Concentric Left Ventricular Hypertrophy Research Articles

Arterial Stiffness Is an Important Predictor of Heart Failure with Preserved Ejection Fraction (HFpEF)—The Effects of Phosphate Retention

Heart failure with preserved ejection fraction (HFpEF) is a major health concern. There is a growing recognition of the causal interplay between arterial stiffness and HFpEF. We recently reported that phosphate retention is a trigger for arterial stiffness. This study focuses on whether arterial stiffness due to phosphate retention could be a predictor for HFpEF. Methods: The subjects of this study were 158 patients (68 males and 90 females, mean age 74.8 ± 11.2). HFpEF was defined according to the guidelines of the ESC 2019. Pulse wave velocity (PWV) and central systolic blood pressure (CSBP) were used as markers for arterial stiffness and afterload, respectively. We measured serum levels of fibroblast growth factor 23 (FGF23) as a marker of phosphate retention. Results: The serum levels of FGF23 had a significant relationship with PWV. PWV had significant relationships with LV mass index, plasma BNP levels, and relative wall thickness, e’, and E/e’ (p < 0.001, respectively). Multivariate logistic regression analysis revealed that higher PWV values and hypertension were significant predictors for the dependent factor (HFpEF). Arterial stiffness amplified afterload, leading to LV concentric hypertrophy and diastolic dysfunction. This study presents that arterial stiffness is a key predictor of HFpEF, and that phosphate retention is involved in the pathology of HFpEF.

DON’T FORGET ABOUT CARDIAC AMYLOIDOSIS: WHEN RED FLAGS MATTER

Abstract Case Report A 78–year–old man came to our attention for worsening dyspnea, asthenia and frequent lipothymic episodes in the last few weeks. Nothing remarkable was reported in anamnesis except for periodic cardiological check–ups ascribed to hypertensive heart disease and moderate aortic stenosis. Other cardiovascular risk factors were obesity, previous smoking habits and dyslipidemia. A recent 24–hours ECG monitoring revealed slow permanent atrial fibrillation (AF) with 3–seconds pauses, frequent premature ventricular complexes (PVCs) and some PVCs couplets. On arrival, NT–proBNP was elevated (2952 pg/mL), while ECG showed AF with a heart rate of 50/m and low voltages in peripheral leads. Transthoracic echocardiogram revealed a biatrial dilatation, a severe left ventricular (LV) concentric hypertrophy with a preserved LV ejection fraction (EF) and a moderate aortic stenosis. In addition, a restrictive LV filling pattern, a decreased longitudinal myocardial contraction and an apical sparing of longitudinal strain were reported. Invasive coronary angiography was performed with evidence of normal coronary arteries. Given the echocardiographic suspicion of amyloidosis, a 99mTc–Hydroxymethylene diphosphonate (HMDP) scintigraphy was performed, showing a moderate cardiac uptake and an attenuated bone uptake (Perugini Score 2). Serum and urine immunofixation resulted negative. Genetic testing did not find any mutations in Transthyretin (TTR) gene. Therefore, the diagnosis of TTR wild–type amyloidosis was made. Before discharge, putting it all together, we opted to implant a leadless pacemaker in order to protect the patient from life–threatening bradyarrhythmias. Discussion Although it is currently considered rare, there is growing evidence that cardiac amyloidosis may be more common than once thought. First of all, it should be investigated in HFpEF–patients (heart failure with preserved EF) with LV hypertrophy. Despite several red flags (low QRS voltages, conduction disorders, elevated NT–proBNP, severe LV hypertrophy and aortic stenosis) and various medical consultations, our patient had to wait 4 years or more to be diagnosed with cardiac amyloidosis. Inevitably, a diagnostic delay means loss of time in treatment initiation. Earlier diagnosis would enable us to improve our patients’ survival and heart failure hospitalization. Awareness alone is not enough, we must be right on target too.

Challenges in Echocardiography for the Diagnosis and Prognosis of Non-Ischemic Hypertensive Heart Disease.

