Romanian Registry of Hypertrophic Cardiomyopathy - overview of general characteristics and therapeutic choices at a national level.

INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a disease with increased left ventricular (LV) wall thickness not solely explained by abnormal loading conditions, with great heterogeneity regarding clinical expression and prognosis. The aim of the present study was to collect data on HCM patients from different centres across the country, in order to assess the general characteristics and therapeutic choices in this population. METHODS: Between December 2014 and April 2017, 210 patients from 11 Romanian Cardiology centres were enrolled in the National Registry of HCM. All patients had to fulfil the diagnosis criteria for HCM according to the European Society of Cardiology guidelines. Clinical, electrocardiographic, imaging and therapeutic characteristics were included in a predesigned online file. RESULTS: Median age at enrolment was 55 ± 15 years with male predominance (60%). 43.6% of the patients had obstructive HCM, 50% non-obstructive HCM, while 6.4% had an apical pattern. Maximal wall thickness was 20.3 ± 4.8 mm (limits 15-37 mm) while LV ejection fraction was 60 ± 8%. Heart failure symptoms dominated the clinical picture, mainly NYHA functional class II (51.4%). Most frequent arrhythmias were atrial fibrillation (28.1%) and non-sustained ventricular tachycardia (19.9%). Mean sudden cardiac death risk score (SCD-RS) was 3.0 ± 2.3%, with 10.4% of the patients with high risk of SCD. However, only 5.7% received an ICD. Patients were mainly treated with beta-blockers (72.9%), diuretics (28.1%) and oral anticoagulants (28.6%). Invasive treatment of LVOT obstruction was performed in a small number of patients: 22 received myomectomy and 13 septal ablation. Cardiac magnetic resonance was reported in only 14 patients (6.6%). CONCLUSIONS: The Romanian registry of HCM illustrates patient characteristics at a national level as well as the gaps in management which need improvement - accessibility to high-end diagnostic tests and invasive methods of treatment.

The mechanisms, diagnosis and management of mitral regurgitation in mitral valve prolapse and hypertrophic cardiomyopathy.

Valvular disease is a frequent cardiac pathology leading to heart failure and, ultimately, death. Mitral regurgitation, defined as the inability of the two mitral leaflets to coapt, is a common valvular disease and a self sustained pathology. A better understanding of the mitral valve histological layers provides a better understanding of the leaflet and chordae changes in mitral valve prolapse. Mitral valve prolapse may occur in myxomatous degenerative abnormalities, connective tissue disorders or in sporadic isolated cases. It is the most common mitral abnormality of non-ischemic cause leading to severe surgery-requiring mitral regurgitation. In addition to standard echocardiographic investigations, newly implemented three-dimensional techniques are being used and they permit a better visualisation, from the so-called 'surgical view', and an improved evaluation of the mitral valve. Hypertrophic cardiomyopathy is the most frequent inherited myocardial disease caused by mutations in various genes encoding proteins of the cardiac sarcomere, leading to a marked left ventricular hypertrophy unexplained by other comorbidities. The pathological echocardiographic hallmarks of hypertrophic cardiomyopathy are left ventricular hypertrophy, left ventricular outflow tract obstruction and systolic anterior motion of the mitral valve. The systolic anterior motion of the mitral valve contributes to the development of mitral regurgitation and further narrows the left ventricular outflow tract, leading to more severe symptomatology. Cardiac magnetic resonance imaging accurately measures the left ventricular mass, the degree of diastolic function and it may also be used to distinguish phenotypic variants. The clinical outcome of patients with these pathologies is mostly determined by the selected option of treatment. The purpose of surgical correction regarding mitral valve involvement is to restore valvular competence. Surgery has proven to be the only useful treatment in preventing heart failure, improving symptomatology and reducing mortality. Our approach wishes to enhance the understanding of the mitral valve's involvement in hypertrophic cardiomyopathy and mitral valve prolapse from genetic, haemodynamic and clinical perspectives, as well as to present novelties in the grand field of treatment.

Modern Use of Echocardiography in Transcatheter Aortic Valve Replacement: an Up-Date.

Echocardiography is the cornerstone in the diagnosis of any valvular heart disease. The accurate diagnosis of aortic stenosis, the left ventricle function and the other heart valves evaluation are currently done by ultrasound alone. Prosthetic valve choice and dimensions prior to implantation can be done solely by proper use of echocardiography. The emergence of new methods to cure aortic stenosis such as trans-catheter aortic valve replacement (TAVR) emphasized the diagnostic value of cardiac ultrasound. The usefulness of echocardiography in TAVR can be divided in the baseline assessment (common to patients treated by conventional surgery), intra-procedural guidance of valve deployment and post-procedural follow-up. In the baseline diagnostic work-up echocardiography should allow proper assessment of low-gradient severe aortic stenosis and especially of "low-flow, low-gradient" aortic stenosis, as far the benefit of any valve intervention in these cases may be overshadowed by persistent ventricular dysfunction. "Classic" TAVR is performed with a trans-esophageal echocardiography probe in place, but recently intracardiac echocardiography (ICE) was advocated to reduce the need for general anesthesia. "Minimalist TAVR approach" recommends no echo-guidance and valve implantation by angiography alone. Post-TAVR echo assessment should allow prompt recognition of early complications and the severity of para-valvular leaks. Long term follow-up by echocardiography assesses prosthetic valve function, left ventricular functional recovery and the impact of the procedure on associated conditions (mitral regurgitation, pulmonary hypertension or tricuspid regurgitation). This article emphasizes the role of the cardiologist with ultrasound skills in the assessment of patients addressed to TAVR.

Acute Atherothrombotic Disease and Severe Bleeding: A Difficult Clinical Presentation in Medical Practice.

Management of antithrombotic therapy in elderly patients with unstable atherothrombotic disease and increased risk of bleeding is a major clinical challenge. We report the case of a 79 year- old diabetic man with rheumatoid arthritis on both oral corticosteroids and NSAID therapy with mild renal dysfunction, who presented to our hospital because of disabling claudication. Prior to admission he had several episodes of TIA. He also had recurrent small rectal bleeding and mild anemia attributed to his long-standing hemorrhoid disease. Angiography showed a sub-occlusive left internal carotid artery stenosis associated with a significant LAD stenosis and complex peripheral artery disease. Cataclysmic bleeding and hemorrhagic shock occurred in the third day post admission. Withdrawal of all antithrombotic treatment, blood transfusion and emergency sigmoidectomy were performed for bleeding colonic diverticulosis. Subsequently antiplatelet therapy was reinitiated and the patient successfully underwent left carotid artery endarterectomy and LAD stenting. He was discharged from hospital on the 21(st) day post admission and is doing well at 24 months follow-up.

Identical anatomical location of accessory pathway in a family with Wolff-Parkinson-White syndrome.

Identical location of accessory pathways in family members with Wolff-Parkinson-White syndrome, although theoretically possible, has never been described. A 37-year-old woman and her 18-year-old son were referred for electrophysiological study due to fast rate palpitations and pre-excitation on baseline electrocardiogram. After mapping during pre-excitation, successful radiofrequency application was located at the right free wall in both patients, in an identical anatomical position, on the infero-lateral aspect of the tricuspid ring.