Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 2.795
Filtrar
1.
BMJ Case Rep ; 14(2)2021 Feb 04.
Artigo em Inglês | MEDLINE | ID: mdl-33542011

RESUMO

A 44-year-old woman with known trichorhinophalangeal syndrome presented with an unheralded out of hospital cardiac arrest. Transthoracic echocardiography showed severe left ventricular systolic dysfunction with an ejection fraction <25% and cardiac MRI confirmed a diagnosis of congenital non-ischaemic dilated cardiomyopathy. The case highlights a very rare syndrome, it is previously unknown association with dilated cardiomyopathy and the possible benefit of cardiac screening for patients with known trichorhinophalangeal syndrome.


Assuntos
Cardiomiopatia Dilatada/diagnóstico , Dedos/anormalidades , Doenças do Cabelo/complicações , Síndrome de Langer-Giedion/complicações , Nariz/anormalidades , Parada Cardíaca Extra-Hospitalar , Doenças Raras , Adulto , Ecocardiografia , Feminino , Doenças do Cabelo/genética , Humanos , Síndrome de Langer-Giedion/genética , Programas de Rastreamento , Fatores de Risco
2.
Medicine (Baltimore) ; 100(6): e24309, 2021 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-33578526

RESUMO

INTRODUCTION: Morbid obesity (body mass index > 40 kg/m2) is a risk factor for the development of left ventricular systolic dysfunction (LVSD) and can complicate the management of LVSD. Bariatric surgery is increasingly recognized as a safe and effective way to achieve marked weight loss, but studies on improving LVSD populations are limited. We retrospectively analyzed the first case of the Asia-Pacific region with morbid obesity and left ventricular ejection fraction (LVEF) < 50% who underwent bariatric surgery at our medical center. PATIENT CONCERNS: The patient was admitted to the hospital due to progressive weight gain for more than 10 years. The patient used to be in good health. One year before admission, the patient was hospitalized in another hospital due to shortness of breath. After the relevant examination, the patient was diagnosed with dilated cardiomyopathy. DIAGNOSIS: The body mass index of the patient was 45.9 kg/m2, and the patient was diagnosed with morbid obesity. He was diagnosed with dilated cardiomyopathy and cardiac function class IV in another hospital. After completing a preoperative examination, the patient was diagnosed with hyperuricemia, hyperlipidemia, fatty liver disease and severe sleep apnea. INTERVENTIONS: The patient successfully underwent laparoscopic sleeve gastrectomy plus jejunal bypass. OUTCOMES: Six months after the surgery, patient weight lost was 33.6 kg, and the LVEF increased from 31% to 55%. The cardiac function of the patient recovered from class IV to class I, and the patient's hyperuricemia, hyperlipidemia and sleep apnea were significantly improved. CONCLUSION: Bariatric surgery may be a safe and effective intervention for morbidly obese patients with LVSD. Bariatric surgery was associated with an improvement in LVEF. However, the specific mechanism still needs further study.


Assuntos
Cirurgia Bariátrica/efeitos adversos , Cardiomiopatia Dilatada/fisiopatologia , Obesidade Mórbida/cirurgia , Disfunção Ventricular Esquerda/fisiopatologia , Adulto , Ásia/epidemiologia , Cirurgia Bariátrica/métodos , Índice de Massa Corporal , Cardiomiopatia Dilatada/diagnóstico , Humanos , Masculino , Obesidade Mórbida/complicações , Obesidade Mórbida/diagnóstico , Estudos Retrospectivos , Volume Sistólico/fisiologia , Resultado do Tratamento , Disfunção Ventricular Esquerda/etiologia , Função Ventricular Esquerda/fisiologia , Perda de Peso/fisiologia
3.
Annu Int Conf IEEE Eng Med Biol Soc ; 2020: 2764-2767, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-33018579

RESUMO

Heart diseases are the leading cause of death in developed countries. Ascertaining the etiology of cardiomyopathies is still a challenge. The objective of this study was to classify cardiomyopathy patients through cardio, respiratory and vascular variability analysis, considering the vascular activity as the input and output of the baroreflex response. Forty-one cardiomyopathy patients (CMP) classified as ischemic (ICM, 24 patients) and dilated (DCM, 17 patients) were analyzed. Thirty-nine elderly control subjects (CON) were used as reference. From the electrocardiographic, respiratory flow, and blood pressure signals, following temporal series were extracted: beat-to-beat intervals (BBI), total respiratory cycle time series (TT), and end- systolic (SBP) and diastolic (DBP) blood pressure amplitudes, respectively. Three-dimensional representation of the cardiorespiratory and vascular activities was characterized geometrically, by fitting a polygon that contains 95% of data, and by statistical descriptive indices. The best classifiers were used to build support vector machine models. The optimal model to classify ICM versus DCM patients achieved 92.7% accuracy, 94.1% sensitivity, and 91.7% specificity. When comparing CMP patients and CON subjects, the best model achieved 86.2% accuracy, 82.9% sensitivity, and 89.7% specificity. These results suggest a limited ability of cardiac and respiratory systems response to regulate the vascular variability in these patients.


