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1.
J Cardiovasc Dev Dis ; 11(3)2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38535114

RESUMO

BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder that manifests as impaired low-density lipoprotein cholesterol (LDL-C) metabolism, resulting in lifelong exposure to high cholesterol levels and increased risk of cardiovascular disease (CVD). There is heterogeneity in cardiovascular risk for FH patients, so risk stratification is of utmost importance. The aim of this study was to evaluate the impact of increases in LDL-C and the impact of other CVD risk factors on vascular markers in the FH patient population. METHODS: A total of 428 patients were included in this study and divided into two groups according to age: ≤40 years in the first group and ≥41 years in the second group. Vascular markers of atherosclerosis included the common carotid artery (CCA) intima-media thickness (IMT), pulse wave velocity (PWV), flow-mediated dilation (FMD), ankle-brachial index (ABI), and cardio-vascular index (CAVI). The influence of traditional CVD risk factors on atherosclerotic changes in vascular markers was analyzed. RESULTS: A statistically significant difference in IMT was detected between the same sex and different age groups (p < 0.001), whereas no significant difference was detected between the sexes within each age group. In the ≤40-year-old group, the mean IMT among males was 612.5 µm (±88.2) and that among females was 580.6 µm (±77.7) (p > 0.05); in the ≥41-year-old group, the mean IMT was 697.4 µm (±138.4) for males and 700.3 µm (±114.4) for females (p > 0.05). Higher LDL-C was associated with greater IMT (r = 0.405; p = 0.009) in the younger age group (≤40 years); however, in the older age group (≥41 years), this correlation was not evident (r = -0.07; p = 0.596). Carotid plaque formation was more common among males (OR = 2.2; 95% CI: 1.2-4.0) and hypertensive patients (OR = 2.7; 95% CI: 1.6-4.7). Age was a mildly significant risk factor for increased ABI (ß = 0.13, p < 0.05). FMD was found to be impaired for all patients, and no risk factors were shown to have further influence. Age was a significant risk factor for increased arterial stiffness, as measured by both the CAVI and PWV. CONCLUSIONS: Although vascular markers of atherosclerosis may provide a unique and valuable way to evaluate cardiovascular risk, the results of this study show that only increased IM thickness could be beneficial for risk stratification in young FH patients, whereas other vascular markers of atherosclerosis would be excessive, as they do not provide merit in risk evaluation in this population.

2.
Medicina (Kaunas) ; 60(2)2024 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-38399526

RESUMO

Background and Objectives: Hereditary transthyretin amyloidosis (ATTRv) is a rare disease caused by pathogenic variants in the transthyretin (TTR) gene. More than 140 different disease-causing variants in TTR have been reported. Only a few individuals with a rare TTR variant, c.302C>T, p.(Ala101Val) (historically known as p.(Ala81Val)), primarily associated with cardiac ATTRv, have been described. Therefore, our aim was to analyze the clinical characteristics of individuals with the identified c.302C>T TTR variant at our center. Materials and Methods: We analyzed data from individuals with ATTRv who were diagnosed and treated at Vilnius University Hospital Santaros Klinikos. ATTRv was confirmed by negative hematological analysis for monoclonal protein, positive tissue biopsy or bone scintigraphy and a pathogenic TTR variant. Results: During 2018-2021, the TTR NM_000371.3:c.302C>T, NP_000362.1:p.(Ala101Val) variant was found in one individual in a homozygous state and in three individuals in a heterozygous state. The age of onset of symptoms ranged from 44 to 74 years. The earliest onset of symptoms was in the individual with the homozygous variant. A history of carpal tunnel syndrome was identified in two individuals. On ECG, three individuals had low QRS voltage in limb leads. All individuals had elevated NT-proBNP and hsTroponine I levels on baseline laboratory tests and concentric left ventricular hypertrophy on transthoracic echocardiography. The individual with the homozygous c.302C>T TTR variant had the most pronounced polyneuropathy with tetraparesis. Other patients with the heterozygous variant had more significant amyloid cardiomyopathy. When screening family members, the c.302C>T TTR variant was identified in two phenotypically negative relatives at the ages of 33 and 47 years. Conclusions: c.302C>T is a rare TTR variant associated with ATTRv cardiomyopathy. The homozygous state of this variant was not reported before, and is associated with earlier disease onset and neurological involvement compared to the heterozygote state.


