Signs Of Left Ventricular Hypertrophy Research Articles

A LONG QT SYNDROME WITHOUT MANIFESTATION

Abstract A 66–year–old Caucasian woman presented for outpatient evaluation due to elevated blood pressure levels at home (approximately 220/120 mmHg) and a significant family history of long QT syndrome. The index case in the family appeared to be her sister, investigated following an ECG showing markedly prolonged QT interval and a family history of sudden cardiac death. The patient underwent genetic analysis, revealing a positive mutation in KCNQ1. She was currently on treatment with Levotiroxina for recently discovered hypothyroidism.The ECG showed sinus rhythm with a heart rate of 85 bpm, signs of left ventricular hypertrophy, particularly Sokolow (SV1 + RV6 70 mm) and Peguero Lo Presti (SD + SV4 50 mm). The QTc interval was 515 ms (Bazett). Echocardiography revealed severe left ventricular hypertrophy (SIVd 14 mm; PWd 12 mm; LVMi 128 g/m2; RWT 0.5) with normal overall systolic function (EF 60%). No significant valvular pathologies were observed, and the right ventricle appeared normal in size and function.The hypertrophy was attributed to uncontrolled severe arterial hypertension. However, the identification of a prolonged QT interval in a patient with a strong family component (Schwartz score 4, high probability) led to genetic testing, confirming a mutation in KCNQ1. As the patient was asymptomatic with a low risk of major arrhythmias over the next 5 years (1–2–3–LQTS–risk score 2.77%), she entered follow–up and received beta–blocker therapy, specifically nadolol, combined with other antihypertensive medications.This clinical case describes an entire family with LQTS1 (type 1) positive for KCNQ1 mutation, exhibiting phenotypic manifestations distinct from those reported in the literature. Notably, there was a prevalence in females, and the condition was incidentally discovered during a routine checkup conducted for unrelated reasons, without any history of major arrhythmias.Long QT syndrome (LQTS) is characterized by a prolonged QT interval, predisposing individuals to life–threatening arrhythmias leading to syncope and sudden death. Mutations in genes encoding ion channels account for 75% of LQTS cases. LQTS1, associated with a "loss–of–function" mutation in the KCNQ1 gene, represents one of the three genetic subtypes. LQTS1 typically manifests with arrhythmias in childhood, with a male predominance. Adrenergic triggers are crucial precipitants for arrhythmic events

Novel Leptin-Cardiac TRH pathway responsible for the cardiac alterations in the Hyperleptinemic obesity.

The association between hypertension andobesity-induced cardiac damage is usually accepted.However, no studies have been focused on cardiac alterations in obesity, independently of blood pressure increase. It iswell known that Cardiac TRH induces Left Ventricular Hypertrophy (LVH) and fibrosis, and its inhibition prevents the development ofhypertrophy. Also, it has been described that the adiponectin leptin induces TRH expression. Thus, we hypothesized that in obesity, the increase in TRH induced by hyperleptinemia is responsible for LVH, until now mostly attributed to pressure load. We studied obese Agouti mice suffering from hypertension with hyperleptinemia and found a significant LVH development with increased TRH gene expression. Consequently, we found higher fibrotic (collagens and TGF-β) and hypertrophic markers (BNP and β-MHC) expressionvs lean black controls. As pressure could explain these results, we treated obese mice with diuretic (hydrochlorothiazide 20mg/kg/day) since weaning. Diuretic treatment was successful as the diuretic group was normotensive in contrast to control obese mice. Nevertheless, both groups showed LVH development, higher cardiac precursor TRH gene and peptide expressions and elevated fibrotic and hypertrophic markers expression,pointing out that obesity-induced LVH is not due to hypertension. In addition, we performed Cardiac TRH inhibition by specific siRNA injection compared to control siRNA treatment and evaluated cardiac damage. As expected, expressions and protein increase in hypertrophic and fibrotic markers observed in the AG mouse with the native cTRH system were not seen in the AG mouse with the cTRH silencing. Indeed, the AG + TRH-siRNA group showed hypertrophicmarkers expression and fibrosis measurements similar to the lean BL mice. On the whole, these results point out that the novel Leptin-Cardiac TRH pathway is responsible for the cardiac alterations present in hyperleptinemic obesity, independent of blood pressure, and cTRH long-term silencing since early stages totally preventLVH development and cardiac fibrosis.

Different degrees of anterior displacement of QRS complex

Electrocardiogram of a patient affected by hypertrophic cardiomyopathy showed normal PR and QRS intervals and signs of left ventricular hypertrophy. In leads I,V5 and V6 the initial q waves were absent. A subsequent electrocardiogram revealed the appearance of prominent anterior QRS forces expressed by a change from rS to R pattern in leads V2 and V3 with a tall R wave in V2. PR and QRS intervals and QRS axis remained substantially unchanged. Other electrocardiograms showed day-to-day variations of the anterior displacement of QRS complex. The different degrees of anterior displacement appear to be an expression of an underlying left septal fascicular block, but a diagnosis cannot be made with certainty.