Assuntos
Cardiomiopatias , Cardiomiopatia Dilatada , Insuficiência Cardíaca , Idoso , Barorreflexo , Cardiomiopatia Dilatada/diagnóstico , Eletrocardiografia , Humanos
5.
Vet J ; 259-260: 105475, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32553239

RESUMO

The importance of atrial premature complexes (APCs) as a possible marker of occult dilated cardiomyopathy (DCM) in Doberman Pinschers (DP) is unknown. The aim of this study was to identify APC in healthy DP and to investigate their role as early markers of occult DCM. Holter-ECG results from 561 examinations of 153 DP at different time points were retrospectively evaluated, with special emphasis on APCs. Holter results from 110 healthy control DPs were compared to the last normal Holter and echocardiographic examinations in 43 DP that subsequently developed DCM within 15 months (DCM group), and to the first examination in the DCM group that contained ventricular premature complexes (VPC). There were no significant differences in the number of APCs or the coupling interval between the control group and the last normal examination in the DCM group (P > 0.05). The number of APCs increased slightly at the first abnormal examination in the DCM group. Healthy male DP had more APCs than females (P = 0.009) and older dogs had APCs more frequently than younger dogs (P < 0.001). About 85% of healthy DP with at least one APC/24 h had <20 APCs/24 h. Extracardiac diseases, especially gastrointestinal diseases influenced the occurrence of APCs (P = 0.037 and P = 0.006, respectively). APCs were present without obvious cardiac disease and were not a marker for the development of DCM, as they were not identified until after VPCs were present.


Assuntos
Complexos Atriais Prematuros/veterinária , Cardiomiopatia Dilatada/veterinária , Doenças do Cão/diagnóstico , Animais , Complexos Atriais Prematuros/fisiopatologia , Cardiomiopatia Dilatada/diagnóstico , Estudos de Casos e Controles , Doenças do Cão/epidemiologia , Doenças do Cão/fisiopatologia , Cães , Ecocardiografia/veterinária , Eletrocardiografia Ambulatorial/veterinária , Feminino , Alemanha/epidemiologia , Masculino , Linhagem , Prevalência , Estudos Retrospectivos
6.
PLoS One ; 15(4): e0227393, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32236096

RESUMO

BACKGROUND: TBX5 is a transcription factor that has an important role in development of heart. TBX5 variants in the region encoding the T-box domain have been shown to cause cardiac defects, such as atrial septal defect or ventricular septal defect, while TBX5 variants have also been identified in a few cardiomyopathy patients and considered causative. We identified a TBX5 variant (c.791G>A, p.Arg264Lys), that is over-represented in cardiomyopathy patients. This variant is located outside of the T-box domain, and its pathogenicity has not been confirmed by functional analyses. OBJECTIVE: To investigate whether the TBX5 R264K is deleterious and could contribute to the pathogenesis of cardiomyopathy. METHODS AND RESULTS: We developed mice expressing Tbx5 R264K. Mice homozygous for this variant displayed compensated dilated cardiomyopathy; mild decreased fractional shortening, dilatation of the left ventricle, left ventricular wall thinning and increased heart weight without major heart structural disorders. There was no difference in activation of the ANF promotor, a transcriptional target of Tbx5, compared to wild-type. However, analysis of RNA isolated from left ventricular samples showed significant increases in the expression of Acta1 in left ventricle with concomitant increases in the protein level of ACTA1. CONCLUSIONS: Mice homozygous for Tbx5 R264K showed compensated dilated cardiomyopathy. Thus, TBX5 R264K may have a significant pathogenic role in some cardiomyopathy patients independently of T-box domain pathway.


