The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium most commonly caused by mutations in sarcomeric genes. We aimed to perform a nationwide large-scale genetic analysis of a previously unreported, representative HCM cohort in Hungary. A total of 242 consecutive HCM index patients (127 men, 44 ± 11 years) were studied with next generation sequencing using a custom-designed gene-panel comprising 98 cardiomyopathy-related genes.

Stress Echo 2030: The Novel ABCDE-(FGLPR) Protocol to Define the Future of Imaging.

With stress echo (SE) 2020 study, a new standard of practice in stress imaging was developed and disseminated: the ABCDE protocol for functional testing within and beyond CAD. ABCDE protocol was the fruit of SE 2020, and is the seed of SE 2030, which is articulated in 12 projects: 1-SE in coronary artery disease (SECAD); 2-SE in diastolic heart failure (SEDIA); 3-SE in hypertrophic cardiomyopathy (SEHCA); 4-SE post-chest radiotherapy and chemotherapy (SERA); 5-Artificial intelligence SE evaluation (AI-SEE); 6-Environmental stress echocardiography and air pollution (ESTER); 7-SE in repaired Tetralogy of Fallot (SETOF); 8-SE in post-COVID-19 (SECOV); 9: Recovery by stress echo of conventionally unfit donor good hearts (RESURGE); 10-SE for mitral ischemic regurgitation (SEMIR); 11-SE in valvular heart disease (SEVA); 12-SE for coronary vasospasm (SESPASM). The study aims to recruit in the next 5 years (2021-2025) ≥10,000 patients followed for ≥5 years (up to 2030) from ≥20 quality-controlled laboratories from ≥10 countries.

Imaging Quality Control, Methodology Harmonization and Clinical Data Management in Stress Echo 2030.

Stress echo (SE) 2030 study is an international, prospective, multicenter cohort study that will include >10,000 patients from ≥20 centers from ≥10 countries. It represents the logical and chronological continuation of the SE 2020 study, which developed, validated, and disseminated the "ABCDE protocol" of SE, more suitable than conventional SE to describe the complex vulnerabilities of the contemporary patient within and beyond coronary artery disease. SE2030 was started with a recruitment plan from 2021 to 2025 (and follow-up to 2030) with 12 subprojects (ranging from coronary artery disease to valvular and post-COVID-19 patients).

Prognostic Value of Reduced Heart Rate Reserve during Exercise in Hypertrophic Cardiomyopathy.

Background: Sympathetic dysfunction can be evaluated by heart rate reserve (HRR) with exercise test.

Objectives: To determine the value of HRR in predicting outcome of patients with hypertrophic cardiomyopathy (HCM).

Methods: We enrolled 917 HCM patients (age = 49 ± 15 years, 516 men) assessed with exercise stress echocardiography (ESE) in 11 centres.

The role of stress echocardiography in cardiovascular disorders.

Stress echocardiography is a safe, low‑cost, widely available, radiation‑free versatile imaging modality that is becoming increasingly recognized as a valuable tool in the assessment of coronary heart disease. In recent years, there has also been an increasing use of stress echocardiography in the assessment of nonischemic cardiac disease given its unique ability for simultaneous assessment of both functional performance and exercise‑related noninvasive hemodynamic changes, which can help guide treatment and inform about the prognosis of the patients. Today, in the echocardiography laboratory, we can not only detect wall motion abnormalities resulting from coronary artery stenosis, but also detect alterations to the coronary microvessels, left ventricular systolic and diastolic parameters, heart valves, pulmonary circulation, alveolar‑capillary barrier, and right ventricle.

Pulmonary Arterial Pressure Response During Exercise in COPD: A Correlation with C-Reactive Protein (hsCRP).

Background: The non-invasive assessment of pulmonary haemodynamics during exercise provides complementary data for the evaluation of exercise tolerance in patients with COPD.

Methods: Exercise echocardiography in the semi-supine position was performed in 27 patients with COPD (C) with a forced expiratory volume in one second (FEV1) of 36±12% predicted and 13 age and gender-matched non-COPD subjects (NC). COPD patients also underwent cardiopulmonary exercise testing with gas exchange detection (CPET).

Prevalence of exocrine pancreatic insufficiency in type 2 diabetes mellitus with poor glycemic control.

Objectives: To evaluate the relationship between exocrine pancreatic insufficiency and the level of glycemic control in diabetes (DM).

Methods: Patients with type 2 DM treated in our clinic were prospectively recruited into the study. Pancreatic diabetes was excluded.

Improved glycemic control in pancreatic diabetes through intensive conservative insulin therapy.

Objective: The aim of this study was to evaluate the effectivity and safety of insulin therapy in patients with DM secondary to underlying chronic pancreatitis with initially inappropriate glycemic control.

Methods: Pancreatic DM patients treated with oral antidiabetics (OAD) or pre-mixed insulin (PMI) with HbA1c ≥7.0% were recruited.

Angiographically borderline left main coronary artery lesions: correlation of transthoracic doppler echocardiography and intravascular ultrasound: a pilot study.

Background: the clinical decision making could be difficult in patients with borderline lesions (visually assessed stenosis severity of 30 to 50%) of the left main coronary artery (LM). The aim of the study was to evaluate the relationship between transthoracic Doppler (TTDE) peak diastolic flow velocity (PDV) and intravascular ultrasound (IVUS) measurements in the assessment of angiographically borderline LM lesions.

Methods: 27 patients (mean age 64 ± 8 years, 21 males) with borderline LM stenosis referred for IVUS examination were included in the study.

Deviation of the atrial septum primum predisposing to local thrombus formation.

In a substantial proportion of patients with recent systemic embolization, no evident source of embolism or predisposing factors can be verified. As yet unidentified cardiac abnormalities may play a role in the pathogenesis of the peripheral embolic events. The authors report the case of a 72-year-old man who presented with atrial fibrillation and recurrent in situ thrombus formation in the territory of the fossa ovalis.

Additional help to diagnose functionally significant left main coronary artery stenosis: doppler echocardiography.

Doppler echocardiography is a widely used non-invasive method for the evaluation of coronary flow velocities and reserve. We report a case that demonstrates the possible additive role of transthoracic echocardiography (TTE) in the diagnosis of significant left main coronary artery (LM) stenosis in a chest pain patient. Coronary angiography showed no significant LM stenosis.

Myocardial protection with enalaprilat in patients unresponsive to ischemic preconditioning during percutaneous coronary intervention.

Cardioprotection due to angiotensin enzyme inhibitors is attributed, at least in part, to the inhibition of bradykinin breakdown and the preconditioning effect of the elevated endogenous bradykinin level. We have previously shown that in patients undergoing percutaneous coronary intervention, one 120-second balloon inflation is insufficient to precondition the heart. The objective of the present study was to examine whether the administration of enalaprilat to these patients results in protection.

[Primary lung cancer causing pulmonary artery microembolization and pulmonary hypertension].

The authors present a rare cause of pulmonary hypertension, which occurred in a 57-year-old woman. Postmortem examination discovered an adenocarcinoma with bronchioloalveolar growth pattern as a cause of severe dyspnoea, extreme pulmonary hypertension, and chronic cor pulmonale. The tumour involved all lobes of the lung.

[Pseudosyncope and pseudoseizure].

Syncope is a frequent complaint which imposes a considerable burden on the health care systems. Although our diagnostic tools have improved during the last decades, the exact cause of syncope still remains unknown in a small fraction of cases. In the heterogenous group of "syncope with unknown origin" there are a few cases of pseudosyncope.

Transthoracic echocardiographic evaluation of aortic distensibility in a Takayasu's arteritis patient.

Takayasu's arteritis (TA) is a chronic, nonspecific, rare, and segmental inflammatory disease that primarily affects the aorta and its main branches. In the present case, the aortic elastic properties were decreased (aortic distensibility was practically normal) suggesting that ascending aorta was not affected by TA. For preoperative assessment, a routine transthoracic echocardiography can be a valuable method for the noninvasive functional evaluation of ascending aorta in a patient with TA.

The elusive prognostic value of systemic endothelial function in patients with chest pain syndrome.

The prognostic value of systemic endothelial dysfunction still remains uncertain in ischemic heart disease. The aim of the study was to establish the prognostic value of ultrasonically assessed systemic endothelial dysfunction in patients with chest pain syndrome and to assess whether this information was incremental to that already provided by simple parameters derived from echocardiography, such as left ventricular mass index or ejection fraction. One hundred ninety-five in-hospital patients (age=60+/-10 years; 63 females) with known or suspected CAD have been enrolled.

Autoimmune pancreatitis: functional and morphological recovery after steroid therapy.

Autoimmune pancreatitis, a recently recognized type of chronic pancreatitis, is not rare in Japan, but reports of it elsewhere are relatively uncommon. We report the first preoperatively diagnosed case of autoimmune pancreatitis in Hungary, which responded well to steroid treatment and provided radiographic and functional evidence of this improvement. A 62-year-old female presented with a 4-month history of recurrent epigastric pain and a 5-kg weight loss.

A case of absent right and persistent left superior vena cava.

Background And Purpose: Our case report deals with the importance of detailed echocardiographic examination for differential diagnosis of coronary sinus dilation and development of abnormalities of great thoracic veins.

Case Presentation: A 49-year-old man underwent transthoracic echocardiography for atypical chest pain. A dilated coronary sinus was found and venous contrast echocardiography raised the suspicion of absent right and persistent left superior vena cava.

The coronary flow velocity reserve measured by stress transoesophageal echocardiography evaluates the success of coronary interventions--results of a 5-year follow-up.

Objectives: The aim of the present study was to examine the long-term prognostic value of coronary flow velocity reserve (CFR) evaluated by means of stress transoesophageal echocardiography (STEE) in patients who have undergone percutaneous coronary intervention (PCI).

Design: The study comprised 31 patients with significant LAD stenosis who underwent LAD-PCI. In consequence of their clinical signs, 11 subjects required rePCI or coronary artery bypass graft (CABG) operation within six months.

Long-term survival of patients with chest pain syndrome and angiographically normal or near-normal coronary arteries: the additional prognostic value of dipyridamole echocardiography test (DET).

Aims: Patients with normal coronary arteries have a heterogeneous prognosis. Aim of this study was to assess whether dipyridamole stress echocardiography positivity identifies a prognostically less benign subset.

Methods And Results: We selected 457 patients (245 males; 56+/-10 years) who underwent stress high-dose dipyridamole echocardiography and had angiographically non-significant (<50% visually assessed) stenosis in any major vessel and preserved left ventricular function.

[A case of absent right and persistent left superior vena cava: echocardiographic diagnosis].

A 49-year-old man underwent transthoracic echocardiography for atypical chest pain. A dilated coronary sinus was found and venous contrast echocardiography raised the suspicion of absent right and persistent left superior vena cava. Transesophageal echocardiography showed no presence of right superior vena cava.

[Role of echocardiographic assessment of the left atrial appendage in clinical practice].

Background: It is known for a long-while that the left atrial appendage is a frequent source of cardiac thrombus formation associated with systemic embolism. Transesophageal echocardiography made it possible to evaluate accurately the left atrial appendage in vivo. Albeit the most important part of transesophageal echocardiographic evaluation of left atrial appendage is the exclusion of thrombi, growing evidence support that several other clinically important informations can be achieved with its detailed ultrasonographic assessment.