Effect of sacubitril/valsartan on the hypertensive heart in continuous light-induced and lactacystin-induced pre-hypertension: Interactions with the renin-angiotensin-aldosterone system

This study investigated whether sacubitril/valsartan or valsartan are able to prevent left ventricular (LV) fibrotic remodelling and dysfunction in two experimental models of pre-hypertension induced by continuous light (24 hours/day) exposure or by chronic lactacystin treatment, and how this potential protection interferes with the renin-angiotensin-aldosterone system (RAAS). Nine groups of three-month-old male Wistar rats were treated for six weeks as follows: untreated controls (C), sacubitril/valsartan (ARNI), valsartan (Val), continuous light (24), continuous light plus sacubitril/valsartan (24+ARNI) or valsartan (24+Val), lactacystin (Lact), lactacystin plus sacubitil/valsartan (Lact+ARNI) or plus valsartan (Lact+Val). Both the 24 and Lact groups developed a mild but significant systolic blood pressure (SBP) increase, LV hypertrophy and fibrosis, as well as LV systolic and diastolic dysfunction. Yet, no changes in serum renin-angiotensin were observed either in the 24 or Lact groups, though aldosterone was increased in the Lact group compared to the controls. In both models, sacubitril/valsartan and valsartan reduced elevated SBP, LV hypertrophy and fibrosis and attenuated LV systolic and diastolic dysfunction. Sacubitril/valsartan and valsartan increased the serum levels of angiotensin (Ang) II, Ang III, Ang IV, Ang 1–5, Ang 1–7 in the 24 and Lact groups and reduced aldosterone in the Lact group. We conclude that both continuous light exposure and lactacystin treatment induced normal-to-low serum renin-angiotensin models of pre-hypertension, whereas aldosterone was increased in lactacystin-induced pre-hypertension. The protection by ARNI or valsartan in the hypertensive heart in either model was related to the Ang II blockade and the protective Ang 1–7, while in lactacystin-induced pre-hypertension this protection seems to be additionally related to the reduced aldosterone level.

Dynamics of Right Ventricle Pressure During Stress Echocardiography in Patients with Heart Failure with Preserved Ejection Fraction

Shortness of breath during physical exertion is a non-specific symptom that can hide such potentially dangerous diseases as structural or functional bronchopulmonary, coronary heart disease, structural cardiac disease, but the frequent cause is left ventricle diastolic dysfunction due to its significant hypertrophy. Pathogenetic mechanisms leading to this symptom require detailed study for the possibility of a comprehensive approach in the treatment of such patients with the aim of maximally improving their prognosis and quality of life. Objective — evaluate changes in right ventricle systolic pressure during stress echocardiography in patients with LV myocardial hypertrophy and clinical manifestations of heart failure, search for other mechanisms leading to clinical symptoms. Materials and methods. The study included 49 patients with shortness of breath during physical exertion, who underwent further diagnostic examination after exclusion of coronary stenotic lesions by invasive coronary and ventricular angiography. Patients were excluded from bronchopulmonary pathology using spirometry and chest radiography, structural heart pathology using echocardiography, microvascular angina using echocardiography with intravenous dipyridamole infusion, and the change in systolic pressure in the right ventricle was investigated using echocardiography during a physical exercise test. Results and discussion. There were no cases of infiltrative lung changes, signs of emphysema, or other manifestations of significant pathology according to X-ray data. Spirometry also showed the absence of significant functional abnormalities. Echocardiography revealed significant hypertrophy of LV myocar­dium (thickness of IVS — on average (14.1 ± 0.5) mm, posterior wall thickness — on average (13.5 ± 0.3) mm) with the presence of LV diastolic dysfunction and echocardiographic signs of increased end-diastolic pressure in the LV, which was confirmed invasively during coronary and ventricular angiography. In 9 (18.4 %) cases, heart wall thickening was due to hypertrophic cardiomyopathy according to cardiac MRI, these patients had LV outflow tract obstruction and mild pulmonary hypertension at rest. Conducting strain imaging showed the presence of signs of myocardial ischemia (segmental contractility disorder) with varying degrees of severity (from 1 to 5 segments), which spread to the IVS, the apex of the heart and, less often, to the anterior wall of the LV. All patients experienced an increase in pulmonary artery systolic pressure during exercise, on average, from (37.4 ± 2.1) to (47.1 ± 1.6) mm Hg. Conclusions. The pathogenic mechanism underlying shortness of breath in patients with LV myocardial hypertrophy involves transient pulmonary hypertension occurring during exercise due to left ventricular diastolic dysfunction. Another contributing factor is the development of myocardial ischemia during physical exertion, which, in the absence of coronary stenosis and microvascular angina, is attributed to inadequate supply of coronary blood flow volume velocity relative to the significant left ventricular hypertrophy.

In patients with atrial cardiomyopathy long-lasting atrial fibrillation is associated with unfavorable structural changes in right chambers and worse outcome

Abstract Background The main factor responsible for atrial cardiomyopathy (ACM) is atrial fibrillation (AF). It is known that AF causes remodeling of the left atrium but its effects on the right heart chambers and mortality are not well studied. Purpose To assess the echocardiographic characteristics of patients with atrial cardiomyopathy with long-standing and paroxysmal AF and their impact on survival. Methods From 624 consecutive patients with AF only 173 met the inclusion criteria for atrial cardiomyopathy, defined as severely dilated left atrium with indexed left atrial volume (LAVI) >48 ml/m2, preserved left ventricular systolic function, without significant valvular disease or left ventricular hypertrophy. The mean age of the studied population was 73,7 ± 9,5 years, 59% women. The patients were divided into two groups according to the presence of persistent or permanent AF (long-standing AF) - Group 1 (n = 87) or paroxysmal AF - Group 2 (n = 86). All patients underwent a comprehensive echocardiography with volumetric and speckle tracking analysis on enrollment and were followed for cardiovascular outcomes, including mortality 24 months. Results The group with long-standing AF had more dilated right atrium (indexed right atrial volume- RAVI 41.9 ± 24.4 vs. 33 ± 13.5 ml/m2; P=0.003), lower reservoir strain of the right atrium (13.1% ± 8.6 vs. 19.7% ± 10.6; P<0.001) and lower right ventricular free wall strain (18.1% ±7.3 vs. 21.2% ± 7.1; P=0.006). Over a median follow up of 18 months (7-29) 16 patients (18%) from Group 1 died compared to 6 patients (7%) from Group 2 (P=0.022). The presence of more than mild tricuspid regurgitation (OR 4.53; CI: 2.37-8.67; P<0.001), heart failure (OR 3.44; 95% CI: 1.83-6.48; P<0.001), and long-standing AF (OR 3.00, 95% CI: 1.41-8.09; P=0.028) were associated with worse mid-term survival. Conclusion Patients with ACM and long-standing AF have more advanced structural changes of the right atrium and the right ventricle and worse prognosis. The presence of more than mild tricuspid regurgitation, heart failure, and long-standing AF are predictors of poor outcome.

