Heart Involvement In Patients Research Articles

Impact of Left and Right Heart Involvement in Patients with Primary Mitral Regurgitation Undergoing Transcatheter Edge-to-Edge Repair

Impact of Left and Right Heart Involvement in Patients with Primary Mitral Regurgitation Undergoing Transcatheter Edge-to-Edge Repair

Cardiovascular Complications of COVID-19: Review of Cardiac Injury Pathophysiology and Clinical Evidence

The coronarovirus disease 2019 (COVID-19) pandemic is still a significant cause of morbidity and mortality, with a rapidly increasing number of infections and deaths worldwide. The possibility of heart involvement in patients with COVID-19 has received great attention since the beginning of the pandemic. In the present review, we summarize the current knowledge on myocardial involvement in COVID-19, provide an overview of the incidence, pathogenetic mechanisms and clinical implications of cardiac injury in this setting. Recent evidence suggests an interplay between COVID-19 and cardiovascular diseases. Cardiac involvement plays a key role in the management and prognostication of patients with SARS-CoV-2 infection. Heart failure is a common state that can be encountered at different stages in the course of COVID-19 patient presentation. New or existing heart failure in the setting of COVID-19 can present a set of unique challenges that can complicate presentation, management andprognosis. It is still unclear whether heart failure in COVID-19 is due to direct effect of SARS-CoV-2 on the myocardium or it is indirectly caused by hypoxia, cytokine release, volume overload, overwhelming critical illness. Careful understandingof hemodynamic and diagnostic implications is essential for appropriate triage and management of these patients. Abnormal cardiac biomarkers are common in COVID-19 and can stem from variety of mechanisms that involve the viral entry itself through angiotensin I converting enzyme 2 receptors, direct cardiac injury, increased thrombotic activity,stress cardiomyopathy etc. Data on the impact of COVID-19 in chronic heart failure patients and its potential to trigger acute heart failure are lacking. The cytokine storm observed in this pandemic can be a culpit in many of the observed mechanisms and presentations of this infection.

Speckle-tracking global longitudinal strain predicts death and cardiovascular events in patients with systemic sclerosis.

Albeit often asymptomatic, heart involvement in systemic sclerosis (SSc) represents a negative prognostic factor, accounting for nearly one-fourth of all deaths. Global longitudinal strain (GLS) is accurate in detecting heart involvement in patients with SSc and no overt cardiac disease and allows early detection and longitudinal monitoring, but its association with clinical endpoints has not been tested so far. The primary outcome was the association between left and right GLS and mortality for all causes. The secondary outcome was the association between left and right GLS and hospitalizations. A prospective longitudinal study enrolling all consecutive patients with SSc without structural heart disease or previous cardiovascular event.A total of 164 patients were enrolled, of whom 19 (11.5%) died during follow-up and 48 (29.3%) were hospitalized. Both left (LV) and right ventricle (RV) GLS at enrolment were independently associated with an increased risk of death for all causes and hospitalizations. Patients with biventricular GLS impairment, respectively, had a 4.2-, 4.9-, and 13.9-fold increased risk of death when compared with patients with only LV, only RV, or no impairment (P < 0.001). The incidence of hospitalization in patients with biventricular GLS impairment was nearly four times higher when compared with patients with only LV or only RV impairment, and nine times higher when compared with normal biventricular GLS (P < 0.001). Biventricular GLS is associated with an increased risk of death and hospitalization in patients with SSc during a median of 3-year follow-up, acting as a reliable and accurate prognostic tool in everyday practice.

Pompe disease in China: clinical and molecular characteristics.

