , Sarcoidose/tratamento farmacológico , Resultado do Tratamento
3.
Ter Arkh ; 92(9): 63-69, 2020 Oct 14.
Artigo em Russo | MEDLINE | ID: mdl-33346433

RESUMO

Hypertrophic cardiomyopathy is the most common inherited heart disorder with high clinical heterogeneity. Every fifth patient is older than 60 years at first diagnosis. This review discusses the possible causes for the late onset of hypertrophic cardiomyopathy, the diagnostic and treatment approaches in the elderly.


Assuntos
Cardiomiopatia Hipertrófica , Idoso , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/epidemiologia , Cardiomiopatia Hipertrófica/etiologia , Coração , Humanos
4.
Rev Med Suisse ; 16(709): 1886-1890, 2020 Oct 07.
Artigo em Francês | MEDLINE | ID: mdl-33026733

RESUMO

Fabry disease, an X-linked disease, results from a deficiency of the lysosomal enzyme alpha-galactosidase A, which causes glycosphingolipids accumulation in the body. On the basis of the residual enzymatic activity level, a classical, severe multisystemic form and an attenuated cardiac variant form are distinguished. In all cases, patients can develop hypertrophic cardiomyopathy in adulthood, the severity of which is the leading cause of morbidity and mortality of the disease. The cardiomyopathy is usually isolated in the cardiac variant form, the most common form of the disease, and should be suspected in the presence of relatively specific ECG, echocardiographic and MRI characteristics.


Assuntos
Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Hipertrofia Ventricular Esquerda/complicações , Hipertrofia Ventricular Esquerda/diagnóstico , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Humanos , alfa-Galactosidase
5.
BMC Med Genet ; 21(1): 188, 2020 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-32993534

RESUMO

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical stress sensing both in cardiac and skeletal muscle, and its mutations are responsible for a large spectrum of neuromuscular disorders (mostly myopathies) and cardiac disease, represented by HCM, either isolated, or in conjunction with neurologic and skeletal muscle impairment. We thereby report a novel mutation variant in FHL1 structure, associated with HCM and type 6 Emery-Dreifuss muscular dystrophy (EDMD). CASE PRESENTATION: We describe the case of a 40 year old male patient, who was referred to our department for evaluation in the setting of NYHA II heart failure symptoms and was found to have HCM. The elevated muscular enzymes raised the suspicion of a neuromuscular disease. Rigid low spine and wasting of deltoidus, supraspinatus, infraspinatus and calf muscles were described by the neurological examination. Electromyography and muscle biopsy found evidence of chronic myopathy. Diagnosis work-up was completed by next-generation sequencing genetic testing which found a likely pathogenic mutation in the FHL1 gene (c.157-1G > A, hemizygous) involved in the development of X-linked EDMD type 6. CONCLUSION: This case report highlights the importance of multimodality diagnostic approach in a patient with a neuromuscular disorder and associated hypertrophic cardiomyopathy by identifying a novel mutation variant in FHL1 gene. Raising awareness of non-sarcomeric gene mutations which can lead to HCM is fundamental, because of diagnostic and clinical risk stratification challenges.


Assuntos
Cardiomiopatia Hipertrófica/genética , Peptídeos e Proteínas de Sinalização Intracelular/genética , Proteínas com Domínio LIM/genética , Proteínas Musculares/genética , Doenças Musculares/genética , Mutação , Adulto , Cardiomiopatia Hipertrófica/diagnóstico , Saúde da Família , Feminino , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Linhagem
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(10): 1113-1116, 2020 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-32924113

RESUMO

OBJECTIVE: To explore the predictive value of overall longitudinal strain for the development of cardiomyopathy without hypertrophic changes. METHODS: Sixty five patients with suspected hypertrophic cardiomyopathy (HCM) but without hypertrophic changes were selected. Genetic variant, overall longitudinal strain, left ventricular ejection fraction, end diastolic volume, end systolic volume, interventricular septal thickness, left ventricular diameter and end diastolic diameter were detected. The risk factors of HCM were analyzed. RESULTS: Forty four variants of 16 genes were identified, among which MYBPC3 13659G>A was the commonest (73.20%) and MYH7 13252C>T was the second (31.25%). MYBPC3 GG genotype, overall longitudinal strain and apical longitudinal strain were correlated with HCM (P<0.05). CONCLUSION: The increase of longitudinal strain is of great value in predicting the occurrence of HCM.