Pheochromocytoma: Intricate Cardiovascular Manifestations

Abstract We present the case of a 60-year-old female patient, dyslipidemic, obese, diabetic and hypertensive, with a history of resected right adrenal pheochromocytoma (1999 - no subsequent surgical or endocrinological re-evaluation), presenting for increased blood pressure values and the recurrence of symptoms (headaches, palpitations, sweating), with progressive accentuation in the last months. The patient associates pain in the right costovertebral angle and weight loss. The clinical examination revealed facial erythrosis, excessive sweating, tachycardic heart sounds, increased blood pressure and orthostatic hypotension. Electrocardiography reveals sinus tachycardia, signs of left ventricular hypertrophy, with repolarization abnormalities, morphological aspect confirmed by the transthoracic echocardiography. An ultrasound of the abdomen and pelvis ultrasound objectified a large tumor formation at the level of the right adrenal gland and a liver nodule. In the context of the symptoms, the suspicion of recurrent pheochromocytoma was raised, confirmed biochemically by the increase in urinary normetanephrines and through imagistic methods (CT scan of the abdomen and pelvis), the patient having an indication for curative surgical treatment. After completing the preoperative assessment (ECG Holter monitor, ABPM), during the hospitalization period, the antihypertensive regimen was adjusted by combining 4 antihypertensive drugs, episodes of orthostatic hypotension being managed by administering glucocorticoids and colloidal solutions for volume repletion. The patient was referred to the general surgery clinic for resection of the tumor, following the antihypertensive preparation protocol. Although the post-procedural evolution was favorable, the patient presents a high risk of tumor recurrence, requiring annual evaluation for a period of 10 years. Also, due to the association of cardiovascular risk factors and target organ damage, the patient requires periodic cardiological evaluation.

Polymorphism of the coding gene LGALS-3 rs2274273 as an endogenous factor of the predictive effectiveness of the plasma concentration of galectin-3 in relation to the risk of development of chf on the background of eh in women

Objective. The purpose of the study is to improve the early diagnosis of the development of left ventricular myocardial hypertrophy (LVH) and the formation of prerequisites for chronic heart failure (CHF) in women with essential hypertension, residents of the Podillya region of Ukraine by determining the plasma concentration of galectin-3 in carriers of different polymorphic variants of the LGALS-3 (rs2274273) gene. Material and methods. 180 women of postmenopausal age, average age of 57.34±0.45, residents of the Podillya region of Ukraine, who lived in this territory in the third generation, were examined. The control group consisted of 67 women, average age of 56.43±0.64 years, without signs of cardiovascular pathology and signs of left ventricular hypertrophy (LVH) for other reasons were detected. The main group included 113 women with essential hypertension, of which 62 had essential hypertension with LVH without heart failure (EH II), 51 had essential hypertension with chronic heart failure stage C according to the ESH/ESC 2023 classification. General clinical examination, enzyme immunoassay method for determining the level of galectin-3 in blood plasma, genotyping of the LGALS3 (rs2274273) gene using polymerase chain reaction, and ultrasound of the heart were performed. The statistical processing of the obtained results was carried out using the package of statistical programs SPSS, STATISTICA v. 10.0. Mathematical methods were used: multiple regression stepwise analysis of proportional risks with 95% CI confidence interval, Fisher's linear discriminant analysis with the creation of a mathematical prognostic model, and cluster analysis. Compliance of the frequency distribution of genotypes in the studied populations to the Hardy-Weinberg equilibrium was checked using the MedCalc Software Ltd. Odds ratio calculator. https://www.medcalc.org/calc/odds_ratio.php and calculated the odds ratio (OR) of developing left ventricular myocardial hypertrophy (LVH) and chronic heart failure (CHF).Results. In patients with EH and CHF, carrying the A allele of the LGALS-3 (rs2274273) gene was associated with a more severe degree of diastolic dysfunction and reduced LVEF compared with carriers of the GG genotype, and higher plasma levels of galectin-3 were also recorded, which were associated with a more significant deterioration structural and functional indicators of the myocardium. With the help of cluster analysis, it was found that carriers of the A allele of the LGALS-3 (rs2274273) gene are more likely to be included in unfavorable cluster 1. In contrast, in cluster 2, with a more favorable course of the disease, carriers of the GG genotype and carriers of the A allele occur with almost the same frequency. Conclusions. In postmenopausal women, residents of the Podillya region of Ukraine, carrying the A allele of the LGALS-3 (rs2274273) gene is associated with a more severe course of EH with the development of LVH, a higher concentration of galectin-3 in the blood plasma, and the formation of CHF with reduced LVEF when compared with carriers of the genotype GG.

A machine learning-based score for precise echocardiographic assessment of cardiac remodelling in hypertensive young adults.