Pompe disease (PD) is a rare, progressive, and autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. The clinical course and molecular mechanism of this disease in China have not been well defined. In this single-center cohort study, we investigated a total of 15 Chinese patients with Pompe disease to better understand the clinical manifestations, echocardiographic imaging and genetic characteristics in this population. The median age of 15 patients at symptom onset was 5.07 months (1-24 months). The median age at diagnosis was 19.53 months (range: 3 to 109 months, n = 15). Average diagnostic delay was 13.46 months. None of the patients had received enzyme replacement therapy (ERT). Fifteen patients died at a median age of 24.80 months due to cardiorespiratory failure (range 3-120 months). Myasthenia symptoms and severe hypertrophic cardiomyopathy were universally present (15/15 = 100%). Global longitudinal strain (GLS) by echocardiography was significantly lower in these patients. After adjusting for gender, body surface area (BSA), left ventricular ejection fraction (LVEF), E/e'ratio, maximum left ventricular wall thickness (MLVWT), left ventricular posterior wall (LVPW), left ventricular outflow tract (LVOT)gradient, GLS was independently correlated with survival time (hazard ratio (HR) = 0.702, 95% confidence Interval (CI): 0.532-0.925, P = 0.012). In our cohort, we identified 4 novel GAA mutation: c.2102T > C (p.L701P), c.2006C > T (p.P669l), c.766T > A (p.Y256N), c.2405G > T (p.G802V). 12 patients were compound heterozygotes, and 4 homozygotes. Our study provides a comprehensive examination of PD clinical course and mutations of the GAA gene for patients in China. We showed clinical utility of echocardiography in quantifying heart involvement in patients with suspected PD. GLS can provide prognostic information for mortality prediction. We reported four novel mutations in the GAA gene for the first time. Our findings may improve early recognition of PD characteristics in Chinese patients.

959 AN UNEXPECTED DIAGNOSIS BY ECHOCARDIOGRAPHY: APPLICATION IN CLINICAL PRACTICE

Abstract A carcinoid tumore is a rare neuroendocrinologic malignancy that commonly origins from enterochromaffin or Kulchitsky cells in the gastrointestinal tract and secretes bioactive molecules in blood. Up to 60% of patients with carcinoid tumors have cardiac involvement, often on the right-sided heart valves (typically the tricuspid valve and the pulmonic valve). A 66 year old woman was admitted to hospital with congestive heart failure, chronic diarrhea and weight loss. A contrast-enhanced computed tomography scan of the liver showed multiple masses (the largest 70 mm×45mm) compatible with metastases. A transthoracic echocardiogram showed dilatation of right sections of the heart with severe tricuspid regurgitation (RV 64 ml/beat, ERO 1 cmq) and mild pulmonary valve stenosis (Peak gradient 13 mmHg). Patient's aortic and mitral valves were normal in structure and function. The EKG revealed low-voltage QRS complexes of all leads, unspecific ST segment changes and sinusal rhythm. The blood tests showed a significant increase in chromogranin A (17670 ng/ml) and enolase; a 24-hour urine collection showed a total output of 5-hydroxyindoleacetic acid eleveted. A biopsy of the liver with immunostaining for chromogranin and synaptophysin were strongly positive and confirmed the diagnosis of metastatic carcinoid syndrome (grade 1, cells CDX2 positive). The echocardiographic findings of carcinoid heart disease is drumstick-like, rigid, and shortened leaflets with a visible regurgitant orifice, causing torrential tricuspid regurgitation. The pulmonic valve presents more frequently valvular stenosis. A combination of biomarkers and cardiac imaging is useful in screening and diagnosis of carcinoid heart involvement in patients with carcinoid syndrome. The management of carcinoid heart disease is hardful and requires a multidisciplinary approach, medical and surgical treatment, for optimized care.

Heart Involvement in Multisystem Inflammatory Syndrome, Associated With COVID-19 in Children: The Retrospective Multicenter Cohort Data.

ObjectivesHeart involvement in multisystem inflammatory syndrome associated with COVID-19 in children (MIS-C) is a new challenging problem, requiring fast and reliable diagnostics and appropriate treatment. The aim of this study is to describe heart involvement in patients with MIS-C.Study DesignIn this retrospective, multicenter cohort study, data of 122 patients were included. All patients met WHO and CDC criteria of MIS-C.ResultsVarious types of heart involvement in MIS-C patients were observed. Patients with solely coronary artery lesions (CAL, n = 10, 8.2%) had typical features of Kawasaki disease: younger age, thrombocytosis and normal ferritin level, without giant CA aneurysms, thrombosis, myocardial infarction, shock, and ICU admission. Patients with solely myocardial involvement (MI, n = 30, 24.6%) had an older onset age, elevated ferritin, LDH, the highest D-dimer, H score, and thrombocytopenia level. The following clinical signs were associated with MI: gastrointestinal and central nervous system disorder, sore throat, swelling face, splenomegaly, shock, and treatment in the intensive care unit required. Patients with a combination of CAL and MI (n = 10, 8.2%) had symptoms similar to patients with solely MI, except for impressive thrombocytopenia. Shock and ICU admission were found in 34.7% of patients without heart involvement (n = 72, 59%). One major criterion [troponin > 32 pg/ml (52 points)] or at least two minor criteria [face swelling (32 points) and D-Dimer > 1,300 ng/ml (29 points)] were associated with MI (>32 points) with a sensitivity of 67.5% and a specificity of 88.9%.ConclusionThe above-suggested criteria can be added to routine diagnostic procedures to confirm MI in MIS-C patients.

Incidence and predictors of arrhythmias in patients with systemic sclerosis and no overt cardiac disease

Abstract Background Cardiac involvement in SSc is frequent, mostly subclinical and represents a negative prognostic factor. Speckle tracking derived measurement global longitudinal strain (GLS) has been able to identify primary heart involvement in patients with SSc and no overt cardiac disease. SSc-related cardiomyopathy, defined as a condition affecting the heart primarily and globally, has been proven to progress over time and seems to be correlated to cardiac arrhythmias. Nonetheless, cardiac arrhythmias represent 6% of the overall causes of death in SSc patients. Purpose The aim of our study was to assess the incidence of cardiac arrhythmias in SSc patients with no overt cardiac disease and to identify potential predictors. Methods Prospective longitudinal study enrolling all consecutive patients with a diagnosis of SSc and no overt cardiac disease or pulmonary hypertension. Echocardiographic parameters and GLS were obtained at baseline and at each follow up. Presence of atrial fibrillation (AF), atrial tachycardia (AT), ventricular ectopic beats &amp;gt;1000/24 h (VEB), supraventricular ectopic beats (SVEB), bundle branch block (BBB) and atrioventricular block (AVB) was assessed through clinical history, ECG and 24-Holter monitoring over time. Results Among 67 consecutive patients with SSc, 11 (16.7%) had at least one episode of AF or AT. Moreover, respectively 12 (17.9%) and 16 (23.9%) had a significant amount of SVEB and VEB at Holter monitoring. Conduction defects were common, with 4 (4.6%) of all patients with grade I AVB, 1 (1.5%) with grade II AVB and 1 (1.5%) with complete heart block. Complete right BBB was seen in 6 (6.9%) of patients. Four patients (4.6%) experienced a sudden cardiac death during follow-up (median 20 months, 1st-3rd quartile 12–24 months). Years from SSc diagnosis (RR 1.10; 95% CI 1.02–1.23; p=0.047) and indexed right atrial volume (iRAV; RR 1.22; 95% CI 1.07–1.39; p=0.004), but not indexed left atrial volume were independently correlated with the diagnosis of AF/AT. The same two variables were independently correlated with any degree of AV block (years from SSc diagnosis: RR 1.11; 95% CI 1.01–1.23; p=0.004; iRAV: RR 1.14; 95% CI 1.02–1.27; p=0.019). Due to the low sample size, we were unable to detect any clinical predictors of sudden cardiac death in our population, however those who died experienced a larger worsening in left ventricle GLS values (4.0±1.6 vs. 0.9±0.4, p=0.056). Conclusions Supraventricular arrhythmias and conduction defects are common in patients with SSc. Time from diagnosis and right atrial volumes are able to predict the incidence of such conditions, supporting the hypothesis that a long-lasting disease and the anatomical remodelling of the right atrium could contribute to the developing of tachy- and bradyarrhythmias in this population. Funding Acknowledgement Type of funding source: None

Особенности эволюции и прогностическое значение поражения сердца у больных системным AL-амилоидозом

Особенности эволюции и прогностическое значение поражения сердца у больных системным AL-амилоидозом

Heart involvement in patients with myotonic dystrophy type 2.

Myotonic dystrophy type 2 (DM2) is a slowly progressive, autosomal-dominant disease. This is a multisystemic disorder that affects the heart, which is one of the main causes of morbidity and mortality in DM2. The aim of the study was to define cardiac impairments in patients with DM2 and its association with sociodemographic and clinical features of patients. This retrospective study comprised 62 adult patients with DM2 hospitalized at the Neurology Clinic, Clinical Center of Serbia from 2013 until 2018, who underwent electrocardiography (ECG) and echocardiography examinations. Hypertension was observed in 42% of DM2 patients. One-fifth of DM2 patients had bradycardia, while other conduction and rhythm impairments were rare. Only one patient had a pacemaker implanted because of the first degree AV block associated with incomplete left bundle branch block. Echocardiography showed diastolic dysfunction of the left ventricle in 44% of patients, while systolic dysfunction was found in only 4%. Cardiomyopathy was observed in 18% of patients, of whom three-fourth had dilated type. Cardiac conduction and rhythm defects are relatively rare in DM2, while diastolic dysfunction is common. This suggests that regular ECG and echocardiography screening is needed in DM2. Adequate therapy should be introduced in patients with DM2 on time to reduce the frequency of heart complications and to prevent premature death.

Global longitudinal strain measured by speckle tracking identifies subclinical heart involvement in patients with systemic sclerosis

Background Systemic sclerosis is characterised by progressive cutaneous and organ fibrosis. Among all organs, a subclinical heart involvement is difficult to detect through conventional imaging. Design We evaluated whether speckle tracking-derived global longitudinal strain could help detect early subclinical systolic dysfunction in systemic sclerosis patients without overt clinical involvement. Methods A case-control, single-centre study on 52 systemic sclerosis patients and 52 age and gender-matched controls. Patients with structural heart disease, heart failure, atrial fibrillation and pulmonary hypertension were excluded. For every patient, standard echocardiographic and speckle tracking-derived variables for the systolic and diastolic function of the left ventricle and right ventricle were acquired. Results Traditional parameters of left and right systolic function did not differ between systemic sclerosis patients and controls (all P = ns). Left and right ventricular global longitudinal strain was significantly impaired in patients with systemic sclerosis when compared to controls (-19.2% vs. -21.1%; P = 0.009 and -18.2% vs. -22.3%; P = 0.012, respectively). Systemic sclerosis patients had a 2.5-fold increased risk of subclinical left ventricular systolic impairment (odds ratio 2.5, 95% confidence interval 1.1-5.5; P = 0.027) and a 3.3-fold increased risk of subclinical right ventricular systolic impairment when compared to controls (odds ratio 3.3, 95% confidence interval 1.4-7.7; P = 0.004). Alterations in the myocardial deformation pattern of systemic sclerosis patients were homogeneous in the right ventricle and eccentric in the left ventricle. Conclusions While traditional echocardiographic parameters are ineffective in detecting subclinical systolic impairment, reduced global longitudinal strain is common in patients with systemic sclerosis and significant for both ventricles. Global longitudinal strain could become a low-cost, non-invasive and reliable tool in order to detect early cardiac involvement in systemic sclerosis patients.

Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation

ObjectivesTo evaluate potential risk factors for stroke or transient ischemic attacks (TIA) and to test the feasibility and efficacy of a Fabry-specific stroke risk score in Fabry disease (FD) patients without atrial fibrillation (AF).BackgroundFD patients often experience cerebrovascular events (stroke/TIA) at young age.Methods159 genetically confirmed FD patients without AF (aged 40 ± 14 years, 42.1% male) were included, and risk factors for stroke/TIA events were determined. All patients were followed up over a median period of 60 (quartiles 35–90) months. The pre-defined primary outcomes included new-onset or recurrent stroke/TIA and all-cause death.ResultsPrior stroke/TIA (HR 19.97, P < .001), angiokeratoma (HR 4.06, P = .010), elevated creatinine (HR 3.74, P = .011), significant left ventricular hypertrophy (HR 4.07, P = .017), and reduced global systolic strain (GLS, HR 5.19, P = .002) remained as independent risk predictors of new-onset or recurrent stroke/TIA in FD patients without AF. A Fabry-specific score was established based on above defined risk factors, proving somehow superior to the CHA2DS2-VASc score in predicting new-onset or recurrent stroke/TIA in this cohort (AUC 0.87 vs. 0.75, P = .199).ConclusionsPrior stroke/TIA, angiokeratoma, renal dysfunction, left ventricular hypertrophy, and global systolic dysfunction are independent risk factors for new-onset or recurrent stroke/TIA in FD patients without AF. It is feasible to predict new or recurrent cerebral events with the Fabry-specific score based on the above defined risk factors. Future studies are warranted to test if FD patients with high risk for new-onset or recurrent stroke/TIA, as defined by the Fabry-specific score (≥ 2 points), might benefit from antithrombotic therapy. Clinical trial registration HEAL-FABRY (evaluation of HEArt invoLvement in patients with FABRY disease, NCT03362164).

49. Minimum Effective Dose of Liver-Targeted Gene Therapy for Pompe Disease Reduced 10-Fold from Prior Estimates

Pompe disease (glycogen storage disease type II; acid maltase deficiency) is a devastating myopathy resulting from acid alpha-glucosidase (GAA) deficiency in striated and smooth muscle. Despite the availability of enzyme replacement therapy (ERT) with recombinant human GAA, many patients have poor outcomes including mortality. ERT has increased survival rates, improved hypotonia, and resolved heart involvement in patients with Pompe disease. However ERT is limited by the short half-life of GAA and the formation of antibody responses that reduced its clinical benefits. The present study compared the efficacy of ERT against an adeno-associated viral (AAV) vector containing a liver-specific promoter, AAV2/8-LSPhGAApA. We hypothesized that liver-specific expression of GAA with AAV2/8-LSPhGAA would suppress the antibody response, continually express GAA, and improve efficacy in comparison with ERT. Preclinical experiments with Pompe disease therapies demonstrated that a very low amount of AAV2/8-LSPhGAApA, 2×1010 vector particles (vp), equivalent to 8×1011 vp/kg body weight, was as effective as long-term ERT. Therefore, we evaluated the biochemical efficacy of 3 lower dosages of AAV2/8-LSPhGAA in GAA knockout (KO) mice, reduced to as low as 2×1010 vp/kg, either alone or in combination with ERT. Biochemical correction in GAA-KO mice was evaluated 8 weeks following vector administration. The minimum effective dose (MED) was at least 10-fold lower than previously estimated, because 8×1010 vp/kg significantly reduced glycogen content in the striated muscle of GAA-KO mice. This MED of AAV2/8-LSPhGAA significantly increased GAA activity in liver (p<0.01), in comparison with untreated GAA-KO mice. Importantly, the MED significantly reduced the glycogen content of heart (p<0.01; Fig. A), and diaphragm (p<0.01; Fig. B), which demonstrated that the glycogen storage in muscle associated with Pompe disease was substantially cross-corrected by GAA secretion from liver accompanied by receptor-mediated uptake in striated muscle. Glycogen clearance, or reduction in comparison with no treatment, was 36% in heart, and 35% in diaphragm. Furthermore, administering ERT by itself had no significant effect on the glycogen content of quadriceps, but ERT following administration of the MED of AAV2/8-LSPhGAA significantly reduced glycogen content of quadriceps (p<0.05; Fig. C) by 38%, indicating that gene therapy with AAV2/8-LSPhGAA made ERT more effective. Vector dose correlated inversely with anti-GAA antibody formation, confirming that immune tolerance to GAA was critical to the efficacy from AAV2/8-LSPhGAApA. In conclusion, the MED for AAV2/8-LSPhGAA has been estimated at least 10-fold lower than previous data suggested, and this dosage would be acceptable as a starting dose for a Phase I clinical trial of gene therapy in Pompe disease.View Large Image | Download PowerPoint Slide

Systemic sclerosis - a multi-purpose use of ultrasound: Editorial comment on: G. Pracoń, M. Płaza, M. Walentowska-Janowicz, I. Sudoł-Szopińska The value of ultrasound in the diagnosis of limited scleroderma - a case report.

Sysyemic sclerosis (SSc) is a chronic connective tissue disease characterized by multi-organ involvement. In its variants, SSc may affect the skin, vessels, the heart, joints and the lungs. As such, it is potentially available for ultrasound examination in a wide field of applications. With the most modern linear high-frequency transducers, it has become feasible to examine the skin in patients with SSc. US makes it possible to measure the thickness of the skin and subcutaneous tissue thereby helping determine the potential skin involvement and its range, and differentiate the localized from diffuse forms of SSc(1). Moreover, the examination of dermal thickness and echogenicity may be helpful in stratifying SSc into the edematous, fibrotic and atrophic phases of skin involvement(2). Elastosonography, a method combining the assessment of ultrasound and elastic properties of the tissue, is also shown to be a promising technique in SSc(3). Raynaud phenomenon and vascular involvement in SSc may be the primary events, even preceding skin affection. The assessment of the vessels is therefore of cardinal significance in SSc. A Doppler analysis of flow in patients suspected of SSc may reveal if Raynaud phenomenon is of primary or secondary character(4). The anatomical features of vessels may also help in the analysis of Raynaud phenomenon(5). Furthermore, as atherosclerosis is more prevalent in patients with SSc, the assessment of carotid plaques with US(6) may induce earlier prophylaxis in this group of patients. This assumption is strengthened by more frequent subclinical heart involvement in patients with SSc compared with healthy controls, as assessed with echocardiography(7), yet another application of US in this disease. In the rheumatologic world, it is obviously the musculoskeletal system that receives the most attention. And it is also like that in rheumatology-related US. Pain in the musculoskeletal system is frequently reported in patients with SSc. Until recently, it has been considered neither to be inflammatory nor leading to erosive joint disease. US supports though that the reason for pain can be detected and visualized. In studies comparing patients with SSc, rheumatoid arthritis (RA) and healthy controls, it has been shown that inflammatory joint changes occur as often as in joints of patients with RA(8). Synovial proliferation, joint effusion and tendinitis were reported, and only Doppler signal and erosive joint disease were more frequent in patients with RA. In a study by Chitale et al., US findings in the hands of patients with SSc were compared with magnetic resonance imaging (MRI)(9). The latter showed both more inflammatory changes than US and bone erosions, which were not detected with US. Tendon involvement was assessed in a study by Elhai et al. and signs of tendinitis were more frequent in patients with SSc in comparison with RA patients(10). Another study by Cuomo et al. also presented characteristic features of tendon and retinaculum involvement showing a hyperechoic pattern(11). In many SSc patients, interstitial pulmonary fibrosis (IPF) is a significant manifestation of the disease and a frequent cause of death. The method of choice for assessment and follow-up of IPF is high-resolution computed tomography (HRCT). The need for frequent assessments and the increasing radiation dose of SSc patients with lung affection makes the use of US, with a potential support of HRCT, particularly attractive in long-term monitoring as a non-radiation method. A significant correlation of findings in US, HRCT score and diffusion capacity of the lungs to carbon monoxide test in a study by Tardella et al.(12), as well as other authors(13, 14), makes the possibility feasible. The elementary lesions in US assessment of patients with IPF are B-lines, i.e. vertical reverberation artifacts, also called comet tails, generated by the reflection of the US beam from thickened subpleural interlobular septa detectable in the lung intercostal spaces. But still, the skin is the most dominant and frequently affected organ in SSc. The authors of the paper in “Journal of Ultrasonography” deal with an aspect of SSc that is seldom investigated(15). Grzegorz Pracon et al. report on characteristic ultrasound features of hydroxyapatite deposits in a finger of a patient with limited SSc. It is an original finding which, when applied in practice, may lead to a quick surgical intervention and alleviation of the patient's symptoms. The present study, seen in relation to the available research results, stresses the need for further and more detailed assessment of patients with SSc in the hope of quicker diagnosis, detecting complications and potential monitoring of the disease and its treatment.

Right Heart Involvement in Patients with Sarcoidosis

The left ventricle (LV) is affected in 20-25% of patients with sarcoidosis and its involvement is associated with morbidity and mortality. However, effects of sarcoidosis on the right ventricle (RV) are not well documented. Our aims were to investigate the prevalence of RV dysfunction in patients with sarcoidosis and determine whether it is predominantly associated with direct cardiac involvement, severity of lung disease, or pulmonary hypertension (PH). We identified 50 patients with biopsy-proven extra-cardiac sarcoidosis and preserved LV function, who underwent echocardiography, pulmonary function (PF) testing, and cardiovascular magnetic resonance. RV function was quantified by free wall longitudinal strain. Tricuspid valve Doppler and estimated right atrial pressure were used to estimate systolic pulmonary artery pressure. Myocardial late gadolinium enhancement was considered diagnostic for cardiac sarcoidosis and assumed to involve both ventricles. Of the 50 patients, 28 (56%) had RV dysfunction, 4 with poorly defined PF status. Of the remaining 24 patients, 16 (67%) had lung disease, 8 (33%) had PH, and 10 (42%) had LV involvement. Ten patients had greater than one of these findings, and 4 had all 3. In contrast, in 4/24 patients (17%), RV dysfunction could not be explained by these mechanisms, despite severely reduced RV strain. In conclusion, RV dysfunction is common in patients with sarcoidosis and is usually associated with either direct LV involvement, lung disease, or PH, but may occur in the absence of these mechanisms, suggesting the possibility of isolated RV involvement and underscoring the need for imaging protocols that would include RV strain analysis.

0224: Cardiac involvement in glycogen storage disease type III

Glycogen storage disease type III (GSD III) is an autosomal recessive disease, due to deficiency of glycogen debranching enzyme (GDE), a key enzyme involved in glycogen degradation. Clinical presentation includes hepatomegaly, myopathy, hypoglycemia and cardiomyopathy. The cardiac natural history of patients with GSD III and its relationship with genetic abnormalities is not well known. We performed a longitudinal study in order to describe the natural history of heart involvement in patients with glycogen GSD III. 47 patients were included our study (16 male/31 female). Mean age was 25.7 years ±15.4. All patients were in sinus rhythm expect one patient (atrial fibrillation). 9 patients/ 47 disclosed abnormal repolarization. Electrical left ventricular hypertrophy was found in 22 patients /47. Heart failure was found in 10 patients/47 and 2 patients/47 disclosed a left ventricular dysfunction. Hypertrophic cardiomyopathy was found in 23 patients /47; and 4 patients/47 disclosed obstructive hypertrophic cardiomyopathy. Patients with hypertrophic cardiomyopathy depicted 2 codon-stops (p 0.03). In conclusion, hypertrophic cardiomyopathy is frequent in patients with GSD III.

0460: Right heart involvement in patients with laminopathies

Laminopathies are rare genetic diseases, with various clinical manifestations. Cardiac involvement may include conduction system disease, supraventricular and ventricular arrhythmias, and dilated cardiomyopathy. In other cardiac diseases, right ventricular dysfunction has been associated with an impaired prognosis. To study the prevalence of right ventricular involvement in laminopathies and its influence on patient outcome. We retrospectively included 138 patients (age=37 [25-49], female=58%) with LMNA gene mutations. At baseline, conduction system disease was present in 36% of patients, supraventricular arrhythmias in 25%, non-sustained and sustained ventricular tachyarrhythmias (VT) in 7 and 6%, left ventricular dysfunction in 42%. The association of right ventricular systolic dysfunction and clinical signs of right heart failure was observed in 18 patients (13%) including 9 who presented with isolated right ventricular without left ventricular systolic dysfunction. Over a 13.5 median follow-up duration, 47 patients (34%) developed major cardiac adverse events, including 23 with end-stage heart failure, 28 with sustained VT, and 26 with 2 nd degree Mobitz II or 3 rd degree AV blocks. Right ventricular involvement was significantly associated with truncating mutations (44% vs. 22%, p=0.04), higher global mortality (44% vs. 17%, p<0.001), end-stage heart failure (56% vs. 11%, p<0.001), sustained ventricular tachycardia (56% vs. 17%, p<0.001), supraventricular tachyarrhythmias (94% vs. 49%, p<0.001), and sinus node dysfunction (33% vs. 7%, p<0.001). Patients with laminopathies are at risk for right ventricular dysfunction, which may be present without any left ventricular systolic dys-function and frequently leads to end-stage heart failure.

FRI0492 Polymyositis and Dermatomyositis: the Heart of the Matter

BackgroundThe myocardium involvement in patients with inflammatory myopathy constitutes one of the main causes of mortality. The early identification of these patients is crucial to improve the prognosis of the...

FRI0394 Subclinical heart involvement in patients with systemic sclerosis: a controlled study

BackgroundThe pathophysiological hallmarks of systemic sclerosis (SSc), i.e. functional and morphological vascular alterations, systemic inflammation and aberrant collagen deposition may affect the cardiovascular system and produce an array of clinical...

Heart involvement in patients with systemic sclerosis is mimicked by Fra-2 transgenic mice

IntoductionSystemic sclerosis (SSc) is a systemic autoimmune disease with vascular and fibrotic components. SSc-related cardiomyopathy is increasingly recognised as a major cause of death. The pathogenesis of SSc-related cardiomyopathy is...

The Relationship of Trauma Severity and Mortality with Cardiac Enzymes and Cytokines at Multiple Trauma Patients

In this study, we aimed to determine the effects of trauma severity on cardiac involvement through evaluating the trauma severity score together with diagnostic tests in multiple trauma patients. A trauma score was determined using various trauma severity scales. After obtaining the approval of the ethics committee of the faculty, this prospective study was performed through evaluating 100 multiple trauma patients, aged over 15 years, who applied to our Emergency Department (ED). After determining the trauma severity score using instruments such as the Injury Severity Score (ISS), Glasgow Coma Scale (GCS), and Revised Trauma Score (RTS), the cardiac condition was evaluated using biochemical and radiological diagnostic tests. During the study period, 100 patients were evaluated (78 male, 22 female; mean age: 33.2±15.4; range 15 to 70 years). It was determined that 92 (92%) were blunt trauma cases, and 77 (77%) of them were due to traffic accidents. The majority of cases showed electrocardiogram (ECG) abnormalities (63%) and sinus tachycardia (36%). Abnormal echocardiogram (ECHO) findings, mostly accompanied by ventricular defects (n=24), were determined in 31 of the cases. Nineteen cases with high trauma severity score resulted in death, and 14 of all deaths were secondary to traffic accidents. Trauma scores were found to show a significant difference between the two groups. The ISS trauma scale was determined to be the most effective in terms of indicating heart involvement in patients with multiple traumas. Close follow-up and cardiac monitoring should be applied to patients with high trauma severity scores considering possible cardiac rhythm changes and hemodynamic disturbances due to cardiac involvement.