Assuntos
Cardiomiopatia Hipertrófica , Função Ventricular Esquerda , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/genética , Diástole , Ventrículos do Coração , Humanos , Valor Preditivo dos Testes , Volume Sistólico , Sístole
7.
Arch Cardiovasc Dis ; 113(8-9): 542-550, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32771348

RESUMO

BACKGROUND: Screening for Fabry disease is sub-optimal in non-specialised centres. AIM: To assess the diagnostic value of electrocardiographic scores of left ventricular hypertrophy and a combined electrocardiographic and echocardiographic model in Fabry disease. METHODS: We retrospectively reviewed the electrocardiograms and echocardiograms of 61 patients (mean age 55.6±11.5 years; 57% men) with Fabry disease and left ventricular hypertrophy, and compared them with those from 59 patients (mean age 44.8±18.3 years; 66% men) with sarcomeric hypertrophic cardiomyopathy. Six electrocardiography criteria for left ventricular hypertrophy were specifically analysed: Sokolow-Lyon voltage index; Cornell voltage index; Gubner index; Romhilt-Estes score; Sokolow-Lyon product (voltage index×QRS duration); and Cornell product (voltage index×QRS duration). RESULTS: Right bundle branch block was more frequent in patients with Fabry disease (54% vs. 22%; P=0.001). QRS duration, Gubner score and Sokolow-Lyon product were significantly higher in patients with Fabry disease. Maximal wall thickness was higher in patients with sarcomeric hypertrophic cardiomyopathy (21.9±5.1 vs. 15.5±2.9mm; P<0.001). Indexed sinus of Valsalva diameter was larger in patients with Fabry disease. After multivariable analysis, right bundle branch block, Sokolow-Lyon product, maximal wall thickness and aortic diameter were independently associated with Fabry disease. A model including these four variables yielded an area under the receiver operating characteristic curve of 0.918 (95% confidence interval 0.868-0.968) for Fabry disease. CONCLUSION: Our model combining easy-to-assess electrocardiographic and echocardiographic variables may be helpful in improving screening and reducing diagnosis delay in Fabry disease.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Ecocardiografia , Eletrocardiografia , Doença de Fabry/diagnóstico , Adulto , Idoso , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/fisiopatologia , Diagnóstico Diferencial , Doença de Fabry/diagnóstico por imagem , Doença de Fabry/fisiopatologia , Feminino , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Volume Sistólico , Função Ventricular Esquerda , Função Ventricular Direita , Remodelação Ventricular
9.
Am J Cardiol ; 127: 135-138, 2020 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-32430163

RESUMO

A unique clinical circumstance involving middle-aged male identical twins with obstructive hypertrophic cardiomyopathy (HC) is reported. The concordance of morphologic (i.e., phenotype) findings and clinical course between the 2 patients is remarkable, including timing of the onset and progression of heart failure due to left ventricular outflow tract obstruction, frequency of paroxysmal atrial fibrillation and beneficial response to surgical myectomy and Cox-Maze IV procedure (performed 14 days apart). Histopathology of resected ventricular septal muscle showed identical hallmarks of HC including myocyte disorganization, small vessel disease, and myocardial fibrosis. A missense variant of the CRYAB gene was identified as potentially relevant to the pathogenesis of HC in the twins. Taken together, these observations support a powerful genetic determinant for the morphologic and clinical expression of HC, with little or no environmental influence.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Doenças em Gêmeos , Ecocardiografia/métodos , Função Ventricular Esquerda/fisiologia , Septo Interventricular/diagnóstico por imagem , Cardiomiopatia Hipertrófica/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Gêmeos Monozigóticos
10.
Am J Cardiol ; 127: 139-141, 2020 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-32375998