It has been well established that arterial hypertension is considered as a predominant risk factor for the development of cardiovascular diseases. Despite the link between arterial hypertension and cardiovascular diseases, arterial hypertension may directly affect cardiac function, leading to heart failure, mostly with preserved ejection fraction (HFpEF). There are echocardiographic findings indicating hypertensive heart disease (HHD), defined as altered cardiac morphology (left ventricular concentric hypertrophy, left atrium dilatation) and function (systolic or diastolic dysfunction) in patients with persistent arterial hypertension irrespective of the cardiac pathologies to which it contributes, such as coronary artery disease and kidney function impairment. In addition to the classical echocardiographic parameters, novel indices, like speckle tracking of the left ventricle and left atrium, 3D volume evaluation, and myocardial work in echocardiography, may provide more accurate and reproducible diagnostic and prognostic data in patients with arterial hypertension. However, their use is still underappreciated. Early detection of and prompt therapy for HHD will greatly improve the prognosis. Hence, in the present review, we shed light on the role of echocardiography in the contemporary diagnostic and prognostic approaches to HHD.

The role of cardiac imaging in assessing the cardiac involvement of type 1 Gaucher disease: a case report with review of literature

BackgroundGaucher disease (GD) is a lysosomal storage disease that leads to the accumulation of glucocerebroside within reticuloendothelial cells, haematological, neurological, skeletal and abdominal organs. These clinical manifestations are common to all types of GD, but categorization depends on the absence of neurological involvement (type I) or its presence (type II and III). Cardiac involvement is rare and only reported in few cases, where valvular and aortic calcifications were associated with type IIIc. Other cardiac manifestations, such as constrictive pericarditis, pulmonary hypertension, myocardial infiltration, and restrictive cardiomyopathy, had also been reported.Case presentationWe report a case of a 72-year-old patient with known type 1 GD who presented with a sudden syncope during exercise. He reported also an exercise intolerance evolving for three months. Echocardiography found concentric left ventricular hypertrophy with segmental hypokinesis, bi-atrial enlargement, and mildly reduced ejection fraction. Mitral flow was in favour of grade II diastolic dysfunction with elevated filling pressure. Cardiac magnetic resonance (CMR) showed interstitial fibrosis in the basal infero-septal wall, probably due to the myocardial infiltration of GD. Due to the lack of echocardiographic and CMR hallmarks of cardiac GD, we conducted a literature review on similar findings.ConclusionThis case illustrates the importance of non-invasive cardiac imaging in the diagnosis, prognosis and management of cardiac manifestations of GD.

Renal Manifestation of Mixed Connective Tissue Disease

Abstract A young female presented with facial puffiness and swelling in both lower limbs for 3 months, distension of the abdomen, and breathlessness on exertion for 1 month with a history of hypertension and hypothyroid on regular treatment. On general physical examination, there were pallor, bilateral pitting edema, tachycardia, and blood pressure of 190/100 mmHg. Abdominal examination revealed shifting dullness. Respiratory and cardiovascular systems were normal. Fundoscopy revealed Grade 1 papilledema, and the rest of the neurological examination was unremarkable. Investigations showed normocytic normochromic anemia, serum creatinine of 1.6 mg/dl, and hypoalbuminemia; urine R/E showed significant proteinuria; and anti-U1 ribonucleoprotein particle antibodies were positive. Two-dimensional echocardiography showed mild concentric left ventricular hypertrophy and mild pericardial effusion. Ultrasonography abdomen showed bilateral renal parenchymal disease and moderate ascites. Renal biopsy revealed diffuse proliferative glomerulonephritis and lupus nephritis Class IV. Renal manifestation is very rare in mixed connective tissue disease as an initial presentation

Systemic Vascular Resistance and Myocardial Work Analysis in Hypertrophic Cardiomyopathy and Transthyretin Cardiac Amyloidosis with Preserved Left Ventricular Ejection Fraction.

Background: The pathophysiological impact of systemic vascular resistance (SVR) and pressure-strain loop-derived global myocardial work index (GWI) in hypertrophic cardiomyopathy (HCM) and transthyretin cardiac amyloidosis (ATTR) has been randomly investigated. Methods: Both SVR and GWI were assessed in outpatients consecutively referred at two Italian cardiology departments for heart failure with preserved left ventricular ejection fraction (LVEF), affected by either nonobstructive HCM or wild-type ATTR. Based on relevant cross-tabulations, the patients were gathered into 4 functional classes according to cut-off values of 1440 dyne/s/cm-5 for SVR, and 1576 mm Hg% for GWI, as suggested by previous studies. Results: A total of 60 patients, 30 in each group, aged 61 ± 16 years, with 78% males, were studied. HCM patients were younger than those with ATTR and in a better clinical condition (23% HCM vs. 77% ATTR were NYHA class II-III, p < 0.001). Overall, 51 patients (85%) showed a high SVR, 21/30 HCM (70%), and 30 ATTR (100%) (p < 0.005). Both SVR and GWI (expressions of ventricular-arterial coupling) were impaired in 43% of HCM patients (showing greater LV concentric hypertrophy) and 93% of ATTR patients (in advanced NYHA functional class) (p < 0.001). Conclusions: A substantial percentage of present study population showed impaired SVR and/or GWI, despite preserved LVEF. The proposed classification may shed further light on the pathophysiological and clinical characteristics of such hypertrophic phenotypes.

