ABSTRACT
Pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) patients have a more severe COVID-19 course than the general population. Many patients report different persistent symptoms after SARS-CoV-2 infection. The aim of our study is to analyze the prevalence of long COVID-19 symptoms and assess if COVID-19 affects pulmonary hypertension (PH) prognosis. PAH/CTEPH patients who survived COVID-19 for at least 3 months before visiting the PH centers were included in the study. The patients were assessed for symptoms in acute phase of SARS-CoV-2 infection and persisting in follow-up visit, WHO functional class, 6-min walk distance, NT-proBNP concentration. The COMPERA 2.0 model was used to calculate 1-year risk of death due to PH at baseline and at follow-up. Sixty-nine patients-54 (77.3%) with PAH and 15 (21.7%) with CTEPH, 68% women, with a median age of 47.5 years (IQR 37-68)-were enrolled in the study. About 17.1% of patients were hospitalized due to COVID-19 but none in an ICU. At follow-up (median: 155 days after onset of SARS-CoV-2 symptoms), 62% of patients reported at least 1 COVID-19-related symptom and 20% at least 5 symptoms. The most frequently reported symptoms were: fatigue (30%), joint pain (23%), muscle pain (17%), nasal congestion (17%), anosmia (13%), insomnia (13%), and dyspnea (12%). Seventy-two percent of PH patients had a low or intermediate-low risk of 1-year death due to PH at baseline, and 68% after COVID-19 at follow-up. Over 60% of PAH/CTEPH patients who survived COVID-19 suffered from long COVID-19 syndrome, but the calculated 1-year risk of death due to PH did not change significantly after surviving mild or moderate COVID-19.
ABSTRACT
INTRODUCTION: Pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) lead to progressive right heart failure. The mortality rates in PAH and CTEPH patients due to COVID19 are high, and vaccination against COVID19 is recommended in this group. OBJECTIVES: We analyzed the incidence and outcomes of COVID19in the PAH/CTEPH patients for 2 years of the pandemic, as well as the predictors of worse outcomes of COVID19 in this group. PATIENTS AND METHODS: PAH/CTEPH patient data for this observational, cohort study were obtained from 3 pulmonary hypertension centers between March 11, 2020 and March 11, 2022. RESULTS: A total of 364 consecutive patients with PAH/CTEPH (248/122; 232 women [64%]; median [interquartile range] age, 61 years [18-92]) were included in the study. All the patients had advanced pulmonary hypertension at baseline. Eightyfive patients (23%) suffered from COVID19. Seven of them (8%), all of whom were unvaccinated, died of COVID19. The unvaccinated patients suffered from COVID19 more often than the vaccinated ones (46% vs 9%; P <0.001). As many as 31% of the PAH/CTEPH patients with COVID19 needed hospitalization, in 8% of cases in the intensive care unit. Age equal to or above 65 years and severe pulmonary hypertension defined as a World Health Organization functional class 3 or 4 were associated with severe COVID19 in the PAH/CTEPH patients. CONCLUSIONS: The vaccinated PAH/CTEPH patients suffered from COVID19 less frequently than the unvaccinated ones. The mortality rate and hospitalization due to COVID19 were higher in the PAH/CTEPH patients than in the general population. All efforts should be made to convince the PAH/CTEPH patients to vaccinate against COVID19.