RESUMO

Hypertrophic cardiomyopathy (HC) is associated with a well-recognized risk for unexpected sudden death (SD). Most such reported patients have been referred to dedicated centers and/or expert cardiologists for risk stratification, with the number of SDs decreasing sharply due to penetration of the implantable cardioverter-defibrillator (ICDs) into HC practice. However, the clinical circumstances, and morphologic features of HC patients who incur SD without the opportunity to be considered for preventive intervention with ICDs are largely undefined. Using the long-standing unique Jesse Edwards Registry (St. Paul, Minnesota), we studied 86 selected heart specimens from young HC patients who died suddenly and unexpectedly without prior clinical evaluation, ages 31 ± 16 years. The patients were predominantly male (87%) with only modest phenotypic expression and maximum LV wall thickening of only 18 ± 4 mm. SD events occurred predominantly with sedentary/mild activities (66%) often in bed or asleep (32%), but also during physical activity (22%) including with organized competitive sports. This largely unappreciated sub-population of patients with HC (and SD) is characterized by mild-to-moderate degree of LV hypertrophy, representing a clinical challenge which is particularly relevant in the current ICD era for HC, with the potential for SD prevention.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Morte Súbita Cardíaca/etiologia , Ventrículos do Coração/patologia , Autopsia , Cardiomiopatia Hipertrófica/complicações , Morte Súbita Cardíaca/patologia , Humanos
11.
Open Heart ; 7(1): e001220, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32341788

RESUMO

Objective: The myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among carriers of this single, prevalent founder mutation. Methods: We studied 60 probands with HCM caused by MYBPC3 c.927-2A>G and 225 first-degree relatives. All participants underwent comprehensive clinical evaluation and relatives were genotyped. Results: Genetic and clinical evaluation of relatives identified 49 genotype-positive (G+) relatives with left ventricular hypertrophy (G+/LVH+), 59 G+without LVH (G+/LVH-) and 117 genotype-negative relatives (unaffected). Compared with HCM probands, G+/LVH+ relatives were older at HCM diagnosis, had less LVH, a less prevalent diastolic dysfunction, fewer ECG abnormalities, lower serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin I levels, and fewer symptoms. The penetrance of HCM was influenced by age and sex; specifically, LVH was present in 39% of G+males but only 9% of G+females under age 40 years (p=0.015), versus 86% and 83%, respectively, after age 60 (p=0.89). G+/LVH- subjects had normal wall thicknesses, diastolic function and NT-proBNP levels, but subtle changes in LV geometry and more ECG abnormalities than their unaffected relatives. Conclusions: Phenotypic expression of the Icelandic MYBPC3 founder mutation varies by age, sex and proband status. Men are more likely to have LVH at a younger age, and disease manifestations were more prominent in probands than in relatives identified via family screening. G+/LVH- individuals had subtle clinical differences from unaffected relatives well into adulthood, indicating subclinical phenotypic expression of the pathogenic mutation.


Assuntos
Cardiomiopatia Hipertrófica/genética , Proteínas de Transporte/genética , Efeito Fundador , Heterozigoto , Mutação , Sarcômeros/genética , Função Ventricular Esquerda/genética , Remodelação Ventricular/genética , Adulto , Idade de Início , Idoso , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/fisiopatologia , Estudos Transversais , Feminino , Predisposição Genética para Doença , Hemodinâmica/genética , Hereditariedade , Humanos , Islândia , Masculino , Pessoa de Meia-Idade , Linhagem , Penetrância , Fenótipo , Fatores de Risco
13.
BMC Cardiovasc Disord ; 20(1): 156, 2020 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-32248794

