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.

Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy.

Importance: Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. Objective: To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations. Design, Setting, and Participants: This retrospective analysis of patients undergoing surgical septal reduction strategies was conducted in 3 European tertiary referral centers for HCM from July 2013 to December 2016. Patients with a clinical diagnosis of obstructive HCM referred for surgical management of LVOTO were observed for at least 18 months after the procedure (mean [SD] follow-up, 33 [14] months). Main Outcomes and Measures: Etiology of patients with HCM who underwent surgical myectomy. Results: From 2013, 235 consecutive patients with a clinical diagnosis of HCM underwent septal myectomy. The cardiac surgeon suspected a storage disease in 3 patients (1.3%) while inspecting their heart samples extracted from myectomy. The mean (SD) age at diagnosis for these 3 patients was 42 (4) years; all were male. None of the 3 patients presented with extracardiac features suggestive of AFC. All patients showed asymmetrical left ventricular hypertrophy, with maximal left ventricular thickness in the basal septum (19-31 mm), severe basal LVOTO (70-120 mm Hg), and left atrial dilatation (44-57 mm). Only 1 patient presented with late gadolinium enhancement on cardiovascular magnetic resonance at the right ventricle insertion site. The mean (SD) age at surgical procedure was 63 (5) years. On tactile sensation, the surgeon felt a spongy consistency of the surgical samples, different from the usual stony-elastic consistency typical of classic HCM, and this prompted histological examinations. Histology showed evidence of intracellular storage, and genetic analysis confirmed a GLA A gene mutation (p.Asn215Ser) in all 3 patients. Conclusions and Relevance: Screening for AFC should be performed even in the absence of red flags in patients with HCM older than 25 years.

Visit-to-Visit Blood Pressure Variability and Arterial Stiffness Independently Predict Cardiovascular Risk Category in a General Population: Results from the SEPHAR II Study.

INTRODUCTION: The aim of our study was to evaluate visit-to-visit blood pressure variability (BPV) and the association of this parameter with cardiovascular risk determinants, according to the SEPHAR II survey. METHODS: Following a selection based on the multi-stratified proportional sampling procedure, a total of 1975 subjects who gave informed consent were evaluated by means of a questionnaire, anthropometric, blood pressure (BP) and arterial stiffness measurements (pulse wave velocity and augmentation index), 12-lead ECG recordings, and blood and urine analysis. BPV was quantified in terms of the standard deviation (SD) of the mean systolic blood pressure (SBP) and high BPV was defined as SBP-SD above the 4th quartile. Total cardiovascular risk was assessed by the 2013 ESH/ESC risk stratification chart. RESULTS: Mean BP was 132.37/82.01 mmHg. Mean systolic BPV was 6.16 mmHg, with 24.62% of values above the 75th percentile (8.48 mmHg). Factors found to be associated with high systolic BPV were age, SBP, pulse pressure, total and LDL-cholesterol, triglycerides, visceral obesity, diabetes mellitus, metabolic syndrome and increased aortic stiffness. In addition, in the hypertensive group high BPV was associated with the severity of hypertension and a lack of treatment control. Both visit-to-visit systolic BPV and aortic stiffness proved to be positively and independently correlated with the risk category. Based on these parameters it was possible to predict with 72.6% accuracy the probability of finding subjects in a high and very high cardiovascular risk category. CONCLUSIONS: The results of our study indicate a notable prevalence of high BPV, affecting almost a quarter of the Romanian adult population. Visit-to-visit systolic BPV and arterial stiffness are strongly correlated and together might contribute to the improvement of cardiovascular risk prediction models.

Apical Hypertrophic Cardiomyopathy: The Ace-of-Spades as the Disease Card.

UNLABELLED: Apical cardiac hypertrophy (Yamaguchi syndrome) is a relatively rare form of hypertrophic cardiomyopathy. A 67-year-old woman presented with exertional angina and moderate dyspnea. Her electrocardiogram showed sinus rhythm, flattened T waves in the limb leads and a strain pattern in the V2-V6 leads. Echocardiographic examination showed that apical wall thickness of the left ventricle (LV) was 19 mm. Coronary angiography was normal, but left ventriculography revealed a spade-like shaped LV cavity, typical for apical cardiac hypertrophy. The diagnostic criteria for apical cardiac hypertrophy are: 1) asymmetric LV hypertrophy - predominantly at the apex of the ventricle; 2) LV wall thickness of 15 mm or more during diastole; and 3) apical to posterior wall thickness ratio of 1.5 or more determined by 2-dimensional echocardiography or cardiac magnetic resonance imaging. Although relatively rare, Yamaguchi syndrome must enter into the differential diagnosis of patients presenting with exertional angina pectoris. KEY WORDS: Angina pectoris; Hypertrophic cardiomyopathy.

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.

B-Type Natriuretic Peptide (BNP) and Left Ventricular (LV) Function in Patients with ST-Segment Elevation Myocardial Infarction (STEMI).

BACKGROUND: After acute myocardial infarction (AMI), left ventricular (LV) function is a well-established prognostic marker. Recent studies indicate that serum levels of brain natriuretic peptide (BNP) also represent an prognostic marker in this setting but so far without a precise cut-off value. OBJECTIVE: The aim of this study was to assess the predictive value of BNP serum levels for LV function assessed by echocardiography in STEMI patients undergoing revascularization. METHODS: We prospectively studied a cohort of 88 consecutive patients (mean age 51.6 years, 88.6% males) hospitalized in our clinic for STEMI in Killip class I (50% anterior infarction), who underwent reperfusion therapy. Serum BNP levels were measured on admission, at 24h and at 30 days after reperfusion. Detailed echocardiography was performed at baseline, at 24 hours after reperfusion, on discharge and at follow-up at 1 month. Left ventricular systolic and diastolic dysfunction were defined by LVEF < 45% and E/A ratio respectively. RESULTS: ROC curve analysis showed that BNP measurements on admission and at 24 hours after revascularization have no predictive value neighter for diastolic LV dysfunction in anteior or inferior AMI patients, nor for systolic LV dysfunction in inferior AMI patients. Only BNP levels at 24 hours after revascularization can predict systolic LV dysfunction in anterior AMI patients with a 90.3% sensitivity and a 60% false positive rate at a cutt off value of 90pg/ml. CONCLUSIONS: Early measurement of BNP levels may allow early prediction of anterior STEMI patients at risk of developing systolic LV dysfunction after revascularization therapy.

Primary left heart malignant fibrous histiocytoma.

We present the case of a 53 years-old woman presenting with congestive heart failure and pleural and pericardial effusions, in whom transthoracic and transesophageal echocardiography revealed multilocular cardiac tumor involving the left atrium wall, extending into the pericardium. Tumor was excised surgically and proved to be a malignant fibrous histiocytoma, primarily confined to the heart. Despite surgery followed by chemotherapy, the patient died a few months later. This is the 47th case of primary cardiac fibrous malignant histiocytoma reported in the literature. The pericardial involvement has been only rarely reported. Echocardiography was the method of diagnosis before rapid referral to surgery.