Subject(s)
COVID-19 , Hypertension, Pulmonary , Pulmonary Arterial Hypertension , Humans , Female , Middle Aged , Aged , Hypertension, Pulmonary/etiology , SARS-CoV-2 , Cohort Studies , COVID-19/complicationsABSTRACT
We aimed to evaluate the clinical course and impact of the SARS-CoV-2 pandemic on the rate of diagnosis and therapy in the complete Polish population of patients (pts) with pulmonary arterial hypertension (PAH-1134) and CTEPH (570 pts) treated within the National Health Fund program and reported in the national BNP-PL database. Updated records of 1704 BNP-PL pts collected between March and December 2020 were analyzed with regard to incidence, clinical course and mortality associated with COVID-19. Clinical characteristics of the infected pts and COVID-19 decedents were analyzed. The rates of new diagnoses and treatment intensification in this period were studied and collated to the proper intervals of the previous year. The incidence of COVID-19 was 3.8% (n = 65) (PAH, 4.1%; CTEPH, 3.2%). COVID-19-related mortality was 28% (18/65 pts). Those who died were substantially older and had a more advanced functional WHO class and more cardiovascular comorbidities (comorbidity score, 4.0 ± 2.1 vs. 2.7 ± 1.8; p = 0.01). During the pandemic, annualized new diagnoses of PH diminished by 25-30% as compared to 2019. A relevant increase in total mortality was also observed among the PH pts (9.7% vs. 5.9% pre-pandemic, p = 0.006), whereas escalation of specific PAH/CTEPH therapies occurred less frequently (14.7% vs. 21.6% pre-pandemic). The COVID-19 pandemic has affected the diagnosis and treatment of PH by decreasing the number of new diagnoses, escalating therapy and enhancing overall mortality. Pulmonary hypertension is a risk factor for worsened course of COVID-19 and elevated mortality.
Subject(s)
COVID-19 , Hypertension, Pulmonary , COVID-19/epidemiology , Comorbidity , Humans , Hypertension, Pulmonary/epidemiology , Pandemics , SARS-CoV-2ABSTRACT
BACKGROUND: It is unclear whether patients with adult congenital heart disease (ACHD) should be considered as an increased risk population with poor outcomes when suffering from COVID-19. AIMS: This study aimed to collect clinical outcome data and to identify risk factors of a complicated course of COVID-19 among ACHD patients. METHODS: Among all outpatients who came to medical attention via telemedicine or direct physician contact at our institution between September 1, 2020 and March 31, 2021, we included all with a COVID-19 diagnosis. The incidence of COVID-19, a clinical course of the disease, and outcome were determined. RESULTS: One hundred and four (8.7%) out of 1 197 patients who were seen at our outpatient clinic for ACHD patients met the definition of COVID-19. Most of them reported a mild course of COVID-19 (99 [95.5%]). Five patients (4.5%) experienced severe symptoms and needed hospitalization. Two patients (1.9% of all with a confirmed diagnosis, 40% with severe infection) died. In the multivariable analysis, decreased systemic ventricular systolic function and any significant valve stenosis were predictors of a complicated disease course. CONCLUSIONS: Our study confirmed previous results showing that a physiology-based model, rather than an anatomy-based model, better predicted COVID-19 outcomes among ACHD patients, which is of importance for patients and healthcare providers during the COVID-19 pandemic.
Subject(s)
COVID-19 , Heart Defects, Congenital , Adult , COVID-19 Testing , Heart Defects, Congenital/complications , Heart Defects, Congenital/epidemiology , Humans , Pandemics , SARS-CoV-2ABSTRACT
The incidence of COVID-19 infection in patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH) is similar to that in the general population, but the mortality rate is much higher. COVID-19 vaccination is strongly recommended for PAH/CTEPH patients. The aim of our cross-sectional study was to identify reasons why PAH/CTEPH patients refused vaccination against COVID-19. Moreover, we assessed the safety profile of approved COVID-19 vaccines in PAH/CTEPH patients. We examined 261 patients (164 PAH patients and 97CTEPH patients) with a median age of 60 (18-92) years, 62% of which were female. Sixty-one patients (23%) refused to be vaccinated. The main reason for unwillingness to be vaccinated was anxiety about adverse events (AEs, 61%). Age and fear of COVID-19 in the univariate analysis and age ≥60 years in the multivariate regression analysis were factors that impacted willingness to be vaccinated (OR = 2.5; p = 0.005). AEs were reported in 61% of vaccinated patients after the first dose and in 40.5% after the second dose (p = 0.01). The most common reported AEs were pain at the injection site (54.5%), fever (22%), fatigue (21%), myalgia (10.5%), and headache (10%). A lower percentage of AEs was reported in older patients (OR = 0.3; p = 0.001). The COVID-19 vaccines are safe for PAH/CTEPH patients. The results obtained in this study may encourage patients of these rare but severe cardio-pulmonary diseases to get vaccinated against COVID-19.