RESUMO

BACKGROUND: Danon disease (OMIM 300257) is an X-linked lysosomal storage disorder, characterized by hypertrophic cardiomyopathy (HCM), skeletal myopathy, variable intellectual disability, and other minor clinical features. This condition accounts for ~ 4% of HCM patients, with a more severe and early onset phenotype in males, causing sudden cardiac death (SCD) in the first three decades of life. Genetic alterations in the LAMP2 gene are the main cause of this inherited fatal condition. Up to date, more than 100 different pathogenic variants have been reported in the literature. However, the majority of cases are misdiagnosed as HCM or have a delay in the diagnosis. CASE PRESENTATION: Here, we describe a young boy with an early diagnosis of HCM. After 2 episodes of ventricular fibrillation within 2 years, genetic testing identified a novel LAMP2 pathogenic variant. Subsequently, further clinical evaluations showing muscle weakness and mild intellectual disability confirmed the diagnosis of Danon disease. CONCLUSIONS: This report highlights the role of genetic testing in the rapid diagnosis of Danon disease, underscoring the need to routinely consider the inclusion of LAMP2 gene in the genetic screening for HCM, since an early diagnosis of Danon disease in patients with a phenotype mimicking HCM is essential to plan appropriate treatment, ie cardiac transplantation.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Análise Mutacional de DNA , Testes Genéticos , Doença de Depósito de Glicogênio Tipo IIb/diagnóstico , Proteína 2 de Membrana Associada ao Lisossomo/genética , Mutação , Adolescente , Erros de Diagnóstico , Diagnóstico Precoce , Predisposição Genética para Doença , Doença de Depósito de Glicogênio Tipo IIb/diagnóstico por imagem , Doença de Depósito de Glicogênio Tipo IIb/genética , Humanos , Masculino , Fenótipo , Valor Preditivo dos Testes
14.
Cardiovasc J Afr ; 31(4): 180-184, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32159583

RESUMO

BACKGROUND: Isolated left ventricular non-compaction (ILVNC), dilated cardiomyopathy (DCMO) and hypertrophic cardiomyopathy (HCM) are diseases that may be present in family members of patients with ILVNC. The primary aim of this study was to identify the prevalence and spectrum of cardiomyopathy in first-degree relatives of patients with ILVNC. A secondary aim was to compare a strategy of clinical screening, utilising only a clinical assessment and electrocardiogram (ECG), compared to one that included echocardiography for screening of family members of patients with ILVNC. METHODS: Eighty-three close relatives of 38 unrelated patients from the ILVNC clinic at the Chris Hani Baragwanath Hospital underwent a detailed clinical history, physical examination, ECG and echocardiogram. RESULTS: Echocardiographic screening revealed unexplained left ventricular (LV) dysfunction in 10 (12.05%) relatives. Nine out of the 10 individuals satisfied the criteria for diagnosis of DCMO. No cases of HCM or LVNC were identified. A strategy of clinical assessment and ECG had a sensitivity of 76% and a specificity of 42% versus the gold standard of echocardiographic screening. CONCLUSIONS: Echocardiographic screening detected DCMO in 10.8% of subjects. A strategy of clinical screening that included electrocardiography was sub-optimal as a screening strategy compared to echocardiographic screening.


Assuntos
Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Hipertrófica/diagnóstico , Ecocardiografia , Eletrocardiografia , Frequência Cardíaca , Miocárdio Ventricular não Compactado Isolado/diagnóstico , Função Ventricular Esquerda , Adolescente , Adulto , Grupo com Ancestrais do Continente Africano/genética , Cardiomiopatia Dilatada/etnologia , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/fisiopatologia , Cardiomiopatia Hipertrófica/etnologia , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/fisiopatologia , Feminino , Predisposição Genética para Doença , Frequência Cardíaca/genética , Hereditariedade , Humanos , Miocárdio Ventricular não Compactado Isolado/etnologia , Miocárdio Ventricular não Compactado Isolado/genética , Miocárdio Ventricular não Compactado Isolado/fisiopatologia , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Valor Preditivo dos Testes , Prevalência , Estudos Retrospectivos , África do Sul/epidemiologia , Função Ventricular Esquerda/genética , Adulto Jovem
15.
Herz ; 45(3): 233-242, 2020 May.
Artigo em Alemão | MEDLINE | ID: mdl-32185419