Morphometric variants of remodeling and diastolic function of the left ventricle in late postmenopausal patients with vitamin D deficiency

Aim. To reveal the features of the structural-geometric remodeling of the left chambers of the heart, the diastolic function of the left ventricle and to assess the presence of calcification of the valvular structures of the heart in late postmenopausal women with different levels of vitamin D. Material and methods. The cross-sectional study included 123 postmenopausal women. A standard transthoracic echocardiography was performed with an assessment of morphometric variants of remodeling of the left chambers of the heart and its diastolic function according to the transmitral flow. The significance of differences was assessed using the Mann–Whitney test, χ2 Pearson. Differences and correlations were considered significant at p &lt; 0.05. Results. The median concentration of 25(OH)D in the sample was 20.51 ng/ml (15.8÷26.73). Adequate serum concentration of 25(OH)D was observed in 23 (19%) patients (group 1), in 100 (81%) cases vitamin D deficiency was detected (group 2). In group 1 — 7 (31%) patients had normal geometry (NG) of the left ventricle (LV), LV concentric remodeling (CR) was diagnosed in 1 (4%) case, LV concentric hypertrophy (CH) was diagnosed in 3 (13%) cases, and LV eccentric hypertrophy (EH) was detected in 12 (52%) cases. In Group 2, LV NG was diagnosed in 27 (27%) cases, LV CR was detected in 8 (8%) cases, LV CH was detected in 31 (31%) cases, and LV EH was verified in 34 (34%) cases, the differences are insignificant (p = 0.24). Patients of group 2 showed a statistically significant increase in the volume of the right atrium (RA) and thickness of the posterior wall of the left ventricle (TZSLV). In group 1, in 11 (50%) cases, rigid-type diastolic dysfunction (DD) was detected, and in 11 (50%) cases, a pseudo-normal type of DD was detected. In group 2, pseudonormal myocardial DD was detected in 26 (26%) patients, 74 (74%) patients had rigid-type DD, differences between groups were significant (p &lt; 0.001). Calcifications were found in the annulus fibrosus in 16 (70%) cases in group 1 and in 88 (88%) patients in group 2, the differences were significant (p = 0.04). Conclusion. In the study, data were obtained indicating a significant contribution of vitamin D deficiency to changes in the geometry of the left chambers of the heart, diastolic function of the left ventricle, and calcification of valvular structures.

Myocardial Injury in Peritoneal Dialysis Patients Assessed by Multiparametric MRI: Relationship With Left Ventricular Phenotypes.

Myocardial injury is common in end-stage renal disease (ESRD) patients, but the presence and severity of myocardial injury in different left ventricular (LV) phenotypes were still not fully explored. To evaluate myocardial tissue characteristics and deformation in ESRD patients on peritoneal dialysis separated into normal geometry, concentric remodeling, concentric left ventricular hypertrophy (LVH) and eccentric LVH patterns by multiparametric cardiac MRI. Prospective. A total of 142 subjects, including 102 on peritoneal dialysis (69 males) and 40 healthy controls (27 males). At 3.0 T, cine sequence, T1 mapping and T2 mapping. LV mass index and LV remodeling index were used to create four subgroups with normal geometry, concentric remodeling, concentric LVH, and eccentric LVH. LV function, strain and strain rate, myocardial native T1 and T2 were measured. Descriptive statistics, analysis of variance and analysis of covariance, Pearson/Spearman correlation, stepwise regression, and intraclass correlation coefficient. P-value <0.05 was considered statistically significant. Even in normal geometry, LV strain parameters still diminished compared with the controls (global radial strain: 30.5 ± 7.7% vs. 37.1 ± 7.9%; global circumferential strain: -18.2 ± 2.6% vs. -20.6 ± 2.2%; global longitudinal strain: -13.3 ± 2.5% vs. -16.0 ± 2.8%). Eccentric LVH had significantly lower global circumferential systolic strain rate than concentric LVH (-0.82 ± 0.21%/- second vs. -0.96 ± 0.20%/- second). Compared with the controls, the four subgroups all revealed elevated native T1 and T2, especially in eccentric LVH, while concentric remodeling had the least changes including native T1, T2, and LV ejection fraction. After adjusting for covariates, there was no statistically significant difference in T2 between the four subgroups (P = 0.359). Eccentric LVH is associated with the most pronounced evidence of myocardial tissue characteristics and function impairment, while as a benign remodeling, the concentric remodeling subgroup had the least increase in native T1. This study further confirms that native T1 and strain indicators can reflect the severity of myocardial injury in ESRD, providing better histological and functional basis for future grouping treatments. 1 TECHNICAL EFFICACY: Stage 3.