Assuntos
Neuropatias Amiloides Familiares , Cardiomiopatias , Adulto , Idoso , Humanos , Pessoa de Meia-Idade , Neuropatias Amiloides Familiares/genética , Neuropatias Amiloides Familiares/complicações , Neuropatias Amiloides Familiares/patologia , Cardiomiopatias/genética , Cardiomiopatias/complicações , Eletrocardiografia , Pré-Albumina/genética , Pré-Albumina/análise , Pré-Albumina/metabolismo
3.
Eur Heart J Case Rep ; 7(10): ytad486, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37908547

RESUMO

Background: Kawasaki disease (KD) is an acute systemic vasculitis syndrome, mostly targeting children under 5 years old. If untreated, coronary artery abnormalities develop to approximately one out of four patients who suffered from KD. As KD might be easily missed in childhood, managing cardiovascular complications might become a real challenge at an advanced age. Case summary: A 25-year-old woman was presented to a skying resort hospital with discomfort in chest, shortness of breath, cold sweat, and dizziness after skiing. Based on increased troponin level and ECG findings, the specialists diagnosed myocarditis and initiated treatment with non-steroidal anti-inflammatory drugs. After the symptoms recurred in half a year, there was a need for further clarification of the diagnosis of myocarditis. The patient received a comprehensive cardiac imaging evaluation at Vilnius University Santaros Clinic to differentiate the cause of the recurrent chest pains. Coronary artery computed tomography revealed presence of aneurysm with wall calcification in left anterior descending artery S6-10 mm in diameter and aneurysm of circumflex artery S11-7 mm in diameter as well as occlusion of calcified right coronary artery. After taking a detailed medical history, a presumption about a former case of KD has been made. Discussion: Coronary artery aneurysm is a cardiovascular sequelae of KD if it is left untreated. Due to atypical presentation, it might be overlooked, while the key of successful KD management is an early diagnosis and therapy.

4.
BMJ Open ; 12(9): e061611, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36581965

RESUMO

OBJECTIVES: To evaluate the potential of soluble cluster of differentiation 146 (sCD146) in the detection and grading of congestion in patients with acute dyspnoea. DESIGN: Subanalysis of the prospective observational Lithuanian Echocardiography Study of Dyspnoea in Acute Settings (LEDA) cohort. SETTING: Two Lithuanian university centres. PARTICIPANTS: Adult patients with acute dyspnoea admitted to the emergency department. METHODS: Congestion was assessed using clinical and sonographic parameters. All patients underwent sCD146 and N-terminal pro-B-type natriuretic peptide (NT-proBNP) testing. RESULTS: The median value of sCD146 concentration in the study cohort (n=437) was 405 (IQR 315-509) ng/mL. sCD146 was higher in patients with peripheral oedema than in those without (median (IQR) 472 (373-535) vs 400 (304-501) ng/mL, p=0.009) and with pulmonary rales than in those without (439 (335-528) vs 394 (296-484) ng/mL, p=0.001). We found a parallel increase of estimated right atrial pressure (eRAP) and sCD146 concentration: sCD146 was 337 (300-425), 404 (290-489) and 477 (363-572) ng/mL in patients with normal, moderately elevated and high eRAP, respectively (p=0.001). In patients with low NT-proBNP, high sCD146 distinguished a subgroup with a higher prevalence of oedema as compared with patients with low levels of both biomarkers (76.0% vs 41.0%, p=0.010). Moreover, high sCD146 indicated a higher prevalence of elevated eRAP, irrespective of NT-proBNP concentration (p<0.05). CONCLUSION: sCD146 concentration reflects the degree of intravascular and tissue congestion assessed by clinical and echocardiographic indices, with this association maintained in patients with low NT-proBNP. Our data support the notion that NT-proBNP might represent heart stretch while sCD146 rather represents peripheral venous congestion.


Assuntos
Ecocardiografia , Insuficiência Cardíaca , Adulto , Humanos , Antígeno CD146 , Lituânia , Peptídeo Natriurético Encefálico , Estudos Prospectivos , Biomarcadores , Dispneia/diagnóstico , Fragmentos de Peptídeos
5.
Medicine (Baltimore) ; 101(29): e29579, 2022 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-35866759