ABSTRACT
The COVID-19 pandemic has affected the physical and mental health of people around the world. This may be particularly true for patients with life-threatening diseases. We analyzed the level of fear of COVID-19 (FCV-19S), the prevalence of anxiety (HADS-A) and depression (HADS-D) in pulmonary arterial and chronic thromboembolic pulmonary hypertension (PAH and CTEPH) patients during the COVID-19 pandemic. In this multicenter prospective study, 223 patients (63% females, 66% PAH) with age range 18-90 years were included. The fear of COVID-19 was high, at a mean level of 18.9 ± 7.4 points. Anxiety (HADS-A ≥ 8 points) was diagnosed in 32% of all patients, depression (HADS-D ≥ 8 points) in 21%, and anxiety or depression in 38%. FCV-19S was higher in woman and in elderly people (p = 0.02; p = 0.02, respectively). In the multivariate analysis, FCV-19S higher than the median increased the odds ratio of anxiety, but not of depression (R 6.4 (95%CI 2.0-20.0), p = 0.002; OR 1.9 (0.9-3.9), p = 0.06, respectively). History of COVID-19 increased risk of both HADS-A and HADS-D. Patients with PAH and CTEPH, especially woman over 65 years and those who had been infected with COVID-19, may need additional psychological support due to fear of COVID-19, anxiety or depression.
ABSTRACT
Aim: To assess galectin-3 (Gal-3) levels and their relationship with clinical status and right ventricular (RV) performance in adults with RV pressure overload of various mechanisms due to congenital heart disease. Materials & methods: A cross-sectional study was conducted. Patients underwent clinical examination, blood testing and transthoracic echocardiography. Results: The study included 63 patients with congenitally corrected transposition of the great arteries, 41 patients with Eisenmenger syndrome and 20 healthy controls. Gal-3 concentrations were higher in patients compared with controls (7.83 vs 6.11 ng/ml; p = 0.002). Biomarker levels correlated with age, New York Health Association class, N-terminal probrain natriuretic peptide and RV function only in congenitally corrected transposition of the great arteries patients. Conclusion: Gal-3 profile in congenital heart disease patients and pressure-overloaded RV differs according to the cause of pressure overload.
Subject(s)
Galectin 3/blood , Heart Defects, Congenital/blood , Adult , Cross-Sectional Studies , Echocardiography , Female , Heart Defects, Congenital/diagnostic imaging , Heart Ventricles/diagnostic imaging , Heart Ventricles/metabolism , Humans , Male , Middle Aged , Transposition of Great Vessels/blood , Transposition of Great Vessels/diagnostic imagingABSTRACT
The purpose of the study was to evaluate the degree of morning blood pressure surge (MBPS) and its relationship with markers of cardiovascular alterations in untreated middle-aged hypertensives. We studied 241 patients (mean age, 36.6 ± 10.7 years). Subjects with higher sleep-through MBPS (st-MBPS) were older (P = .003), had higher carotid intima-media thickness (cIMT) (P = .05) and lower E/A ratio (P = .01) than those with lower MBPS. Subjects with higher prewakening MBPS (pw-MBPS) had significantly higher deceleration time (P = .01) compared with those with lower pw-MBPS. St-MBPS correlated significantly with age, cIMT values, 24-hour systolic and diastolic BP, and systolic BP night-time fall. The significant correlations between pw-MBPS and cIMT values, deceleration time, 24-hour diastolic BP and systolic BP night-time fall were observed. A relationship between MBPS and cardiovascular alterations was observed both in dippers and nondippers, although in non-dippers, it was less pronounced. The results may imply a possible link between MBPS and markers of cardiovascular alterations in untreated hypertensive subjects.
Subject(s)
Blood Pressure/physiology , Carotid Intima-Media Thickness , Circadian Rhythm/physiology , Essential Hypertension/physiopathology , Sleep/physiology , Adult , Age Factors , Blood Pressure Determination , Carotid Arteries/diagnostic imaging , Echocardiography, Doppler, Pulsed , Female , Humans , Hypertrophy, Left Ventricular/diagnostic imaging , Male , Middle Aged , Retrospective StudiesABSTRACT
We addressed a question if there is a relationship between severity of newly diagnosed obstructive sleep apnea (OSA) and markers of cardiovascular alterations in middle-aged untreated hypertensive patients. In 121 consecutive patients with never-treated essential hypertension (mean age 35.9±10.1 years; 97 men and 24 women) evaluation of office and ambulatory blood pressure (BP) measurements, metabolic syndrome (MS) components and markers of alterations in cardiovascular system including left ventricular structure and function, carotid artery wall intima-media thickness (cIMT) and urinary albumin excretion (UAE) was performed. OSA was classified as mild (apnea/hypopnea index (AHI) 5-15 events h(-1)) or moderate-to-severe (AHI >15 events h(-1)). Mild and moderate-to-severe OSA were diagnosed in 30% and 20% of patients, respectively. No differences in nighttime BP levels and decline between patients with and without OSA were observed. The patients with moderate-to-severe OSA were characterized by higher cIMT (0.74±0.16 vs. 0.60±0.15 mm; P=0.001), UAE (14.5±6.9 vs. 10.0±8.0 mg 24 h(-1); P=0.014), relative wall thickness (0.42±0.05 vs. 0.39±0.05; P=0.023) and by a higher degree of diastolic dysfunction (E'-wave velocity 11.4±3.2 vs. 15.5±3.8 m s(-1); P<0.001) as compared with the patients without OSA. In multivariate analysis, AHI independently of BP and MS components correlated with UAE, relative wall thickness and E'-wave velocity. In the middle-aged never-treated hypertensive patients, moderate-to-severe OSA correlates with markers of cardiovascular alterations independently of BP levels and MS components.
Subject(s)
Cardiovascular System/pathology , Cardiovascular System/physiopathology , Hypertension/complications , Severity of Illness Index , Sleep Apnea, Obstructive/epidemiology , Sleep Apnea, Obstructive/physiopathology , Adult , Albuminuria/epidemiology , Albuminuria/physiopathology , Blood Pressure/physiology , Blood Pressure Monitoring, Ambulatory , Carotid Intima-Media Thickness , Essential Hypertension , Female , Humans , Hypertension/physiopathology , Hypertrophy, Left Ventricular/diagnostic imaging , Hypertrophy, Left Ventricular/epidemiology , Male , Metabolic Syndrome/epidemiology , Metabolic Syndrome/physiopathology , Middle Aged , Multivariate Analysis , Office Visits , Polysomnography , Prevalence , Retrospective StudiesABSTRACT
BACKGROUND: The study's aim was to examine the effect of exercise training on left ventricular diastolic function (LVDF) and whether LVDF could predict an improvement in exercise capacity (EC) in post-myocardial infarction patients. METHODS: Forty-eight males, aged 56.4 +/- 7.2 years, with preserved left ventricular systolic function (LVSF) and mild diastolic dysfunction (the ratio of transmitral early left ventricular filling velocity to early diastolic mitral annulus velocity E/E' > 8 as the average of the septal and lateral annulus velocities), were assigned to either a training group (TG, n = 32) or controls (n = 16). Before, and at the end of the study, all patients underwent a cardiopulmonary test and echocardiography with tissue Doppler imaging (TDI). RESULTS: After a 4.5-month training program, maximal oxygen consumption increased significantly in TG (26.66 +/- 3.88 vs. 28.79 +/- 5.00 mL/kg/min, p < 0.0001). TDI-derived E/E' did not change after the training program. After dividing TG according to septal E/E's > 10 and < 10 and lateral E/E'l > 8 and < 8, exercise capacity improved significantly only in patients with E/E's < 10 and E/E'l < 8. CONCLUSIONS: A 4.5-month training program in post-myocardial infarction patients with preserved LVSF and mild diastolic dysfunction led to improved exercise capacity only in TG. The diastolic function did not change significantly. The improvement in exercise capacity was significantly greater in patients with a better LVDF measured by TDI.
Subject(s)
Exercise Therapy , Exercise Tolerance , Myocardial Infarction/rehabilitation , Ventricular Dysfunction, Left/rehabilitation , Ventricular Function, Left , Blood Pressure , Diastole , Echocardiography, Doppler , Exercise Test , Heart Rate , Humans , Male , Middle Aged , Myocardial Infarction/complications , Myocardial Infarction/diagnosis , Myocardial Infarction/physiopathology , Oxygen Consumption , Recovery of Function , Time Factors , Treatment Outcome , Ventricular Dysfunction, Left/diagnosis , Ventricular Dysfunction, Left/etiology , Ventricular Dysfunction, Left/physiopathologyABSTRACT
BACKGROUND: Percutaneous alcohol septal ablation (ASA) becomes an alternative option of treatment for symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM). The procedure relieves left ventricular outflow tract obstruction, but produces a myocardial scar in patients who already have a substrate for life-threatening ventricular arrhythmia. OBJECTIVES: To examine the effect of ASA on the occurrence of non-sustained ventricular tachycardia (nsVT) on 24 h ambulatory Holter monitoring in HOCM patients. METHODS: Sixty-one consecutive patients (34 males, mean age 48 years), who underwent ASA between 1997 and 2003 were analyzed. Holter recordings were performed in each patient before and after ablation. RESULTS: Follow-up ranged from 60 to 125 months (median 116 months). The mean number of Holter recordings per patient was 2.7 (range 1-11) before and 8.3 (range 2-23) after ASA (p < 0.001). Non-sustained ventricular tachycardia occurred in 14 patients before and 27 patients after ASA (23 vs. 44%, p = 0.01). The percentage of Holter recordings with nsVT before and after ablation was similar (14.5 vs. 15.7%, p = 0.56, respectively). No difference was observed between the number of nsVT per Holter recording before and after ablation (0.21 vs. 0.24%, p = 0.65, respectively). The percentage of patients with nsVT after ASA was comparable to the proportion of patients with nsVT in a control group consisting of 705 patients with hypertrophic cardiomyopathy under follow-up at our institution (44.3 vs. 43.2%, p = 0.91). There was no significant difference in percentage of Holter recordings with nsVT with respect to sex, amount of alcohol used during ASA, peak creatine phosphokinase level, and gradient reduction at rest. CONCLUSION: Alcohol septal ablation affected neither the percentage of Holter recordings with nsVT nor the number of nsVT episodes per Holter recording among HOCM patients.
Subject(s)
Cardiomyopathy, Hypertrophic/therapy , Electrocardiography/drug effects , Ethanol/administration & dosage , Sclerotherapy/methods , Tachycardia, Ventricular/chemically induced , Administration, Topical , Female , Heart Septum/drug effects , Humans , Male , Middle Aged , Risk Assessment , Risk Factors , Sclerosing Solutions/administration & dosage , Tachycardia, Ventricular/diagnosis , Treatment OutcomeABSTRACT
The aim of our study was to evaluate renal resistive index (RI) value in never treated hypertensive patients in relation to ambulatory blood pressure measurement (ABPM) values and early target organ damage. The study included 318 subjects: 223 patients with never treated essential hypertension (mean age 37.1 years) and 95 normotensive healthy subjects (mean age 37.9 years). ABPM, echocardiography and carotid and renal arteries duplex color Doppler examinations were performed. RI values in patients with never treated essential hypertension were no different from the normotensive control group (0.59 +/- 0.05 vs 0.59 +/- 0.05; NS). In the untreated patients RI correlated significantly with 24-h pulse pressure (r=0.234; p<0.01) and ambulatory arterial stiffness index (AASI) values (r=0.274; p<0.001), intima-media thickness (IMT) (r=0.249; p<0.001), E'/A' (rho= -0.279; p<0.001) and relative wall thickness (RWT; r=0.185; p<0.01). In the multivariate stepwise analysis, RI values correlated independently with carotid IMT (beta=0.272; p=0.020) and 24-h AASI values (beta=0.305; p=0.009). In normotensive healthy controls, significant independent correlation between RI and carotid IMT and 24-h AASI values were also found. Our study may indicate limited value of RI in differentiating patients with uncomplicated hypertension with healthy controls. Renal resistive values were independently correlated with carotid IMT and AASI. These may suggest that renal vascular resistance is related to two markers for cardiovascular events both in the hypertensive and normotensive subjects.
Subject(s)
Hypertension/physiopathology , Kidney Function Tests , Kidney/physiopathology , Vascular Resistance , Adult , Anthropometry , Blood Pressure , Blood Pressure Monitoring, Ambulatory , Carotid Arteries/diagnostic imaging , Carotid Arteries/ultrastructure , Circadian Rhythm , Female , Humans , Hypertension/blood , Hypertension/pathology , Kidney/pathology , Lipids/blood , Male , Metabolic Syndrome/epidemiology , Renal Artery/diagnostic imaging , Smoking/epidemiology , Tunica Intima/ultrastructure , Tunica Media/ultrastructure , UltrasonographyABSTRACT
BACKGROUND: In patients with non-obstructive hypertrophic cardiomyopathy (HCM) and preserved left ventricular (LV) systolic function, diastolic dysfunction is one of the major factors contributing to limited exercise capacity. Cardiovascular magnetic resonance (CMR) imaging has become a useful tool in diagnosis, risk stratification and treatment monitoring in patients with HCM. AIM: To assess the relationship between simple CMR parameters of LV diastolic function at rest and exercise capacity measured by means of cardiopulmonary exercise testing on a treadmill in patients with non-obstructive HCM and preserved LV systolic function. METHODS: The study included 13 patients with non-obstructive HCM and preserved LV systolic function who underwent cardiopulmonary exercise testing on a treadmill and CMR within 1 month. Analysed parameters of diastolic function included: LV mass index (LVMI), peak filling rate normalised to LV stroke volume index (PFR/LVSVI) and time from the end-systole to PFR normalised to heart rhythm (TPFR). RESULTS: There was a significant correlation between PFR/LVSVI at rest and peak oxygen uptake (V02peak) (r=0.64, p=0.02). Patients with V02peak below median (<30 ml/kg/min) had a significantly lower PFR/LVSVI than patients with higher V02peak [5.12 m2/s, interquartile range (IQR) 4.16-6.82 vs. 7.93 m2/s, IQR 7.49-8.21 respectively, p=0.035]. LVMI, TPFR were not related to exercise capacity. There was also no correlation between V02peak and age (r=-0.38, p=0.19), LV ejection fraction (r=-0.36, p=0.22) or normalised LV volume indices: LVEDVI (r=0.09, p=0.76), LVESVI (r=0.34, p=0.26). CONCLUSIONS: Assessment of LV diastolic function by peak filling rate normalised to stroke volume index by means of CMR at rest in patients with non-obstructive HCM and preserved LV systolic function is a useful marker of exercise capacity.
Subject(s)
Cardiomyopathy, Hypertrophic/physiopathology , Exercise Test , Hemodynamics , Ventricular Dysfunction, Left/diagnosis , Ventricular Dysfunction, Left/physiopathology , Adult , Aged , Cardiomyopathy, Hypertrophic/complications , Cardiomyopathy, Hypertrophic/diagnosis , Exercise Tolerance , Female , Humans , Magnetic Resonance Angiography , Male , Middle Aged , Oxygen Consumption , Poland , Stroke Volume , Ventricular Dysfunction, Left/complicationsABSTRACT
In patients with infective endocarditis affecting the aortic valve, a secondary involvement of subaortic structures may occur in a mechanism of direct extension or as a result of an infected jet of aortic regurgitation striking the ventricular surfaces of the mitral-aortic intervalvular fibrosa and the anterior mitral leaflet (AML). We present a 29-year-old male with infective endocarditis of the bicuspid aortic valve, who developed a secondary infection of the subaortic tissues complicated by a perforation of the AML. Echocardiographic examination revealed not only systolic, but also diastolic mitral regurgitation.
Subject(s)
Aortic Valve Insufficiency/etiology , Endocarditis/complications , Mitral Valve Insufficiency/etiology , Adult , Aortic Valve Insufficiency/diagnostic imaging , Aortic Valve Insufficiency/physiopathology , Diastole , Echocardiography , Echocardiography, Transesophageal , Endocarditis/diagnostic imaging , Endocarditis/physiopathology , Humans , Male , Mitral Valve Insufficiency/diagnostic imaging , Mitral Valve Insufficiency/physiopathology , SystoleABSTRACT
BACKGROUND: Dilated cardiomyopathy (DCM) is familial in about 20-35% of patients. The most frequently encountered mutations associated with DCM are found in LMNA. AIM: To define the frequency of LMNA mutations in a series of consecutive DCM patients and to evaluate the phenotype of mutation carriers. METHODS: We screened the 12 exons of LMNA in a series of 61 Polish patients with DCM diagnosed angiographically, as well as in two DCM families. RESULTS: Two mutations were detected in 5 mutation carriers (D192G in one proband and Y481Stop in one proband and 3 of his offspring), which represents 3.3% (2/61) of the DCM patients. These mutations were absent from 100 controls. The D192G mutation was found in a 26-year-old patient with mild DCM and heart failure leading to death within two years after onset of symptoms. Mild conduction disease was also present. Ultrastructural analysis of the endomyocardial biopsy showed a striking alteration of nuclear morphology. This finding can explain nuclear fragility and is in agreement with the pathophysiological mechanical hypothesis of LMNA mutations. All four Y481Stop mutation-carriers were affected. Three phenotypes were found: in the proband, cardiac dysrhythmia and pacemaker requirement preceded DCM leading to heart transplantation; the proband's 13-year old daughter had conduction disease (2nd degree A-V block) with subtle skeletal muscle involvement documented by immunofluorescence study; ventricular arrhythmia was detected in the proband's son at the age of 11 and in the proband's daughter at the age of 18. Serum creatine kinase was normal in all mutation carriers.
Subject(s)
Cardiomyopathy, Dilated/genetics , Cardiomyopathy, Dilated/pathology , Lamins/genetics , Mutation, Missense/genetics , Myocardium/ultrastructure , Nuclear Lamina/genetics , Nuclear Lamina/ultrastructure , Adolescent , Adult , Cardiomyopathy, Dilated/epidemiology , Child , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Heart Transplantation/methods , Humans , Lamin Type A , Male , Myocardium/pathology , Pedigree , Predictive Value of Tests , Prevalence , Statistics, NonparametricABSTRACT
A case of a 70 year old female with permanent atrial fibrillation and a history of stroke is presented. Echocardiography showed the presence of an oval mass in the left atrium which suggested thrombus or atrial myxoma. The patient underwent urgent cardiac surgery during which a long thrombus, originating from the left atrial appendage, was successfully removed.
Subject(s)
Coronary Thrombosis/diagnosis , Coronary Thrombosis/surgery , Heart Atria , Heart Neoplasms/diagnosis , Myxoma/diagnosis , Aged , Coronary Thrombosis/diagnostic imaging , Diagnosis, Differential , Female , Heart Neoplasms/diagnostic imaging , Heart Neoplasms/pathology , Humans , Male , Myxoma/diagnostic imaging , Treatment Outcome , UltrasonographySubject(s)
Aortic Valve/surgery , Echocardiography/methods , Endocarditis/complications , Endocarditis/diagnostic imaging , Adolescent , Adult , Aged , Aortic Valve/diagnostic imaging , Cardiac Surgical Procedures , Female , Heart Diseases/complications , Heart Diseases/diagnostic imaging , Humans , Male , Middle Aged , Preoperative Care , Retrospective StudiesABSTRACT
The aim of the study was to determine the type and localisation of complications of aortic valve endocarditis, that have not been recognised on transthoracic (TTE) and/or transesophageal (TEE) echocardiographic study. The echocardiographic findings were retrospectively compared and contrasted with direct surgical inspection in 156 consecutive adults operated on native aortic valve endocarditis in our institute during the last 8 years. We analysed recognition of abscess, pseudoaneurysm, fistula and cusp rupture. Periannular complications were detected at operation in 51 pts, cusp rupture in 97 pts. Sensitivity of TTE in recognition of abscesses was 55%, TEE--60%; pseudoaneurysm--TTE--64%, TEE--100%; fistula--TTE 60%, TEE 100%; cusp rupture--TTE 65%, TEE 81%. Both echocardiographic methods have some inherent limitations while diagnosing complications of aortic valve endocarditis. In particular, these include small abscesses and cusp rupture. Using both modalities in a complementary way seems to offer the best approach in overall definition of the extent of inflammation.