Assuntos
Cardiomiopatia Dilatada/genética , Ventrículos do Coração/patologia , Miocárdio Ventricular não Compactado Isolado/genética , Proteínas com Domínio T/genética , Actinas/metabolismo , Animais , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/patologia , Criança , Modelos Animais de Doenças , Ecocardiografia , Feminino , Técnicas de Introdução de Genes , Testes Genéticos , Células HEK293 , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/crescimento & desenvolvimento , Heterozigoto , Humanos , Lactente , Recém-Nascido , Miocárdio Ventricular não Compactado Isolado/diagnóstico , Masculino , Camundongos , Camundongos Transgênicos , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único
7.
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
8.
Intern Med ; 59(12): 1525-1530, 2020 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-32132339

RESUMO

A 49-year-old man was diagnosed with acute cardiac insufficiency based on evidence of congestive heart failure. The non-invasive measurement of the cardiac output using an AESCULON® mini showed low cardiac output (CO, 3.9 L/min). We administered an intravenous diuretic for cardiac edema and dobutamine drip for low cardiac output. Soon after starting dobutamine at 3.2 γ (microg/kg/min), the CO improved to 6.8 L/min. Combination therapy of diuretic and dobutamine resolved the heart failure. CO measurement by an AESCULON® mini was safe, cost-effective, and convenient. Data output correlates with the CO by Swan-Ganz catheterization. The non-invasive measurement of the CO permitted a smooth recovery without recurrence in this patient.


Assuntos
Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/tratamento farmacológico , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/tratamento farmacológico , Débito Cardíaco/efeitos dos fármacos , Cardiomiopatia Dilatada/diagnóstico , Cardiotônicos/uso terapêutico , Diuréticos/uso terapêutico , Dobutamina/uso terapêutico , Quimioterapia Combinada , Insuficiência Cardíaca/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade
9.
Arch Dis Child ; 105(9): 853-856, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32122880

RESUMO

OBJECTIVE: To determine the incidence, demography and prognosis of vitamin D deficiency dilated cardiomyopathy (DCM) in Scotland over the last decade. STUDY DESIGN: A retrospective review of cases of vitamin D deficiency DCM presenting to a national paediatric cardiac centre between 1 January 2008 and 1 January 2018. The departmental database and electronic and paper case notes were used to identify patients and extract data. RESULTS: Six patients were identified (three male), three of whom were Caucasian. Median age at presentation was 206 days (range 2-268.) All six patients had high serum parathyroid hormone levels (median 45 pmol/L, range 27-120 pmol/L), a sensitive marker of total body calcium deprivation secondary to vitamin D deficiency. All patients demonstrated clinical and echocardiographic improvement following high dose vitamin D treatment. No patients required cardiac transplant, and only one patient required extracorporeal life support as a bridge to recovery. After an initial improvement, one child died at 5 months as a result of respiratory infection. Three patients lived within some of the most deprived areas in Scotland. CONCLUSIONS: This case series demonstrates a previously unreported demographic in Scotland, as 50% of cases presented in Caucasian children. Although vitamin D deficiency DCM is relatively rare, it is wholly preventable. Our study confirms that vitamin D deficiency cardiomyopathy is reversible with prompt identification and supplementation. The current implementation of public health policy in the UK is failing to prevent children from developing the most severe manifestation of vitamin D deficiency.


Assuntos
Cardiomiopatia Dilatada/etiologia , Deficiência de Vitamina D/complicações , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/diagnóstico por imagem , Cardiomiopatia Dilatada/epidemiologia , Ecocardiografia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos Retrospectivos , Escócia/epidemiologia , Deficiência de Vitamina D/epidemiologia
10.
Transl Res ; 218: 1-15, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32032554

RESUMO

Etiology-based diagnosis of dilated cardiomyopathy (DCM) is challenging. We evaluated whether peripheral microRNAs (miRNAs) could be used to characterize the DCM etiology. We investigated the miRNA plasma profiles of 254 subjects that comprised 5 groups: Healthy subjects (n = 70), idiopathic DCM patients (n = 55), ischemic DCM patients (n = 60) and 2 groups of patients with pathogenic variants responsible for familial DCM in the LMNA (LMNAMUT, n = 37) and BAG3 (BAG3MUT, n = 32) genes. Diagnostic performance was assessed using receiver operating characteristic curves. In a screening study (n = 30), 179 miRNAs robustly detected in plasma samples were profiled in idiopathic DCM and carriers of pathogenic variants. After filtering, 26 miRNA candidates were selected for subsequent quantification in the whole study population. In the validation study, a 6-miRNA panel identified familial DCM with an AUC (95% confidence interval [CI]) of 87.8 (82.0-93.6). The 6-miRNA panel also distinguished between specific DCM etiologies with AUCs ranging from 85.9 to 89.9. Only 1 to 10 of the subjects in the first and second tertiles of the 6-miRNA panel were patients with familial DCM. Additionally, a 5-miRNA panel showed an AUC (95% CI) of 87.5 (80.4-94.6) for the identification of carriers with pathogenic variants who were phenotypically negative for DCM. The 5-miRNA panel discriminated between carriers and healthy controls with AUCs ranging from 83.2 to 90.8. Again, only 1 to 10 of the subjects in the lowest tertiles of the 5-miRNA panel were carriers of pathogenic variants. In conclusion, miRNA signatures could be used to rule out patients with pathogenic variants responsible for DCM.