Accurate staging of hypertension-related cardiac changes, before the development of significant left ventricular hypertrophy, could help guide early prevention advice. We evaluated whether a novel semi-supervised machine learning approach could generate a clinically meaningful summary score of cardiac remodelling in hypertension. A contrastive trajectories inference approach was applied to data collected from three UK studies of young adults. Low-dimensional variance was identified in 66 echocardiography variables from participants with hypertension (systolic ≥160 mmHg) relative to a normotensive group (systolic < 120 mmHg) using a contrasted principal component analysis. A minimum spanning tree was constructed to derive a normalized score for each individual reflecting extent of cardiac remodelling between zero (health) and one (disease). Model stability and clinical interpretability were evaluated as well as modifiability in response to a 16-week exercise intervention. A total of 411 young adults (29 ± 6 years) were included in the analysis, and, after contrastive dimensionality reduction, 21 variables characterized >80% of data variance. Repeated scores for an individual in cross-validation were stable (root mean squared deviation = 0.1 ± 0.002) with good differentiation of normotensive and hypertensive individuals (area under the receiver operating characteristics 0.98). The derived score followed expected hypertension-related patterns in individual cardiac parameters at baseline and reduced after exercise, proportional to intervention compliance (P = 0.04) and improvement in ventilatory threshold (P = 0.01). A quantitative score that summarizes hypertension-related cardiac remodelling in young adults can be generated from a computational model. This score might allow more personalized early prevention advice, but further evaluation of clinical applicability is required.

Retrospective analysis of cases of transient global amnesia admitted to the hospital

Introduction. Transient global amnesia (TGA) is a clinical syndrome, the main clinical manifestation of which is sudden development of anterograde and retrograde amnesia, lasting not more than 24 hours, without other general cerebral or focal neurological symptoms.The aim of the work was to reveal the peculiarities of clinical manifestations and data of additional methods of examination of patients with TGA syndrome referred to the primary vascular department with suspected acute cerebral circulation disorder (ACCD).Materials and methods. The study included 16 patients with transient global amnesia diagnosed according to the diagnostic criteria of Hodges and Warlow (1990). All patients underwent a detailed neurological and general medical examination. Electrocardiography, multispiral computer tomography of the head, echocardiography, ultrasound duplex scanning of the main arteries of the head and neck, laboratory examination (lipid spectrum) were performed. The Brief Mental Status Rating Scale was used to assess cognitive impairment.Results. The majority of patients had elevated blood pressure (BP). The leading trigger factor of transient global amnesia was stress. The duration of amnesia ranged from 1.5 to 5 hours. There was a significant impairment of short-term memory. On the first and second days of hospitalization, 50% of patients had normal cognitive functions on a brief mental status assessment scale, but by the 5th−7th day only 12.5 % of patients had abnormalities. Ultrasound markers of atherosclerosis in the form of intima-media complex thickening and dyslipidemia were found in 6 patients. Signs of left ventricular hypertrophy were found in the majority of patients. Discussion TGA is a relatively rare condition and an understudied syndrome. Due to its suddenness of clinical manifestation, TGA requires differential diagnostics with acute cerebral circulatory disorders, epilepsy, acute hypertensive encephalopathy and psychogenic amnesia.Conclusion. The clinical features of TGA identified in the patients were a history of arterial hypertension, elevated BP during an episode of TGA. The leading provoking factor was stress. TGA episode occurred predominantly in the first half of the day. The majority of patients had complaints of headache on admission. Cognitive disorders detected in patients on the first and second days of the disease quickly regressed to normal. Left ventricular hypertrophy was detected in most patients.

Modeling the clinical profile of patients with hypertension and atrial fibrillation by serum NTpro-BNP levels

Background. Hypertension and atrial fibrillation are a fairly common combination of heart pathology that occurs in the daily practice of a cardiologist. Associations of clinical laboratory and instrumental indicators with the levels of various biomarkers, in particular serum N-terminal fragment of brain natriuretic propeptide (NT-proBNP), are interesting and promising for scientific research and practical application. The aim of the study was to simulate the clinical profiles of patients with hypertension and atrial fibrillation depending on the serum levels of NTpro-BNP. Materials &amp; Methods. 89 patients with stage II hypertension and various clinical forms of atrial fibrillation were included in the study. All patients underwent a general clinical examination, additional determination of NT-proBNP serum levels, and assessment of quality of life according to the Minnesota Living with Heart Failure Questionnaire (MLHFQ) for 2–3 days of hospital stay at against the background of selection of optimal therapy. Sequential statistical processing of the obtained data using Spearman’s rank correlation analysis and multiple linear regression made it possible to create two clinical profiles of patients. Results &amp; conclusions. Thus, with a relatively high serum level of NTpro-BNP (≥810 ng/l), the following will be characteristic: hypertensive history &gt;12 years; the presence of signs of left ventricular hypertrophy on the ECG according to the Sokolov-Lyon criteria; increase in the right atrium &gt;36 mm and systolic pressure in the pulmonary artery &gt;38 mm Hg according to Echocardiography; an increase in the average daily heart rate &gt;110 per 1 min with Holter ECG monitoring; a decrease in the glomerular filtration rate &lt;56 ml/min/1.73m2 and an increase in the total MLHFQ score &gt;27. The dominant markers of a relatively high level of NTpro-BNP were a decrease in quality of life, instrumental signs of hemodynamic overload of the right heart and clinically significant cardiorenal disorders. With a relatively low serum level of NTpro-BNP (≤220 ng/l), the following will be characteristic: hypertensive history anamnesis &lt;8 years; lack of signs of the left ventricle hypertrophy on the ECG according to the Sokolov-Lyon criteria; the size of the right atrium &lt;34 mm and/or the value of systolic pressure in the pulmonary artery &lt;33 mm Hg according to Echocardiography; average daily heart rate with Holter ECG monitoring &lt;92 per 1 minute; glomerular filtration rate &gt;68 ml/min/1.73m2 and the total MLHFQ score &lt;21. The dominant markers of a relatively low level of NTpro-BNP were the absence of signs of left ventricular hypertrophy on the ECG and a balanced state of sympatho-adrenal activity by the nature of circadian regulation of heart rate. Keywords: atrial fibrillation; N-terminal fragment of brain natriuretic propeptide; clinical profile of patients.

Bicuspid aortic valve with associated aortopathy, significant left ventricular hypertrophy or concomitant hypertrophic cardiomyopathy: A diagnostic and therapeutic challenge.

Due to its prevalence of 0.5% to 2% in the general population, with a 75% predominance among men, bicuspid aortic valve is the most common congenital heart defect. It is frequently accompanied by other cardiac congenital anomalies, and clinical presentation can vary significantly, with stenosis being the most common manifestation, often resulting in mild to moderate concentric hypertrophy of the left ventricle. Echocardiography is the primary diagnostic modality utilized for establishing the diagnosis, and it is often the sole diagnostic tool relied upon by clinicians. However, due to the heterogeneous clinical presentation and possible associated anomalies (which are often overlooked in clinical practice), it is necessary to employ various diagnostic methods and persist in finding the accurate diagnosis if multiple inconsistencies exist. By employing this approach, we can effectively manage these patients and provide them with appropriate treatment. Through a clinical case from our practice, we provide an overview of the literature on bicuspid aortic valve with aortophaty and the possible association with hypertrophic cardiomyopathy, diagnostic methods, and treatment options. This review article highlights the critical significance of achieving an accurate diagnosis in patients with bicuspid aortic valve and significant left ventricular hypertrophy. It is crucial to exclude other possible causes of left ventricular outflow tract obstruction, such as sub- or supra-aortic obstructions, and hypertrophic cardiomyopathy.

P53 DOUBLE OUTLET RIGHT VENTRICLE IN PATIENT WITH XP11.23 DUPLICATION AND SYNDROMIC PHENOTYPE: BROADENING OF THE CLINICAL SPECTRUM

Abstract DORV accounts for 2–3% of congenital heart disease (prevalence of 1/10,000). It is a cono–truncal anomaly with variable clinic. In 25–42.5% of cases there are chromosomal anomalies such as trisomy 13, 18, 22q11 microdeletion and possible associated anomalies such as facial and skeletal dysmorphisms, brain anomalies and renal agenesis. duplication Xp11.22–p11.23 was described in 2009 by Giorda and is characterized by intellectual disabilities, speech delay, epilepsy, and EEG abnormalities. We report the case of a patient with dupXp11.23 and major anomalies not reported in the literature. C.B. born from 1st pregnancy at 32+4 w, by cesarean section for fetal bradycardia and polyamnios; At first trimester screening, finding of large ventricular defect and high risk for trisomy 18 and 13. Non–resolving fetal DNA and normal 46XY karyotype. At birth weighing 1750 g, APGAR 1‘:3, 5‘:7,10‘: 8, he was intubated and transferred to intensive care. On physical examination: prominent frontal bumps, facial asymmetry with right hypoplasia, anterior plagiocephaly, microphthalmia, low–set left ear, large both pinnae, macroglossia, hypospadias. He underwent surgery for duodenal atresia and Meckel‘s diverticulum. In the following days poor clinical conditions, poor growth and manifestations of heart decompensation. On auscultation II tone of increased intensity, meso–pulmonary systolic murmur, hepatomegaly. The electrocardiogram showed normal sinus rhythm and signs of left ventricular hypertrophy. On echocardiogram Situs solitus –D loop Levocardia. Patent foramen ovale with middle left–right shunt, dilated left atrium, globular left ventricle, preserved systolic function. Poorly aligned arterial outflows emerging from the right ventricle. Large subpulmonary interventricular defect. Hyperflow flowmetry. Aortic arch dilated in the proximal tract. He therefore started therapy with furosemide. Subsequent monitoring showed poor growth for which cardiac surgery was indicated. This case report contributes to broadening the clinical spectrum of duplication syndrome Xp11.22–p11.23.

Physical Activity and Cardiac Morphologic Adaptations

Chronic and intense exercise programs lead to cardiac adaptations, followed by increased left ventricular wall thickness and cavity diameter, at times meeting the criteria for left ventricular hypertrophy (LVH), commonly referred to as “athlete’s heart”. Recent studies have also reported that extremely vigorous exercise practices have been associated with heightened left ventricular trabeculation extent, fulfilling noncompaction cardiomyopathy criteria, as part of exercise-induced structural adaptation. These changes are specific to the exercise type, intensity, duration, and volume and workload demands imposed on the myocardium. They are considered physiologic adaptations not associated with a negative prognosis. Conversely, hypertrophic cardiac adaptations resulting from chronic elevations in blood pressure (BP) or chronic volume overload due to valvular regurgitation, lead to compromised cardiac function, increased cardiovascular events, and even death. In younger athletes, hypertrophic cardiomyopathy (HCM) is the usual cause of non-traumatic, exercise-triggered sudden cardiac death. Thus, an extended cardiac examination should be performed, to differentiate between HCM and non-pathological exercise-related LVH or athlete’s heart. The exercise-related cardiac structural and functional adaptations are normal physiologic responses designed to accommodate the increased workload imposed by exercise. Thus, we propose that such adaptations are defined as “eutrophic” hypertrophy and that LVH is reserved for pathologic cardiac adaptations. Systolic BP during daily activities may be the strongest predictor of cardiac adaptations. The metabolic demand of most daily activities is approximately 3–5 metabolic equivalents (METs) (1 MET = 3.5 mL of O2 kg of body weight per minute). This is similar to the metabolic demand of treadmill exercise at the first stage of the Bruce protocol. Some evidence supports that an exercise systolic BP response ≥150 mmHg at the end of that stage is a strong predictor of left ventricular hypertrophy, as this BP reflects the hemodynamic burden of most daily physical tasks. Aerobic training of moderate intensity lowers resting and exercise systolic BP at absolute workloads, leading to a lower hemodynamic burden during daily activities, and ultimately reducing the stimulus for LVH. This mechanism explains the significant LVH regression addressed by aerobic exercise intervention clinical studies.

Abstract P475: Left Ventricular Hypertrophy Prevalence by Electrocardiogram in Patients Presenting With Cerebrovascular Accident

Background: A strong association has been previously suggested between left ventricular hypertrophy (LVH) and stroke. The prevalence of LVH and hypertension, however, differs depending on demographic variables. In light of the most recent hypertension guidelines, more aggressive blood pressure control is called for to achieve the lower goals set forth. This will hopefully translate into lower incidence of LVH and stroke. Objectives: To examine the prevalence of left ventricular hypertrophy in patients receiving an electrocardiogram (EKG) for a diagnosis of stroke, transient ischemic attack, or cerebrovascular accident; all of which will be referred to as CVA. Methods: An EKG database from a university cardiology noninvasive lab was examined for the diagnosis of CVA over a one year period. The EKGs were evaluated for the presence of LVH or atrial fibrillation/flutter. The results were analyzed using Chi square test. Results: There was a total of 14,798 EKGs performed over one year. There were 272 EKGs with a diagnosis of CVA (1.7%); 2364 EKGs (16%) with diagnosis of LVH, and 481 (3.2%) with diagnosis of atrial fibrillation/flutter. Out of the 272 EKGs in patients with CVA diagnosis, there were 174 EKGs in sinus rhythm without LVH (64%), 78 EKGs in sinus rhythm with LVH (29%, P &lt; 0.05), and 20 EKGs in atrial fibrillation or atrial flutter (7.4%, P &lt; 0.05). Discussion: Stroke is a major health problem associated with increased mortality and morbidity. While atrial fibrillation and atrial flutter are well-established causes of stroke and were nearly twice as frequent in CVA patients as the general population in our cohort, LVH by EKG, in the absence of atrial fibrillation/flutter, was also nearly twice as prevalent, underscoring its importance as a potential marker for CVA. Hypertension is a well established risk factor for stroke in addition to cardiovascular events, and is a major cause of LVH on EKG. In our cohort nearly one third of patients with stroke were in sinus rhythm, but had left ventricular hypertrophy by EKG, a prevalence that was nearly four times that of atrial fibrillation/flutter. Since hypertension is the most common cause of left ventricular hypertrophy in our population, this places further significance on hypertension as a major modifiable risk factor and predictor of CVA and cardiovascular disease in general. In light of the most recent hypertension guidelines, aggressive blood pressure management to achieve the newly defined lower limits for a diagnosis of hypertension, with monitoring for signs of left ventricular hypertrophy by EKG, should be emphasized in order to decrease the incidence of stroke and other cardiovascular events.

CLINICAL AND INSTRUMENTAL CHARACTERISTICS OF HEART FAILURE IN PATIENTS WITH DIFFERENT FORMS OF ATRIAL FIBRILLATION

The incidence of heart failure (HF) in the general population has reached an epidemic threshold, which is a very important problem for modern medicine. HF is accompanied by frequent comorbidity with atrial fibrillation (AF). At the current stage of scientific research, considerable attention is directed to improve the treatment of patients with HF on the background of AF with the aim of developing a complex and individual approach to the treatment of such patients.&#x0D; The purpose. Study the clinical and instrumental features of heart failure in patients with various forms of atrial fibrillation.&#x0D; Materials and methods. 90 patients aged 45-65 were examined. All patients were divided into groups: I group – patients with HF with sinus rhythm or AF (persistent and persistent), (n=50). II group - patients without HF with AF, (n=40). III – control group: 36 practically healthy people.&#x0D; The control group included persons who did not have any complaints and denied any history of cardiovascular diseases. The groups probably did not differ among themselves in terms of age and gender composition.&#x0D; All patients underwent a collection of complaints, disease history, life history, electrocardiography (ECG), echocardiography (ECHOKG), Holter ECG monitoring, heart rate variability (HRV), and a 6-minute walking test. AF diagnosis was carried out according to the clinical protocol for providing medical care to patients with atrial fibrillation, approved by the order of the Ministry of Health of Ukraine dated 07.03.2006 No. 436.&#x0D; The diagnosis of coronary heart disease (CHD) was carried out in accordance with the order of the Ministry of Health of Ukraine No. 436 of 03.07.2006 and the classification, standards of diagnosis and treatment of cardiovascular diseases of 2021.&#x0D; ECG recording was performed on a Cardiofax electrocardiograph (Electrokardiograph, 8820G, Germany) in 12 commonly accepted leads with recording of at least 4 PQRST cardiac complexes. According to the ECG data, the presence of deviation of the ST segment from the isoline, its size and shape, the polarity and amplitude of the T wave, signs of left ventricular hypertrophy, as well as the presence of heart rhythm and conduction disorders were evaluated.&#x0D; Research results. The analysis of the main clinical manifestations of HF in patients with AF showed that in most cases, 20 (80.0%) of patients had an anginal attack, which was combined with a palpitation in 24 (96.0%) and interruptions in the work of the heart in 23 (92, 0%) patients, shortness of breath in 22 (88.0%), anxiety in 13 (52.0%) and lack of air in 8 (32.0%) patients. Patients with AF without HF were troubled by anginal attacks, palpitations in 22 (88.0%) patients, heart failure in 20 (80.0%), shortness of breath in 18 (72.0%) patients. In patients with HF and AF, according to the ECG, depression of the ST segment, hypertrophy of the left ventricle, dispersion of the QT interval were detected.&#x0D; Conclusions:&#x0D; &#x0D; For patients with heart failure, the presence of anginal pain syndrome, shortness of breath, palpitations and interruptions in the work of the heart is typical.&#x0D; According to ECG data, ST segment depression, left ventricular hypertrophy, QT interval dispersion, atrial fibrillation, sinus tachycardia and extrasystole (supraventricular and ventricular) were found.&#x0D; Patients with heart failure demonstrated a lower level of household physical activity, worse indicators of the 6-minute walk test, worse quality of life.&#x0D;

PS-C30-13: GESTATIONAL HYPERTENSION AND PERIPARTUM CARDIOMYOPATHY: EPIDEMIOLOGICAL, CLINICAL AND EVOLUTIONARY PROFILE IN THE REFERENCE HOSPITALS OF YAOUNDE

Background: Peripartum cardiomyopathy (PPCM) is a primary dilated cardiomyopathy responsible for congestive heart failure that occurs in the last two months of pregnancy or during the first five months of postpartum. It is a rare pathology with unknown etiologies. Nevertheless, several etiopathogenic factors such as an history of gestational hypertension, black race, multiparity and poverty have been incriminated. However, the epidemiological and clinical data on peripartum cardiomyopathy are little known in Cameroon, thus justifying our descriptive study. Methodology: We carried out a prospective descriptive study over a period of six months. It was conducted in six reference hospitals in Yaounde. The study population was made of pregnant women with dyspnoea and women who had given birth with dyspnoea. Were included all pregnant or postpartum women (from the 32nd WA to the 5th months of postpartum) who had a LVEF &lt; 45% and/or a SF &lt; 30% associated or not with left ventricle dilation. They were placed on treatment with a follow-up over 3 months, where they had a second cardiac ultrasound to highlight the evolutionary profile. Results: We enrolled 10 patients from 26 women who were pregnant or had given birth and presented with dyspnoea within 6 months. The average age was 25.9 ± 4.9 years (range: 16–33 years). The average parity was 1.6 ± 1.17 (extreme 0–3). Multiparas were the most represented. The history of gestational hypertension was the main predisposing factor found (50%); followed by multiparity (30%), the notion of twin pregnancy and advanced maternal age (20%). Heart failure was the clinical expression in 60% of cases. Sinus tachycardia was constant; followed by signs of left ventricular hypertrophy and repolarization disorders on ECG assessment. The echocardiographic pattern depicted a hypokinetic dilated cardiomyopathy (mean LVEDD 61.2 ± 8.6 mm) with an average systolic function of 27.1 ± 10.6%. The main complications were acute pulmonary edema (60%), thromboembolic events including pulmonary embolism (10%), ischemic stroke (10%) and one death (10%). The treatment mostly based on the use of diuretics, ACE inhibitors, beta-blockers, Aldactone (1/3 of the patients) without forgetting the anticoagulation made with Rivaroxaban(n = 4) for some and aspirin (n = 6); and bromocriptine (initiated in 3 patients). Conclusion: PPCM is a cause of heart failure during pregnancy. It primarily arises during the postpartum period regardless of maternal age. It is a serious disease due to its (important morbi-mortality rate) and its complications, both hemodynamic and thromboembolic.\

772 SCREENING FOR ANDERSON-FABRY DISEASE IN RELATIVELY YOUNG PATIENTS WITH UNEXPLAINED CONDUCTION DISORDERS REQUIRING PACEMAKER IMPLANTATION

Abstract Background Anderson-Fabry Disease (AFD, OMIM 301500) is a rare X-linked lysosomal storage disorder caused by GLA gene mutation resulting in a deficit or absent activity of the α-galactosidase A enzyme (α-Gal A). This deficiency involves the impossibility of cleavage of glycophospholipids, resulting in an intralisosomal accumulation of them in different tissues. Due to an incidence of 1 in 80000, AFD is considered the second most common glycosphingolipid storage disorder after Gaucher disease. Cardiac manifestations include left ventricular hypertrophy (LVH) and arrhythmias. The rate of pacemaker implantation (PMI) in AFD has been described to be 25 times higher than in the general population, and the requirement of PMI has been reported to be as high as 8% in some AFD series. In this context, the presence of conduction abnormalities in young patients may suggest an undiagnosed AFD.1 Therefore, early diagnosis is important in AFD because appropriate therapies seem to be more effective when initiated promptly. Purpose Our aim is to detect AFD among relatively patients with unexplained conduction disturbances requiring PMI, not submitted to newborn screening. Methods Among 650 patients afferent to our ambulatory for routinary pacemaker follow-up, we considered a selected population with diagnosis of sinus node dysfunction or atrioventricular block (confirmed by atrial pacing rate ≥ 60% or ventricular pacing percentage ≥ 80%) and an age, at the time of PMI, ranging between ≥40 and ≤70 years old. The exclusion criteria were: patients with previous myocardial infarction; patient whit known cardiac disease (such as hypertrophic cardiomyopathy); patients who underwent cardiac surgery and patients with extracardiac disease with cardiac involvement such as autoimmune disorders. For this cohort of 26 adult patients (13 males; 13 females; mean age 63 ± 7 years) a prospective screening study for AFD was performed. After clinical evaluation, transthoracic echocardiography (analyzing signs of left ventricular hypertrophy) and pacemaker check, a dried blood spot sampled in filter paper was analyzed. This filter paper assay was performed in male patients in order to evaluate the α-Galactosidase A enzyme activity through the detection of Fabry disease biomarkers; only in the case of abnormal values, genetic investigation was performed. In female patients, the analysis was exclusively genetic. Results The analyses revealed 58% (15/26) of patients affected by mild LVH (IVS diameter ranging from 11 to 15 mm). No patient had severe LVH (IVS diameter ≥15 mm) or moderate-severe renal dysfunction (more than stage 3B, GFR below than 30-44 mL/min). In the restrict cohort considered, we found one 69 yo female patient with heterozygosis GLA pathogenic mutation, NM_000169.2:c.638A&amp;gt;C p.(Lys213Thr). She had normal value of liso-Gb3 1,1 ng/ml (n.v. ≤ 1,8 ng/ml). She had mild LVH (IVS diameter 12 mm) and no renal dysfunction. Familiar screening was programmed. Conclusion In a highly selected sample of relatively young patients with conduction disturbances requiring pacemaker implantation, a female patient with genetic mutation causing AFD has been identified. Therefore, it seems that screening efforts should be increased in this patient population. 1 Hemelsoet D, De Keyser J, Van Heuverswyn F et al. Screening for Fabry Disease in Male Patients With Arrhythmia Requiring a Pacemaker or an Implantable Cardioverter-Defibrillator. Circulation. 2021 Feb 23;143(8):872-874. doi: 10.1161/CIRCULATIONAHA.120.051400.

738 A RARE CASE OF UNICUSPID AORTIC VALVE WITH SEVERE STENOSIS AND REGURGITATION: CLINICAL PRESENTATION AND MANAGEMENT

Abstract A 19-year-old Pakistani migrant, who arrived in our country on foot, presented at emergency department with angina and worsening dyspnoea on exertion. The patient reported an unclear history of aortic valve disease. Clinical examination revealed a 6/6L systolic murmur with thrill. The electrocardiogram showed sinus rhythm and signs of left ventricular hypertrophy. Chest X-ray reported cardiomegaly and signs of congestion. Troponin I HS was mildly elevated (39 ng/L, n.v. &amp;lt; 18 ng/L). The patient was admitted to our Cardiology department. Transthoracic echocardiography revealed a mildly dilated left ventricle (LV), with severe hypertrophy, normal kinetics and systolic function (EF 63%), dilated ascending aorta (diam. 41 mm) and severe aortic steno-insufficiency. Transesophageal echocardiography was then performed, revealing a highly calcified, unicuspid unicommissural aortic valve with severe stenosis and regurgitation. A separate origin of left coronary ostia was also documented. The patient was referred to urgent cardiac surgery. A modified Bentall procedure (mechanical valve and prosthetic conduit) was performed with reimplantation of the coronary ostia. Due to a post-surgical complete atrioventricular block, a dual-chamber pacemaker (DDD) was implanted. Follow-up echocardiography showed reduction of LV volumes and wall thickness and normal prosthetic function. Unicuspid aortic valve is a very rare congenital disease, with a prevalence of about 0.02% in the adult population and is frequently associated with ascending aorta dilatation. The treatment is aortic valve replacement. Complete atrioventricular block can occur after surgery, requiring cardiac pacing.

786 SYSTOLIC ANTERIOR MOVEMENT OF MITRAL VALVE: NOT ONLY HYPERTROPHIC CARDIOMYOPATHY, BUT ALSO CARDIAC AMYLOIDOSIS

Abstract A 71 years-old man was diagnosed with lambda light chain multiple myeloma evolving from monoclonal gammopathy of unknown significance during hematological follow-up. Serum creatinine and blood urea were normal, but proteinuria was significant. A subsequent renal biopsy showed amyloid deposits in renal glomeruli. He had no comorbidities or previous cardiologic history. To provide a complete diagnostic work-up, an echocardiogram was performed, showing marked and asymmetric left ventricular hypertrophy (interventricular septum diastolic thickness IVSd 15 mm) with dynamic left ventricular outflow tract obstruction (LVOTO) due to an incomplete systolic anterior motion (SAM) of mitral valve. ECG showed sinus rhythm with 1st degree atrio-ventricular block; notably, there was no electrocardiographic sign of left ventricular hypertrophy. Therefore, a Cardiac Magnetic Resonance (CMR) was performed, showing left ventricular hypertrophy (interventricular septum thickness 15 mm) with normal contractility. Mild left atrial enlargement and thickening of the interatrial septum were found, together with mild circumferential pericardial effusion. No perfusion defects were recorded, but late gadolinium enhancement (LGE) pattern was not assessable because of difficult myocardial signal nulling point. These findings were consistent with cardiac amyloidosis (CA). By the time, histological demonstration of amyloid was mandatory, so an endomyocardial biopsy was performed. Amyloid deposits were found to be in the myocardial interstitial space and into the myocardial vessel walls. Immunohistochemical staining revealed diffuse and high reactivity for lambda free light chains and moderate reactivity for kappa chains. No transthyretin was found in the specimens. Finally, a diagnosis of AL amyloidosis with cardiac and renal involvement associated with lambda light chain multiple myeloma was made and chemotherapy with bortezomib, thalidomide and dexamethasone (VTD) was started. During the cardiologic follow-up, three syncope with prodromal symptoms have occurred. In all these circumstances, no arrhythmias were found at prolonged ECG Holter monitoring. Echocardiogram showed a progression of the dynamic outflow obstruction to 80 mmHg and increasing mitral regurgitation associated with complete systolic anterior motion of the valve. Given the echocardiographic features and the clinical events, we performed a genetic blood test which excluded sarcomeric genes mutations. Also, familial screening with ECG and echocardiogram was negative. A better management of pharmacological therapy, together with avoidance of hypovolemia and supportive treatment of anemia finally relieved patient's symptoms. Conclusions we presented this case to underline that, although rare, cardiac amyloidosis can resemble other hypertrophic cardiomyopathies with left ventricular outflow tract obstruction due to SAM of the mitral valve and irregular septal hypertrophy, caused by amyloid deposits. Most of these cases are seen in the senile transthyretin type, but sometimes they are observed in AL patients. Nowadays, it is crucial to diagnose these patients correctly as early treatment is critical for survival in this population.