Rare c.302C>T TTR Variant Associated with Transthyretin Amyloidosis.

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

Severe labile hypertension in a patient with catecholamine-secreting neuroblastoma: a case report.

Neuroblastoma is a common pediatric tumor arising from the post-ganglionic sympathetic nervous system and is associated with hypertension in 25% of cases. We describe an unusual case of labile, multi-drug resistant hypertension associated with chemotherapy administration for neuroblastoma and provide potential management strategies in this scenario. We report the case of a 4-year-old female with a history of headaches who presented with hypertensive emergency and evidence of end-organ damage, including posterior reversible encephalopathy syndrome, acute cerebral infarct, concentric left ventricular hypertrophy, and growth failure secondary to a large, abdominal catecholamine-secreting neuroblastoma, which compressed the kidney vasculature and inferior vena cava. She was classified as intermediate risk according to Children's Oncology Group criteria and underwent chemotherapy, complicated by labile hypertension, followed by surgical resection. Vigilance in monitoring and treatment of hypertension is recommended during chemotherapy for neuroblastoma due to the potential catecholamine release in the setting of tumor lysis.

Kiosk 8R-TA-07 - Multiparametric CMR Can Detect Cardiac Amyloidosis in a Real-world Cohort of Undifferentiated Concentric Left Ventricular Hypertrophy

Kiosk 8R-TA-07 - Multiparametric CMR Can Detect Cardiac Amyloidosis in a Real-world Cohort of Undifferentiated Concentric Left Ventricular Hypertrophy

Correlation between blood pressure response to sub maximal exercise and left ventricular hypertrophy

There is currently no consensus on the definition of normal BP (blood pressure) increase during physical activity and thus of the exaggerated BP response to exercise. A hypertensive response to exercise (HRE) is frequently observed in individuals without hypertension or other cardiovascular disease. However, mechanisms and clinical implication of HRE is not fully explained. Endothelial dysfunction and increased afterload contribute to development of HRE. From neurohormonal aspects. Studies showed that excess stimulation of sympathetic nervous system and augmented rise of angiotensin II seems to be important mechanism in HRE [1]. However, evidences for efficacy and outcomes of treatment of HRE to submaximal exertion in individuals without hypertension or low grade hypertension is scarce and therefore warrants further studies. Presents small cohort of patients a total of 38 women and 46 men, aged 52±8 years, without evidence of cardiovascular disease, with a mean resting BP of 142±7/75±7mmHg had their BP measured at rest and during submaximal treadmill exercise. LV mass was measured using trans thoracic echocardiography. For the majority of the subjects on the initial evaluation we discovered echocardiographic evidence of concentric hypertrophy. Among the resting and exercise BP indices, sub maximal SBP was the strongest correlate of LV mass (r=0.40, P&lt;0.04). In multivariate analysis, maximal SBP was independently as-sociated with LV mass an concentric LV hypertrophy, after adjustment for lean body mass and gender. Subaximal exercise SBP is a modest but still independent predictor of LV remodeling (grade and type of LV geometry) in population with prehypertension, I and II grade hypertension. These results raise the possibility that the SBP response to sub maximal exercise is an early marker of developing LV hypertrophy.

The significance of catestatin and relaxin-2 in the diagnosis of myocardial remodeling in patients with essential hypertension and type 2 diabetes mellitus

Objective — to evaluate the peculiarities of electrocardiographic (ECG) and echocardiographic (EchoCG) parameters in patients with essential hypertension (EH) in combination with type 2 diabetes mellitus (T2DM) and their relationships with plasma catestatin (CTS) and relaxin­‑2 (RLN­­2) levels.&#x0D; Materials and methods. Examinations involved 106 patients with EH, from whom 55 subjects had concomitant T2DM, and 30 practically healthy volunteers. The mean age of the participants was (64.06±8.44) years, and women prevailed in the patients’ group (55.9%). All study participants underwent anthropometric data measurement, laboratory and instrumental investigations. The levels of biomarkers CTS and RLN­­2 were determined with the enzyme‑linked immunosorbent assay. Instrumental investigations included electrocardiography and transthoracic echocardiography.&#x0D; Results. CTS levels were reduced in patients with concentric (5.04±1.14 ng/mL) and eccentric left ventricular hypertrophy (LVH) (5.08±0.89 ng/mL) compared with the normal geometry (6.63±0.73 ng/mL, p &lt;0.001). The significant correlation has been established between CTS levels and ECG parameters of LVH (Cornell voltage criterion (r=–0.222; p=0.009) and Sokolow‑Lyon index (r=–0.226; p=0.008)), and EchoCG parameters, including LV end‑diastolic dimension (EDD (r=–0.388; p &lt;0.001), LV end‑systolic dimension (ESD (r=–0.453; p &lt;0.001), LV end‑diastolic volume index (EDVi (r=–0.329; p &lt;0.001), LV end‑systolic volume index ESVi (r=–0.415; p &lt;0.001), LV ejection fraction (EF (r=0.469; p &lt;0.001), septal sickness (SS) (r=–0.593; p &lt;0.001), posterior wall thickness (PWS) (r=–0.647; p &lt;0.001), relative wall thickness (RWS) (r=–0.568; p &lt;0.001), and LV myocardial mass index (LVMi) (r=–0.576; p &lt;0.001). Patients with RLN­­2 ≥ 4.69 pg/mL had higher EchoCG parameters, including LV EDD, LV ESD, LV EDVi, LV ESVi, SV, SS, PWS, RWS, LVMi (p &lt;0.05). In addition, a significant positive relationship between CTS and RLN­­2 levels has been revealed (r=0.191; p=0.026), which was also confirmed in the subgroup of patients with RLN­­2 levels above 4.69 pg/mL (r=0.585; p &lt;0.001).&#x0D; Conclusions. The decrease in CTS levels at LVH and established correlations with the ECG signs of LVH and EchoCG parameters allow us to consider CTS as a predictor of the development of LVH, especially in patients with EH combined with T2DM.

Association of left ventricular structural remodeling types with fibronectin deficiency in patients with multivessel coronary artery disease

Aim. To evaluate the serum fibronectin level in patients with multivessel coronary artery disease, and to identify the relationship of fibronectin level with atrial fibrillation (AF) developed in the hospital after coronary artery bypass grafting (CABG) and types of left ventricular (LV) structural remodeling.Material and methods. This prospective observational study of 80 patients after elective CABG at the Cardiac Surgery Department № 1 of the N.V. Sklifosovsky Research Institute for Emergency Medicine from October 2020 to May 2022. The groups were divided depending on the development of AF after CABG surgery (19 patients with AF developed in the hospital after CABG (up to 10 days), 61 patients — control group). All patients underwent a general clinical examination and transthoracic echocardiography, with estimation of left ventricular remodeling type. Serum fibronectin level was determined by enzyme immunoassay using the Fibronectin agent (Technozym, Austria).Results. The median fibronectin values in the group with AF was 110,10 [86,86; 134,00] mcg/ml versus 120,90 [92,01; 161,50] µg/ml of the comparison group (p=0,19). The following LV patterns were observed: normal LV geometry (NLVG) — in 1 patient (5,26%), concentric LV remodeling (CLVR) — in 3 patients (15,79%), concentric LV hypertrophy (CLVH) — in 10 patients (52,63%), eccentric LV hypertrophy (ELVH) — in 5 patients (26,32%). In the group without AF, 25 patients (40,98%) were diagnosed with NLVG, 26 patients (42,62%) — CLVR, 6,56% (n=4) — CLVR, while ELVH was diagnosed in 6 patients (9,84%). Differences in geometry types between groups were significant (p&lt;0,0001). Multivariate analysis adjusted for gender, age, cardiopulmonary bypass time, the predictive value remained for CLVH — odds ratio 15,83 (95% confidence interval, 4,082-1,442,00; p=0,0001) and ELVH — odds ratio 5,17 (95% confidence interval, 1,365-19,573; p=0,015). A further study showed that fibronectin &lt;116,496 µg/ml with a sensitivity of 78% and specificity of 53% is associated with CLVH (p=0,006) in patients of both groups.Conclusion. Fibronectin &lt;116,496 µg/ml is associated with CLVH in patients with multivessel coronary artery disease (sensitivity 78%, specificity 53%; p=0,006).

Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature

BackgroundCantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities. With only 150 cases reported worldwide, Cantu syndrome is now gaining wider recognition due to molecular testing and a growing body of literature that further characterizes the syndrome and some of its most important features. Cardiovascular pathology previously described in the literature include cardiomegaly, pericardial effusion, vascular dilation and tortuosity, and other congenital heart defects. However, cardiovascular involvement is highly variable amongst individuals with Cantu syndrome. In some instances, it can be extensive and severe requiring surgical management and long term follow up.Case presentationHerein we report a case of a fourteen-year-old female who presented with worsening pericardial effusion of unknown etiology, and echocardiographic findings of concentric left ventricular hypertrophy, a mildly dilated aortic root and ascending aorta. Her medical history was notable for hemoptysis and an episode of pulmonary hemorrhage secondary to multiple aortopulmonary collaterals that were subsequently embolized in early childhood. She was initially managed with Ibuprofen and Colchicine but continued to worsen, and ultimately required a pericardial window for the management of refractory pericardial effusion. Imaging studies obtained on subsequent visits revealed multiple dilated and tortuous blood vessels in the head, neck, chest, and pelvis. A cardiomyopathy molecular studies panel was sent, and a pathogenic variant was identified in the ABCC9 gene, confirming the molecular diagnosis of autosomal dominant Cantu syndrome.ConclusionsVascular anomalies and significant cardiac involvement are often present in Cantu syndrome, however there are currently no established screening recommendations or surveillance protocols in place. The triad of hypertrichosis, facial dysmorphism, and unexplained cardiovascular involvement in any patient should raise suspicion for Cantu syndrome and warrant further investigation. Initial cardiac evaluation and follow up should be indicated in any patient with a clinical and/or molecular diagnosis of Cantu syndrome. Furthermore, whole body imaging should be utilized to evaluate the extent of vascular involvement and dictate long term monitoring and care.

Enhanced central sympathetic tone induces heart failure with preserved ejection fraction (HFpEF) in rats.

Heart failure with preserved ejection fraction (HFpEF) is a heterogenous clinical syndrome characterized by diastolic dysfunction, concentric cardiac left ventricular (LV) hypertrophy, and myocardial fibrosis with preserved systolic function. However, the underlying mechanisms of HFpEF are not clear. We hypothesize that an enhanced central sympathetic drive is sufficient to induce LV dysfunction and HFpEF in rats. Male Sprague-Dawley rats were subjected to central infusion of either saline controls (saline) or angiotensin II (Ang II, 20ng/min, i.c.v) via osmotic mini-pumps for 14 days to elicit enhanced sympathetic drive. Echocardiography and invasive cardiac catheterization were used to measure systolic and diastolic functions. Mean arterial pressure, heart rate, left ventricular end-diastolic pressure (LVEDP), and ± dP/dt changes in responses to isoproterenol (0.5μg/kg, iv) were measured. Central infusion of Ang II resulted in increased sympatho-excitation with a consequent increase in blood pressure. Although the ejection fraction was comparable between the groups, there was a decrease in the E/A ratio (saline: 1.5 ± 0.2 vs Ang II: 1.2 ± 0.1). LVEDP was significantly increased in the Ang II-treated group (saline: 1.8 ± 0.2 vs Ang II: 4.6 ± 0.5). The increase in +dP/dt to isoproterenol was not significantly different between the groups, but the response in -dP/dt was significantly lower in Ang II-infused rats (saline: 11,765 ± 708mmHg/s vs Ang II: 8,581 ± 661). Ang II-infused rats demonstrated an increased heart to body weight ratio, cardiomyocyte hypertrophy, and fibrosis. There were elevated levels of atrial natriuretic peptide and interleukin-6 in the Ang II-infused group. In conclusion, central infusion of Ang II in rats induces sympatho-excitation with concurrent diastolic dysfunction, pathological cardiac concentric hypertrophy, and cardiac fibrosis. This novel model of centrally mediated sympatho-excitation demonstrates characteristic diastolic dysfunction in rats, representing a potentially useful preclinical murine model of HFpEF to investigate various altered underlying mechanisms during HFpEF in future studies.