Assuntos
Cardiomiopatia Dilatada/diagnóstico , MicroRNAs/sangue , Adulto , Idoso , Biomarcadores/sangue , Cardiomiopatia Dilatada/genética , Estudos de Casos e Controles , Heterozigoto , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes
12.
Sci Rep ; 10(1): 2226, 2020 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-32041989

RESUMO

Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure. A large proportion of genetic cause remains unexplained, especially in idiopathic DCM. We performed target next-generation sequencing of 102 genes which were known causes or candidate genes for cardiomyopathies and channelpathies in 118 prospectively recruited Han Chinese patients with idiopathic DCM. 41 of the 118 patients carried 40 pathogenic or likely pathogenic variants, providing a molecular diagnosis in 34.7% of patients. 32 of these variants were novel. TTN truncating variants were predominant, with a frequency of 31.0%, followed by variants of LMNA (14.3%), RBM20 (4.8%), and NEXN (4.8%). These 4 genes accounted for over half variants identified. No significant difference in clinical characteristics or rates of reaching the composite end point (cardiac transplantation and death from cardiac causes) between pathogenic or likely pathogenic variant carriers and noncarriers (hazard ratio 1.11, 95% CI: 0.41 to 3.00), or between patients with TTN truncating variants or without (hazard ratio 0.49, 95% CI: 0.36 to 6.10). In our prospective study, we first determined the overall genetic profiles and genotype-phenotype correlations in Han Chinese idiopathic DCM patients, which could provide insight for genetic diagnosis of DCM in this population.


Assuntos
Cardiomiopatia Dilatada/genética , Estudos de Associação Genética , Adulto , Idoso , Grupo com Ancestrais do Continente Asiático/genética , Biomarcadores , Cardiomiopatia Dilatada/diagnóstico , Conectina/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lamina Tipo A/genética , Masculino , Proteínas dos Microfilamentos/genética , Pessoa de Meia-Idade , Estudos Prospectivos , Proteínas de Ligação a RNA/genética
13.
J Vet Cardiol ; 27: 78-87, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32086162

RESUMO

INTRODUCTION: The primary objective of this study was to test whether seven-day Holter recording improves the sensitivity of detecting dilated cardiomyopathy (DCM) predictive criteria (DCMp) compared with 24-h Holter recording in asymptomatic Doberman Pinscher (DP) dogs. ANIMALS: Twenty-eight asymptomatic DP dogs with normal echocardiographic examinations. METHODS: Dogs with normal echocardiographic examinations underwent seven-day Holter monitoring. The presence of ≥50 ventricular premature complexes and or ≥ one couplet/one triplet/one episode of ventricular tachycardia per 24-h period was considered positive for DCMp. RESULTS: Five dogs were positive on the first day, and an additional six dogs tested positive from day two to seven of the Holter recording. The number of dogs positive for DCMp detected by four days was significantly different (p = 0.031) compared with the first-day Holter recording. CONCLUSIONS: Seven-day Holter recording detected significantly more dogs with DCMp compared with the first-day Holter recording. Follow-up studies are warranted to evaluate the long-term accuracy of multiple-day Holter analysis in predicting the development of DCM in DP dogs.