RESUMO

Hypertrophic cardiomyopathy is the most common genetically determined cardiac disease with a prevalence of 0.2-0.6%. The most important pathophysiological phenomenon is dynamic obstruction predominantly of the left ventricular outflow tract in 70% of the patients. Clinical symptoms (e.g. dyspnea, angina pectoris and syncope) are extremely variable depending on changes in preload and afterload and an increased risk of sudden cardiac death particularly in younger patients. The diagnostic measures should be carried out with respect to a prognostic and symptomatic treatment with implantation of an implantable cardioverter defibrillator (ICD) in cases of increased risk of sudden cardiac death. When medication treatment fails, first-line treatment consists of septal ablation and surgical myectomy as a supplementary measure, depending on the underlying morphology and experience of the surgeon.


Assuntos
Cardiomiopatia Hipertrófica , Ablação por Cateter , Desfibriladores Implantáveis , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/terapia , Morte Súbita Cardíaca , Humanos , Síncope , Resultado do Tratamento
16.
Am J Emerg Med ; 38(7): 1540.e1-1540.e4, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32169389

RESUMO

An asymptomatic 83-year-old man with a history of hypertension, prior stroke with no residual deficits, and bilateral carotid artery stenosis, presented for evaluation prior to cataract surgery. His transthoracic echocardiogram was typical for apical hypertrophic cardiomyopathy (AHCM), and his electrocardiograms (ECG) showed large precordial R-waves and inverted T-waves, previously associated with AHCM, while his ECG 7 years earlier was normal. Mechanistic explanations for the developed ECG abnormalities, and their importance for the detection and monitoring of patients with AHCM are provided.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Ecocardiografia , Eletrocardiografia , Idoso de 80 Anos ou mais , Doenças Assintomáticas , Humanos , Masculino
20.
Am J Cardiol ; 125(9): 1398-1403, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32151436

RESUMO

Differences in presentation and natural history of hypertrophic cardiomyopathy (HC) between community cardiology practice and referral centers has been a source of considerable uncertainty. We report here a cross-sectional analysis of 253 consecutive HC patients from a "real-world" clinical cardiology setting. When compared with a highly selected referral center cohort, patients in clinical practice proved to be similar with regard to disease expression such as left ventricular (LV) wall thickness, outflow obstruction, and natural history, including stable and largely benign clinical course with no or mild symptoms (61% in community practice vs. 55% in referred patients, p = 0.23), occurrence of atrial fibrillation (22% vs. 24%, p = 0.75) and nonfatal sudden death (SD) events (3% vs. 4%, p = 0.8). In contrast, progressive heart failure symptoms were most common in the referral cohort (36% vs. 26%, p = 0.04). In clinical practice, SD was prevented by prophylactic implatable cardioverter defibrillators (ICD) in 5 of 44 patients (11%), although risk was overestimated in 6 patients who were implanted with ICDs in the absence of risk markers (14%). In 16 of 61 (26%) severely symptomatic drug-refractory patients with LV outflow obstruction, recommendation for surgical myectomy (or alcohol septal ablation) was delayed. In conclusion, clinical characteristics and course of HC patients in community practice were generally similar to those in HC referral centers. Community cardiologists managed HC patients predominantly in concert with guideline-based strategies, although risk for SD could be overestimated, and the significance of outflow obstruction with timely reversal of refractory heart failure by intervention was underappreciated.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Adulto , Idoso , Cardiomiopatia Hipertrófica/complicações , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
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