RESUMO

High-sensitivity troponin assay brought new challenges as we detect elevated concentration in many other diseases, and it became difficult to distinguish the real cause of this elevation. In this notion, diagnosis of acute coronary syndrome (ACS) remains a challenge in emergency department (ED). We aim to examine different approaches for rule-in and rule-out of ACS using risk scores, copeptin, and coronary computed tomography angiography (CCTA). A prospective observational study was designed to evaluate chest pain patients. Consecutive adult patients admitted to the ED with a chief complaint of chest pain due to any cause were included. All patients were followed-up for 6 months after discharge for major adverse cardiovascular events and readmissions. Admission data, ED processes, and diagnoses were analyzed. One hundred forty-six patients were included, average age was 63 ± 13.4 years, and 95 (65.1%) were male. Global Registry of Acute Coronary Events (GRACE) and History, ECG, Age, Risk factors, Troponin (HEART) scores showed good prognostic abilities, but HEART combination with copeptin improves diagnoses of myocardial infarction (area under the curve [AUC] 0.764 vs AUC 0.864 P = .0008). Patients with elevated copeptin were older, had higher risk scores, and were more likely to be admitted to hospital and diagnosed with ACS in ED. For copeptin, AUC was 0.715 (95% confidence interval 0.629-0.803), and for combination with troponin, AUC of 0.770 (0.703-0.855) did not improve rule-in of myocardial infarction. High-sensitivity troponin I assay alongside prior stroke, history of carotid stenosis, dyslipidemia, use of diuretics, and electrocardiogram changes (left bundle branch block or ST depression) are good predictors of myocardial infarction (χ² = 52.29, AUC = 0.875 [0.813-0.937], P < .001). The regression analysis showed that combination of copeptin and CCTA without significant stenosis can be used for ACS rule-out (χ² = 26.36, P < .001, AUC = 0.772 [0.681-0.863], negative predictive value of 96.25%). For rule-in of ACS, practitioner should consider not only scores for risk stratification but carefully analyze medical history and nonspecific electrocardiogram changes and even with normal troponin results, we strongly suggest thorough evaluation in chest pain unit. For rule-out of ACS combination of copeptin and CCTA holds great potential.


Assuntos
Síndrome Coronariana Aguda , Infarto do Miocárdio , Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/diagnóstico , Adulto , Idoso , Biomarcadores , Dor no Peito/diagnóstico , Dor no Peito/etiologia , Serviço Hospitalar de Emergência , Feminino , Glicopeptídeos , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Troponina I
6.
Acta Med Litu ; 28(1): 127-135, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34393635

RESUMO

SUMMARY BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable cardiomyopathy, characterized by fibrofatty replacement of myocytes in the right ventricular, left ventricular or both ventricles. It is caused by pathogenic variants of genes encoding desmosomal (JUP, DSP, PKP2, DSG2, DSC2) and non-desmosomal proteins, and is one of the most common causes of sudden cardiac death in young athletes. Therefore, early identification, correct prevention and treatment can prevent adverse outcomes. CASE REPORT: Our case presents a 65-years-old man with recurrent ventricular tachycardia. The ischemic cause was the first to rule out. Echocardiography revealed right ventricular structural and functional abnormalities. After suspicion of ARVC, magnetic resonance imaging was performed showing reduced right ventricular ejection fraction with local aneurysms, structural changes ir the right and left myocardium. Subsequently performed genetic testing identified a novel ARVC likely pathogenic variant in DSC2 gene and variant of uncertain significance in RYR2 gene. CONCLUSIONS: Diagnostic evaluation of ARVC is challenging and requires multidisciplinary team collaboration. Further functional tests for elucidation of the clinical significance of the two novel variants of ARVC-associated genes could be suggested.

7.
Medicina (Kaunas) ; 57(7)2021 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-34357002

RESUMO

Congenital long QT syndrome (LQTS) is a hereditary ion channelopathy associated with ventricular arrhythmia and sudden cardiac death starting from young age due to prolonged cardiac repolarization, which is represented by QT interval changes in electrocardiogram (ECG). Mutations in human ether-à-go-go related gene (KCNH2 (7q36.1), formerly named hERG) are responsible for Long QT syndrome type 2 (LQT2). LQT2 is the second most common type of LQTS. A resuscitated 31-year-old male with the diagnosis of LQT2 and his family are described. Sequencing analysis of their genomic DNA was performed. Amino acid alteration p.(Ser631Pro) in KCNH2 gene was found. This variant had not been previously described in literature, and it was found in three nuclear family members with different clinical course of the disease. Better understanding of genetic alterations and genotype-phenotype correlations aids in risk stratification and more effective management of these patients, especially when employing a trigger-specific approach to risk-assessment and individually tailored therapy.


Assuntos
Parada Cardíaca , Síndrome do QT Longo , Adulto , Morte Súbita Cardíaca/etiologia , Canal de Potássio ERG1/genética , Canais de Potássio Éter-A-Go-Go/genética , Parada Cardíaca/genética , Humanos , Síndrome do QT Longo/complicações , Síndrome do QT Longo/genética , Masculino , Mutação
8.
J Electrocardiol ; 68: 157-163, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34455115

RESUMO

BACKGROUND: ST/T abnormalities recognized as electrocardiographic (ECG) left ventricular (LV) strain pattern are known as a marker of myocyte death and reduced survival. The purpose of this study was to determine whether ECG LV strain pattern, its components and atrial fibrillation (AF) predict lower survival at the time of diagnosis of systemic light chain (AL) amyloidosis. METHODS: 12­lead surface electrocardiogram (ECG), standard two-dimensional echocardiography, laboratory analyses were retrospectively evaluated within 2 months of diagnosis in 87 patients with biopsy-proven systemic AL amyloidosis from 2009 to 2017 in a single center. ECG strain pattern was defined as coexistence of ST-segment horizontal or downward sloping depression ≥0.05 mV at its most horizontal section and negative asymmetrical T-wave deeper than 0.1 mV in at least 1 of leads I,aVL,V1-V6. Patients with QRS >120 ms (BBB or major IVCD) were excluded from the analysis. RESULTS: Kaplan-Meier survival analysis revealed a 1.8-fold shorter overall survival (OS) at 2 years in the ECG strain (21% of participants) group (p = 0.0078), 2.0-fold shorter OS in the ST-segment depression (STd) (isolated and strain related as one group) (34% of participants) group (p < 0.0001), and 3.9-fold shorter OS in AF (23% of participants) group (p < 0.0001) compared with those without. Median survival of patients with STd and AF were and 13.0 (range 1-74) and 9.5 (range 1-74) months respectively. In univariate analysis STd and AF were stronger predictors of inferior OS than relative wall thickness, average E/e' ratio, and LV ejection fraction, but weaker predictors of OS than B-type natriuretic peptide. In multivariate analysis STd and AF lost significance after adjustment for age, gender, number of organs involved and BNP. CONCLUSIONS: ST-segment depression and AF were not significantly associated with reduced survival in AL amyloidosis at diagnosis.


Assuntos
Amiloidose , Fibrilação Atrial , Amiloidose de Cadeia Leve de Imunoglobulina , Amiloidose/diagnóstico , Amiloidose/epidemiologia , Fibrilação Atrial/diagnóstico , Depressão , Eletrocardiografia , Humanos , Incidência , Estudos Retrospectivos
9.
Respiration ; 100(10): 949-957, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34044412

RESUMO

BACKGROUND: Pulmonary hypertension (PH) is a severe progressive disease, associated with reduced exercise capacity and poor quality of life. Although scientific evidence supports the incorporation of specialized training in the treatment of PH, it is only available in a few countries. OBJECTIVES AND METHODS: This article aims to share the experience of implementing a PH rehabilitation program, to summarize the barriers and prerequisites for launching this service, and to assess its early effect. We retrospectively analyzed our pathway in organizing this program, by singling out essential steps. RESULTS: The preparation phase took about 14 months. Establishing and running of a PH rehabilitation program required dedicated rehabilitation specialists to join the multidisciplinary PH expert team. Team members needed to gain special knowledge on exercise training in severely compromised patients; thus, supervision and education by experienced consultants was crucial. The main eligibility criteria for patients were stable status, optimal medical treatment, and motivation to undergo the training. The first results evaluating the effect of a specialized PH training program in 9 patients are promising. Seven of them improved their functional capacity over the period of 15 weeks. CONCLUSIONS: Despite a number of challenges and barriers, the implementation of a specialized rehabilitation program should be encouraged in a few dedicated PH expert centers per country, who are capable to fulfill all prerequisites and organizational aspects. Local PH experts, supervision by an experienced center, in-patient rehabilitation facilities, dedicated personnel, equipment, and patient motivation are essential.


Assuntos
Hipertensão Pulmonar , Exercício Físico , Terapia por Exercício/métodos , Humanos , Qualidade de Vida , Estudos Retrospectivos
10.
Clin Res Cardiol ; 110(8): 1221-1233, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33216179

RESUMO

BACKGROUND: Both loop diuretics (LDs) and congestion have been related to worse heart failure (HF) outcome. The relationship between the cause and effect is unknown. The aim of this study was to investigate the interaction between congestion, diuretic use and HF outcome. METHODS: Six hundred and twenty-two chronic HF patients from TIME-CHF were studied. Congestion was measured by means of a clinical congestion index (CCI). Loop diuretic dose was considered at baseline and month 6. Treatment intensification was defined as the increase in LD dose over 6 months or loop diuretic and thiazide or thiazide-like diuretic co-administration. The end-points were survival and HF hospitalisation-free survival. RESULTS: High-LD dose at baseline and month 6 (≥ 80 mg of furosemide per day) was not identified as an independent predictor of outcome. CCI at baseline remained independently associated with impaired survival [hazard ratio (HR) 1.34, (95% confidence interval) (95% CI) (1.20-1.50), p < 0.001] and HF hospitalisation-free survival [HR 1.09, 95% CI (1.02-1.17), p = 0.015]. CCI at month 6 was independently associated with HF hospitalisation-free survival [HR 1.24, 95% CI (1.11-1.38), p < 0.001]. Treatment intensification was independently associated with survival [HR 1.75, 95% CI (1.19-1.38), p = 0.004] and HF hospitalisation-free survival [HR 1.69, 95% CI (1.22-2.35), p = 0.002]. Patients undergoing treatment intensification resulting in decongestion had better outcome than patients with persistent (worsening) congestion despite LD dose up-titration (p < 0.001). CONCLUSION: Intensification of pharmacological decongestion but not the actual LD dose was related to poor outcome in chronic HF. If treatment intensification translated into clinical decongestion, outcome was better than in case of persistent or worsening congestion.


Assuntos
Furosemida/administração & dosagem , Insuficiência Cardíaca/tratamento farmacológico , Inibidores de Simportadores de Cloreto de Sódio e Potássio/administração & dosagem , Tiazidas/administração & dosagem , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Progressão da Doença , Feminino , Alemanha , Humanos , Masculino , Suíça
11.
Adv Ther ; 37(6): 3010-3018, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32221794

RESUMO

INTRODUCTION: Lithuania has one of the highest mortality rates from coronary heart disease (CHD) among European countries. Most CHD are preventable, but when they occur, the management of these patients is important in secondary prevention. The purpose of the present analysis was to describe the demographics, clinical profile, and contemporary management of patients with stable CHD in the Lithuanian population and to compare data with other Central Eastern European countries. METHODS: CLARIFY (prospective observational longitudinal registry of patients with stable CHD) is an international cohort study in outpatients with stable CHD. Treated outpatients with established CHD from the CLARIFY registry in Lithuania (214 patients) were compared with those from the rest of Central Eastern Europe (2794 patients). RESULTS: Lithuanian patients were younger (p = 0.0275), had a higher body mass index (p = 0.0003), and more frequently received treatment for hypertension (p < 0.0001). Prevalence of dyslipidemia (p < 0.0001) was higher in Lithuanian patients but a smaller group of people had diabetes (p < 0.0001). The total cholesterol (p < 0.0001), low-density lipoprotein cholesterol (p < 0.0001), and blood pressure (p < 0.0001) were higher in the Lithuanian population. A smaller proportion of Lithuanian patients were physically inactive, and the majority of patients in Lithuania were engaged in light physical activity compared with Central Eastern European patients (p = 0.0018). CONCLUSION: The data analysis shows that management of hypertension, dyslipidemia, smoking, and obesity in patients with CHD in Lithuania is insufficient and needs further improvement.


Type 2 diabetes mellitus [Lithuania has one of the highest mortality rates from cardiovascular disease (CVD) among European countries. The purpose of the present analysis was to describe the demographics, clinical profile, and contemporary management of patients with stable CVD in the Lithuanian population and to compare data with other Central Eastern European countries. Our data shows that management of elevated blood pressure, abnormal amounts of lipids, smoking, and excessive weight in Lithuanian patients with CVD is insufficient compared with the rest of Central Eastern Europe and needs further improvement].


Assuntos
Fatores Etários , Índice de Massa Corporal , Doença da Artéria Coronariana/epidemiologia , Doença da Artéria Coronariana/mortalidade , Fatores Socioeconômicos , Idoso , Causas de Morte , Estudos de Coortes , Diabetes Mellitus/epidemiologia , Dislipidemias/epidemiologia , Europa (Continente)/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Lituânia/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Fatores de Risco , Fumar/epidemiologia
12.
Medicina (Kaunas) ; 55(9)2019 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-31546957

RESUMO

Background and Objectives: Infective endocarditis in the pulmonary position is a rare disease. Isolated pulmonary valve endocarditis is extremely rare. The aim of our study was to assess patients who were treated surgically for pulmonary endocarditis at our institution from January 2003 to December 2017. Materials and Methods: We analyze eight cases of infectious endocarditis in pulmonary position out of 293 patients who were operated for infective endocarditis (2.7%, 8/293). Only two of these eight patients were not related to congenital heart malformation. They were followed for early and late mortality, long-term survival, postoperative morbidity and reoperations. Results: Among six patients suffering from congenital heart disease, four patients underwent corrections of pulmonary valve malformation previously, and their infected grafts were replaced by two allografts and two xenografts. The two other patients had replaced their infected pulmonary valves with allografts. Two non-congenital patients with pulmonary valve endocarditis underwent valve replacement with biological prosthesis. All patients survived the early postoperative course. The mean follow-up time was 9.1 (interquartile range (IQR), 5.3-12.6) years. The long-term follow-up included seven patients. One patient (12.5%, 1/8) died more than 4 years after the surgery due to sepsis. Pulmonary endocarditis was the rarest endocarditis treated surgically (p < 0.001). Conclusion: Surgery for infective endocarditis in the pulmonary position (IEPP) is an effective method of treatment with excellent early outcome and good late results despite a very uncommon pathology and few operations being performed. Surgery performed earlier may make the procedure less radical.


Assuntos
Endocardite/cirurgia , Complicações Pós-Operatórias/mortalidade , Valva Pulmonar/cirurgia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Endocardite/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mortalidade , Reoperação/estatística & dados numéricos , Resultado do Tratamento , Adulto Jovem
13.
Medicina (Kaunas) ; 55(5)2019 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-31067829

RESUMO

Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD-causing mutations have been identified in the human GLA gene. We identified a novel mutation in a Lithuanian family with classical manifestations of Fabry disease, revealing severe effects to the cardiovascular systems of heterozygous women. Case presentation: A 49-year-old woman underwent echocardiography due to progressive dyspnea that lasted seven years, reduced physical activity, and periodic cardiac arrhythmia. Echocardiography revealed left ventricular hypertrophy with normal diastolic function. The patient had experienced acroparesthesia in her upper limbs and abdominal pain since childhood, and in the last decade had experienced mild proteinuria without renal failure. Her renal biopsy was typical for Fabry disease. The patient's brain magnetic resonance imaging (MRI) (T2 flair) showed white matter hyperintensities lesions. DNA sequencing of the proband, her mother and one of her sons showed a novel GLA gene exon 2 mutation, c.270C>G (p.Cys90Trp). All three patients had decreased α-galactosidase A activity and specific FD manifestations. Conclusion: A novel GLA mutation, c.270C>G (p.Cys90Trp), was found in a Lithuanian family with a classical form of Fabry disease in heterozygous women with predominant cardiac involvement. However, the exact manifestation of this mutation is still unclear as it is newly reported and further research must be done.


Assuntos
Doença de Fabry/genética , alfa-Galactosidase/análise , Dispneia/etiologia , Eletrocardiografia/métodos , Doença de Fabry/epidemiologia , Feminino , Glicolipídeos/análise , Glicolipídeos/sangue , Humanos , Lituânia , Pessoa de Meia-Idade , Mutação/fisiologia , Esfingolipídeos/análise , Esfingolipídeos/sangue , alfa-Galactosidase/sangue
14.
Acta Med Litu ; 25(1): 1-6, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29928151

RESUMO

INTRODUCTION: Rapid eye movement (REM) sleep-related bradyarrhythmia syndrome is characterized by pathological asystoles during the REM sleep phase. It is a rare rhythm disorder, being reported only few times in the literature. Due to non-specific symptoms, REM sleep-related bradyarrhythmia might be often underdiagnosed. Other cardiac diseases associated with pathological sinus arrests must be excluded to establish the correct diagnosis of and appropriate therapy for REM sleep-related bradyarrhythmia. We report a case of this syndrome followed by hypertension and diastolic heart failure. THE CASE: A 49-year-old male with severe hypertension presented for a cardiologist's consultation. His main complaints were palpitations, fatigue, dyspnoea, and snoring. Polysomnography test revealed a normal sleep structure with episodes of bradycardia and increased parasympathetic activity during phasic events of REM sleep. Heart rate variability Poincare plot analysis demonstrated similar results. REM sleep-related bradyarrhythmia syndrome was diagnosed and patient was treated with dual chamber heart pacemaker implantation. DISCUSSION: Various components of the autonomic nervous system influence the development of REM sleep-related bradyarrhythmia syndrome. The main factor is likely an increased vagal tone during the phasic REM sleep with the absence of normal compensatory sympathetic activity. Concomitant hypertension in REM sleep-related bradyarrhythmia syndrome is caused by a paradoxically abnormal control of the autonomic nervous system and can be explained through the acetylcholine metabolism pathway. Best suited diagnostic and treatment options for REM sleep-related bradyarrhythmia syndrome are discussed. CONCLUSIONS: Patients with REM sleep-related bradyarrhythmia syndrome often present with indistinct symptoms. Polysomnography is an essential diagnostic test for the differential diagnosis of various nocturnal arrhythmias and sleep disorders. Severe hypertension is a common complication of sleep disorders and requires appropriate treatment of the underlying condition. An implantation of a heart pacemaker is the first-choice treatment for patients with REM sleep-related bradyarrhythmia syndrome.

15.
Am J Med ; 131(6): 703.e1-703.e5, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29408019

RESUMO

OBJECTIVE: Atrial fibrillation is the most common cardiac arrhythmia and a known risk factor for cerebrovascular stroke. Atrial fibrillation and longstanding hypertension may produce ischemic lesions leading to progressive cognitive impairment. The impact of atrial fibrillation alone on cognitive impairment has not been evaluated. Our objective was to compare cognitive function, quality of life, psychological distress, and impulsiveness in people with atrial fibrillation and a matched control group. METHODS: The study included 60 patients. The first group of patients were ≥55 years of age, with ≥5 years history of atrial fibrillation, without hypertension (or with well-controlled hypertension), without previous dementia, compared with a matched group of 30 healthy control participants. Demographic and clinical characteristics were recorded. Subjects underwent the following rating scales: Mini-Mental State Examination, Hospital Anxiety and Depression, Heart Quality of Life, and Barratt Impulsiveness Scale. RESULTS: In the atrial fibrillation group there were 63% male (n = 19) and 37% female (n = 11) patients; the control group was 33% male (n = 10) and 67% female (n = 20). Age range was from 55 to 81 years in both groups, mean = 63.9 years (±6.4) in the atrial fibrillation group and 66.1 years (±8.0) in controls. In the atrial fibrillation group, 23.3% had primary or general education, college - 23.3% and university - 53.3%; in the control group - 20%, 23.3%, and 56.7%, respectively. Mini-Mental State Examination score was 27.6 (±1.6) in the atrial fibrillation group vs 29.5 (±0.73) in the control group (P < .0001). Anxiety disorders were observed in 20 patients (66.7%) in atrial fibrillation vs 8 patients (26.67%) in the control group (P = .009). Heart Quality of Life mean score was 1.4 (±0.65) in the atrial fibrillation and 2.6 (±0.35) in the control group (P < .0001). Physical subscale mean scores were 1.4 (±0.74) in atrial fibrillation vs 2.8 (±0.18) in the control group (P < .0001). CONCLUSION: Individuals with atrial fibrillation are more likely to develop anxiety disorder. Cognitive status is significantly lower in the atrial fibrillation group. In comparison with healthy subjects, individuals with atrial fibrillation have worse quality of life.


Assuntos
Transtornos de Ansiedade/etiologia , Fibrilação Atrial/complicações , Transtornos Cognitivos/etiologia , Comportamento Impulsivo , Qualidade de Vida , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
16.
BMC Cardiovasc Disord ; 17(1): 87, 2017 03 23.
Artigo em Inglês | MEDLINE | ID: mdl-28335730

RESUMO

BACKGROUND: The aim of our study was to investigate the reliability of automated oscillometric blood pressure (BP) monitoring in the presence and absence of atrial fibrillation (AF) in hypertensive patients. METHODS: BP was measured and compared in 71 randomly selected patients with AF and arterial hypertension diagnosis, 4 times each by auscultatory and oscillometric (Microlife BP A6 PC with AF detection system) methods. RESULTS: Study included 71 patients: 36 males (mean age 67.4 years) and 35 females (70.2 years). At the time of BP measuring procedure, 36 patients were in sinus rhythm (SR) and 35 in AF. In SR patients mean systolic blood pressure (SBP) was 132 ± 17.9 mmHg with auscultatory method (AM), 137.4 ± 19.4 mmHg with oscillometric method (OM); mean diastolic BP was 77.1 ± 10.9 mmHg (AM), 78.5 ± 12.2 mmHg (OM), in AF patients mean SBP was 127.5 ± 15.1 mmHg (AM), 133.6 ± 17.4 mmHg (OM); mean diastolic BP was 81.4 ± 9.9 mmHg (AM), 83.5 ± 11.8 mmHg (OM), p = 0.037. The averages of differences for SBP and DBP in sinus rhythm group were (-5.3 mmHg (95% limits of agreement -27.2 - 16.6)) and (-1.4 mmHg (95% limits of agreement -12.8 - 10.0)), respectively. In patients with AF the averages of differences for SBP and DBP were (-6.1 mmHg (95% limits of agreement -23.9 - 11.7)) and (-2.1 mmHg (95% limits of agreement -12.9 - 8.7)), respectively. CONCLUSIONS: The oscillometric device validated for patients with AF on average gives 5.3 mmHg higher systolic BP values for patients with SR and 6.3 mmHg higher BP values for patients with AF. However, the limits of agreement between two methods reveal wide range of random error rates which is a questionable topic in clinical practice, as it could possibly affect the treatment of arterial hypertension in patients with AF.


Assuntos
Pressão Arterial , Fibrilação Atrial/complicações , Determinação da Pressão Arterial/métodos , Auscultação Cardíaca , Hipertensão/diagnóstico , Idoso , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/fisiopatologia , Estudos Transversais , Feminino , Humanos , Hipertensão/complicações , Hipertensão/fisiopatologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Oscilometria , Valor Preditivo dos Testes , Reprodutibilidade dos Testes
17.
BMC Cardiovasc Disord ; 17(1): 67, 2017 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-28228120

RESUMO

BACKGROUND: To evaluate a diagnostic value of transoesophageal echocardiogram (TEE) in appropriately anticoagulated patients with a non-valvular atrial fibrillation (AF) and to establish possible additional indications for TEE; to evaluate the incidence of left atrial (LA) thrombi in appropriately anticoagulated patients in daily clinical practice. METHODS: This retrospective study analyses data of 432 patients who had been anticoagulated by means of oral anticoagulants (OACs) prior to planned cardioversion during the period from 2012 to 2015. Thromboembolic (TE) and bleeding risks were assessed using CHA2DS2-VASc and HAS-BLED scores. Transthoracic and transoesophageal echocardiograms were evaluated. TE complications during 30 days after discharge were assessed. RESULTS: 432 patients were selected, aged from 22 to 89 years (mean 65.0 ±11.5), 277 (64.1%) males and 155 (35.9%) females, 306 (70.8%) on warfarin and 126 (29.2%) on non-vitamin K antagonist oral anticoagulants (NOAC). Mean CHA2DS2-VASc score was 3.5 ±1.5. TEE was performed for 120 (27.8%) patients, more frequently for patients on NOACs and for ones with III° LA enlargement. TEE revealed LA thrombi in seven (5.8%) of the patients. In warfarin and NOACs groups thrombi were revealed in five (7.0%) and two (4.1%) patients, respectively. TEE did not reveal any thrombi in patients with normal left ventricular (LV) function; however, thrombi were found in two (6.1%) patients with slightly decreased LV function, and in five (17.9%) patients with markedly decreased LV function. In patients with decreased left ventricular ejection fraction (LVEF) thrombi in LA were found more frequently than in patients with normal and slightly decreased LVEF (17.9% vs 2.2%, p=0.008). CHA2DS2-VASc score of all 7 patients was ≥5. None of the patients after cardioversion had TE complications 30 days after discharge. CONCLUSIONS: The risk of LA thrombi in patients prepared for scheduled cardioversion in line with the guidelines is low. Higher risk of thrombi was present in patients with decreased LVEF (≤40%), CHA2DS2-VASc ≥5. In order to assess more accurately indications to perform TEE for appropriately anticoagulated patients prior to scheduled cardioversion a study with larger number of patients is required.


Assuntos
Anticoagulantes/administração & dosagem , Fibrilação Atrial/diagnóstico por imagem , Fibrilação Atrial/tratamento farmacológico , Ecocardiografia Transesofagiana , Cardioversão Elétrica , Trombose/diagnóstico por imagem , Trombose/prevenção & controle , Administração Oral , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticoagulantes/efeitos adversos , Fibrilação Atrial/fisiopatologia , Esquema de Medicação , Cardioversão Elétrica/efeitos adversos , Feminino , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Recuperação de Função Fisiológica , Estudos Retrospectivos , Fatores de Risco , Volume Sistólico , Trombose/fisiopatologia , Fatores de Tempo , Resultado do Tratamento , Função Ventricular Esquerda , Adulto Jovem
18.
Medicina (Kaunas) ; 45(3): 169-76, 2009.
Artigo em Lituano | MEDLINE | ID: mdl-19357445

RESUMO

OBJECTIVE: The aim of this study was to evaluate factors influencing the success of atrial fibrillation treatment associated with the sick sinus syndrome after pacemaker implantation. METHODS AND RESULTS: In 163 patients with sick sinus syndrome followed up after pacemaker implantation, statistical analysis showed that the recurrence of atrial fibrillation increased 2.8 times and 2.5 times when the left atrium or the right atrium, respectively, were increased by 1 cm (P=0.001). In addition, the recurrence of atrial fibrillation increased 2.5 times when the interventricular septum was thickened (P=0.007). Probability of atrial fibrillation recurrence was 2.73 times higher in the presence of grade II mitral regurgitation as compared to absent or grade I mitral regurgitation (P=0.029). The results of atrial fibrillation treatment did not significantly depend on age, gender, duration of atrial fibrillation symptoms, other cardiac structural changes, and concomitant noncardiac diseases. CONCLUSIONS: In patients with sick sinus syndrome, the effectiveness of atrial fibrillation treatment after pacemaker implantation is influenced by enlargement of the left and the right atria, increased interventricular septum thickness, and grade II mitral regurgitation. Evaluation of echocardiographic data before pacemaker implantation has prognostic value for determining the probability of maintenance of sinus rhythm.


Assuntos
Fibrilação Atrial/etiologia , Marca-Passo Artificial , Síndrome do Nó Sinusal/terapia , Idoso , Antiarrítmicos/uso terapêutico , Anticoagulantes/uso terapêutico , Aspirina/uso terapêutico , Fibrilação Atrial/tratamento farmacológico , Fibrilação Atrial/cirurgia , Ablação por Cateter , Interpretação Estatística de Dados , Ecocardiografia , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência da Valva Mitral/complicações , Inibidores da Agregação Plaquetária/uso terapêutico , Prognóstico , Curva ROC , Recidiva , Fatores de Risco , Síndrome do Nó Sinusal/diagnóstico
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