Assuntos
Cardiomiopatia Dilatada/veterinária , Doenças do Cão/diagnóstico , Eletrocardiografia Ambulatorial/veterinária , Animais , Cardiomiopatia Dilatada/diagnóstico , Cães , Ecocardiografia/veterinária , Eletrocardiografia Ambulatorial/métodos , Feminino , Masculino , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/veterinária
14.
G Ital Cardiol (Rome) ; 21(3): 195-208, 2020 Mar.
Artigo em Italiano | MEDLINE | ID: mdl-32100732

RESUMO

Cardiomyopathies are a heterogeneous group of cardiac diseases for which diagnosis and treatment are not always simple. The diagnosis of cardiomyopathy, in particular the etiology, comes from an integration between symptoms and results collected by several instrumental exams. The brain storming for the diagnosis includes also the identification of the "red flags", i.e. the pathognomonic features for each etiology that can drive the choice of appropriate diagnostic tests and therapy. In this review, we provide a step by step approach in order to help cardiologists, not specifically dedicated to cardiomyopathies, to draw the diagnosis, therapy and follow-up. This approach will be accompanied by the consultation of other specialists to discuss together the results of the exams performed and to deepen extracardiac signs and symptoms.


Assuntos
Cardiomiopatias/diagnóstico , Cardiomiopatias/genética , Fenótipo , Avaliação de Sintomas , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/genética , Displasia Arritmogênica Ventricular Direita/terapia , Cardiomiopatias/terapia , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/terapia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/terapia , Cardiomiopatia Restritiva/diagnóstico , Cardiomiopatia Restritiva/etiologia , Cardiomiopatia Restritiva/terapia , Diagnóstico Diferencial , Ecocardiografia , Eletrocardiografia , Humanos , Imagem Cinética por Ressonância Magnética , Tomografia por Emissão de Pósitrons , Encaminhamento e Consulta , Sarcoidose/diagnóstico
16.
Circulation ; 141(5): 387-398, 2020 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-31983221

RESUMO

BACKGROUND: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with >100 purported disease genes tested in clinical laboratories. However, many genes were originally identified based on candidate-gene studies that did not adequately account for background population variation. Here we define the frequency of rare variation in 2538 patients with DCM across protein-coding regions of 56 commonly tested genes and compare this to both 912 confirmed healthy controls and a reference population of 60 706 individuals to identify clinically interpretable genes robustly associated with dominant monogenic DCM. METHODS: We used the TruSight Cardio sequencing panel to evaluate the burden of rare variants in 56 putative DCM genes in 1040 patients with DCM and 912 healthy volunteers processed with identical sequencing and bioinformatics pipelines. We further aggregated data from 1498 patients with DCM sequenced in diagnostic laboratories and the Exome Aggregation Consortium database for replication and meta-analysis. RESULTS: Truncating variants in TTN and DSP were associated with DCM in all comparisons. Variants in MYH7, LMNA, BAG3, TNNT2, TNNC1, PLN, ACTC1, NEXN, TPM1, and VCL were significantly enriched in specific patient subsets, with the last 2 genes potentially contributing primarily to early-onset forms of DCM. Overall, rare variants in these 12 genes potentially explained 17% of cases in the outpatient clinic cohort representing a broad range of adult patients with DCM and 26% of cases in the diagnostic referral cohort enriched in familial and early-onset DCM. Although the absence of a significant excess in other genes cannot preclude a limited role in disease, such genes have limited diagnostic value because novel variants will be uninterpretable and their diagnostic yield is minimal. CONCLUSIONS: In the largest sequenced DCM cohort yet described, we observe robust disease association with 12 genes, highlighting their importance in DCM and translating into high interpretability in diagnostic testing. The other genes analyzed here will need to be rigorously evaluated in ongoing curation efforts to determine their validity as Mendelian DCM genes but have limited value in diagnostic testing in DCM at present. This data will contribute to community gene curation efforts and will reduce erroneous and inconclusive findings in diagnostic testing.


Assuntos
Proteínas Reguladoras de Apoptose/genética , Cardiomiopatia Dilatada/genética , Predisposição Genética para Doença , Testes Genéticos , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Adulto , Cardiomiopatia Dilatada/diagnóstico , Exoma/genética , Feminino , Heterogeneidade Genética , Humanos , Masculino , Adulto Jovem
17.
Can J Cardiol ; 36(1): 37-44, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31515085