Predictors of Atrial Fibrillation Developing in Hospital Stage After Coronary Artery Bypass Surgery

Aim To identify independent predictors associated with in-hospital atrial fibrillation (AF) following coronary artery bypass grafting (CABG).Material and methods The study included 80 patients (88.75 % men) who had elective CABG surgery at the Sklifosovsky Research Institute of Emergency Medicine. Based on the development of AF during the hospital stage of treatment (up to 10 days after CABG surgery), patients were divided into two groups. The group with AF consisted of 19 patients, and the group without AF consisted of 61 patients. All patients underwent electrocardiography (ECG), transthoracic echocardiography (EchoCG) with calculation of the left ventricular (LV) geometry type, and assessment of operational indexes. During surgery, biopsy of a part of the right atrial (RA) appendage was taken from 61 patients to verify the severity of myocardial fibrosis on a four-score scale where 0 is no interstitial fibrosis, 1 is slight fibrosis, 2 is moderate fibrosis, and 3 is severe fibrosis.Results All included patients had a low risk of developing postoperative complications according to the EuroSCORE II scale. According to EchoCG data, patients with AF had significantly higher ratios of left ventricular myocardial mass to body surface area (LVMM / BSA) (p = 0.0006) and of left atrial volume to body surface area (LA volume / BSA), p = 0.008). The distribution of patients by type of LV geometry was as follows: in the group with AF, 52.63 % (n=10) of patients were diagnosed with concentric LV hypertrophy (LVH) whereas in the group without AF, the majority of patients (83.60 %, n=51) had normal LV geometry and concentric LV remodeling (LVR) (p&lt;0.0001). According to the results of histological study, patients of the AF group more frequently had moderate and severe interstitial fibrosis in the AF appendage (p = 0.003). After multivariate regression and ROC analysis, the predictive value remained for concentric LVH (p=0.002), LVMM / BSA ratio ≥97 g / m2 (p=0.006), LA volume / BSA ratio ≥ 34.4 ml / m2 (p=0.04), and for RA appendage interstitial fibrosis score ≥2 (p=0.004). Based on the identified predictors, a regression model was developed to predict the development of AF at the hospital stage after CABG (p&lt;0.0001). The sensitivity and specificity of the model were 86.67 % and 78.26 %, respectively.Conclusion In patients at low perioperative risk, the LVMM / BSA ratio ≥97 g / m2, the LA volume ratio / BSA ≥34.4 ml / m2, a RA appendage interstitial fibrosis score ≥2, and the presence of LVH were independent predictors of the development of AF at the hospital stage after CABG operation.Conclusion In patients at low perioperative risk, a LVMM / BSA ratio ≥97 g / m2, a LA volume / BSA ratio ≥34.4 ml / m2, a RA appendage interstitial fibrosis score ≥2, and the presence of LVH were independent predictors of the development of AF at the hospital stage after CABG.

Cardiac Abnormalities in Hispanic/Latina Women With Prior De Novo Hypertensive Disorders of Pregnancy.

Hypertensive disorders of pregnancy (HDP) are associated with long-term maternal risks for cardiovascular disease for reasons that remain incompletely understood. The HCHS/SOL (Hispanic Community Health Study/Study of Latinos), a multi-center community-based cohort of Hispanic/Latino adults recruited 2008 to 2011, was used to evaluate the associations of history of de novo HDP (gestational hypertension, preeclampsia, eclampsia) with echocardiographic measures of cardiac structure and function in Hispanic/Latina women with ≥1 prior pregnancy and the proportion of association mediated by current hypertension (>140/90 mm Hg or antihypertensive therapy). The study cohort included 5168 Hispanic/Latina women with an average age (SD) of 58.7 (9.7) years at time of echocardiogram. Prior de novo HDP was reported by 724 (14%) of the women studied and was associated with lower left ventricle (LV) ejection fraction -0.66 (95% confidence interval [CI], -1.21 to -0.11), higher LV relative wall thickness 0.09 (95% CI, 0-0.18), and 1.39 (95% CI, 1.02-1.89) higher risk of abnormal LV geometry after adjusting for blood pressure and other confounders. The proportion of the association mediated by current hypertension between HDP and LV ejection fraction was 0.09 (95% CI, 0.03-0.45), LV relative wall thickness was 0.28 (95% CI, 0.16-0.51), abnormal LV geometry was 0.14 (95% CI, 0.12-0.48), concentric left ventricular hypertrophy was 0.31 (95% CI, 0.19-0.86), and abnormal LV diastolic dysfunction was 0.58 (95% CI, 0.26-0.79). In a large cohort of Hispanic/Latina women those with history of de novo HDP had detectable and measurable subclinical alterations in cardiac structure and both systolic and diastolic dysfunction that were only partially mediated by current hypertension.

Prediction of genetic cardiomyopathy by whole exome sequencing and myocardial strain in patients with concentric left ventricle hypertrophy

Abstract Introduction Genetic cardiomyopathies (CMP) are a group of inherited diseases that can lead to heart failure and sudden cardiac death. Left ventricular hypertrophy (LVH) is common findings in these diseases, but the diagnosis can be challenging due to their heterogeneous clinical presentations. Myocardial strain and whole exome sequencing (WES) are a powerful tool for early detection of genetic CMP. Purpose We aim to investigate the utility of the combination of myocardial strain and WES in the diagnosis of genetic CMP in patients with LVH. Methods We performed WES with buccal swab test on a total of 65 patients who had concentric LVH and decreased global average strain (GAS) by echocardiography between July 2021 and December 2022. The genetic data was analyzed to identify disease-causing genetic variants, and the clinical data and echocardiographic findings were collected and analyzed. Logistic regression analysis was performed to identify the predictive factors of genetic cardiomyopathy, and receiver operating characteristic (ROC) curve analysis was performed to determine the diagnostic accuracy of these factors. Results Of the 65 patients, we identified 10 patients with genetic cardiomyopathy by WES, including hypertrophic CMP, cardiac amyloidosis, and Fabry disease. The diagnostic yield of WES was 15.4% for genetic CMP. Logistic regression analysis showed that sex, diastolic blood pressure, interventricular septal thickness at end diastole (IVSd) and end systole (IVSs), posterior wall thickness at end diastole (PWd), and GAS were significant predictors of genetic CMP (p&amp;lt;0.05 for all). ROC curve analysis showed that IVSs had the highest area under the curve (AUC) value of 0.711 (p=0.037), with a sensitivity of 60.0% and a specificity of 67.3%. Conclusion Our study highlights the utility of WES and myocardial strain with echocardiographic data in diagnosing genetic CMP, especially in patients with concentric LVH. These findings support the integration of genetic testing and advanced imaging techniques in the diagnostic approach for patients with suspected genetic cardiomyopathies.

Prevalence of target organ disease and its relation with HbA1c at the point of detection of type 2 diabetes mellitus – A cross sectional study from a tertiary care hospital in Odisha

Introduction and Aim: HbA1c is not only a valid indicator of chronic hyperglycaemia but also coincides with the increased risk of diabetic complications in the long term. This study focuses on the prevalence of target organ disease (TOD) and its relation with HbA1c at the point of detecting Type 2 Diabetes Mellitus(T2DM). Materials and Methods: This is a single-centre cross-sectional study done in the Department of General medicine at IMS and SUM Hospital, Odisha, between November 2020 and June 2022, including all newly diagnosed Type-2 Diabetes Mellitus patients aged &gt; 30 years. Besides all the biochemical parameters, the demographic profile was noted in an excel sheet, and later on, using SPSS version 26, the data was analysed categorically. Results: 148 newly diagnosed Type 2 DM patients were enrolled in the study with male predominance (54.72%). The mean age was found as 52.49±9.40 years. There were 29 (19.5%) cases of diabetic retinopathy, 39 (26.3%) diabetic neuropathy, 32(21.6%) diabetic nephropathy and 23(15.54%) left ventricular diastolic dysfunction, with a minimal number of RWMA [7 (4.72%)], Concentric left ventricular hypertrophy [9 (6.08%)] and Ischemic DCM [1(0.67%)] found as complications of newly diagnosed Diabetes mellitus patients. The prevalence of coronary artery disease (CAD) is higher in our study than in other diabetic complications, i.e., 40 (27.02%).A statistically significant (p&lt;0.05) correlation exists between newly diagnosed Diabetes patients with higher HbA1C and serum creatinine, serum urea, microalbuminuria, and positive monofilament test. Conclusion: This study underscores the significance of assessing target organ damage (TOD) prevalence for Type 2 Diabetes Mellitus (T2DM) detection, highlighting the utility of HbA1c testing. HbA1c, a rapid and precise diagnostic tool, holds promise, especially in resource-limited settings, aiding in timely T2DM diagnosis and improved patient care amid the global diabetes epidemic.