RESUMO

BACKGROUND: Dilated cardiomyopathy (DCM) represents a specific phenotype of heart failure. Sex differences in the long-term prognosis of patients with DCM are unknown. The aim of this study is to investigate the long-term prognostic role of gender in a large cohort of patients with DCM. METHODS: A total of 1113 patients with DCM were prospectively enrolled. To investigate the impact of sex, a propensity score-matching analysis was performed on a sample of 586 patients. Univariable and multivariable Cox models and competing-risk analyses were estimated on both cohorts for the following outcome measures: (1) all-cause mortality/heart transplantation (HTx)/ventricular assist device (VAD); (2) cardiovascular mortality/HTx/VAD; and (3) sudden cardiac death or malignant ventricular arrhythmias. RESULTS: Women were older than men (50 ± 15 years vs 47 ± 15 years, respectively, P = 0.004) and more frequently had moderate to severe left ventricular dilation (P < 0.001) and left bundle branch block (P = 0.019). At multivariable analyses, male sex was independently associated with all considered outcome measures in the total cohort. At propensity score-matching analysis, over a median follow-up of 126 months (interquartile range, 62-201), 96 men (33%) vs 66 women (22%) experienced all-cause mortality/HTx/VAD (P = 0.03), 95 men (32%) vs 57 women (20%) experienced cardiovascular mortality/HTx/VAD (P = 0.025), and 46 men (16%) vs 28 women (10%) experienced sudden cardiac death/malignant ventricular arrhythmias (P = 0.07). CONCLUSION: The long-term outcomes of women affected by DCM are more favourable than those of men, and sex emerged as an important independent factor, particularly for cardiovascular outcomes.


Assuntos
Cardiomiopatia Dilatada/epidemiologia , Ventrículos do Coração/diagnóstico por imagem , Volume Sistólico/fisiologia , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/fisiopatologia , Progressão da Doença , Ecocardiografia Doppler , Feminino , Seguimentos , Ventrículos do Coração/fisiopatologia , Humanos , Incidência , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Fatores Sexuais , Fatores de Tempo
18.
Nat Rev Cardiol ; 17(5): 286-297, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31605094

RESUMO

Given the global burden of heart failure, strategies to understand the underlying cause or to provide prognostic information are critical to reducing the morbidity and mortality associated with this highly prevalent disease. Cardiomyopathies often have a genetic cause, and the field of heart failure genetics is progressing rapidly. Through a deliberate investigation, evaluation for a familial component of cardiomyopathy can lead to increased identification of pathogenic genetic variants. Much research has also been focused on identifying markers of risk in patients with cardiomyopathy with the use of genetic testing. Advances in our understanding of genetic variants have been slightly offset by an increased recognition of the heterogeneity of disease expression. Greater breadth of genetic testing can increase the likelihood of identifying a variant of uncertain significance, which is resolved only rarely by cellular functional validation and segregation analysis. To increase the use of genetics in heart failure clinics, increased availability of genetic counsellors and other providers with experience in genetics is necessary. Ultimately, through ongoing research and increased clinical experience in cardiomyopathy genetics, an improved understanding of the disease processes will facilitate better clinical decision-making about the therapies offered, exemplifying the implementation of precision medicine.


Assuntos
Cardiomiopatia Dilatada/genética , Gerenciamento Clínico , Insuficiência Cardíaca/etiologia , Cardiomiopatia Dilatada/complicações , Cardiomiopatia Dilatada/diagnóstico , Testes Genéticos , Insuficiência Cardíaca/genética , Humanos
19.
Curr Opin Cardiol ; 35(1): 52-57, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31574005

RESUMO

PURPOSE OF REVIEW: Dilated cardiomyopathy (DCM) is a rare myocardial disorder characterized by a dilated left ventricle and systolic dysfunction. Globally, it affects around 1 in every 100 000 children. The prognosis is generally poor, with 40% either failing traditional medical therapy within the first 2 years or requiring a heart transplant. This article will address the basic cause, epidemiology, pathobiology, and historical treatment approach of DCM and introduce novel contemporary medical and surgical strategies that may reduce the need for heart transplantation. RECENT FINDINGS: In the last 15 years, there has been a significant emphasis on identifying alternative treatment strategies in managing the child with a DCM and heart failure symptoms. New therapies have evolved to help bridge these critically ill children to transplant or have these therapeutic modalities serve as end-points in themselves. Thus subsequently, we will highlight contemporary as well as novel medical and procedural therapies that are being used for the treatment of pediatric DCM. SUMMARY: The child with a DCM and severe left ventricular dysfunction has a number of options available beyond simple diuretics and afterload reduction. Novel pacing strategies and mechanical assist device may provide not only a more stable clinical bridge environment but also may actually serve as an endpoint itself.


Assuntos
Cardiomiopatia Dilatada/diagnóstico , Insuficiência Cardíaca , Transplante de Coração , Disfunção Ventricular Esquerda , Criança , Humanos , Miocárdio
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA