Prognostic implications of different clinical profiles in hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a myocardial genetic disease relatively common in the general population with heterogenous clinical presentation, natural history and prognosis. About 60% of HCM patients have a stable clinical course, while others may experience a variety of HCM-related complications which follows relatively independent pathways, and that can be distinguished in different subgroups. These subgroups are represented by patients with left ventricular outflow tract obstruction; patients with end-stage disease and reduced or preserved systolic function; patients with apical hypertrophy; patients with apical aneurysm; patients with atrial fibrillation, patients at high risk of sudden death and patients with preclinical HCM. The purpose of this review was to describe each of these clinical profiles with its prognostic implications.

Favourable impact of statin use on diastolic blood pressure levels: analysis of a large database of 24-hour ambulatory blood pressure monitoring.

INTRODUCTION: Assumption of lipid-lowering drugs, mostly statins, is recommended at bed-time and evidence demonstrated a strong and independent correlation between night-time blood pressure (BP) and increased risk of cardiovascular events. AIM: To evaluate the effects of statins on night-time BP levels. METHODS: We analysed data derived from a large cohort of adult individuals, who consecutively underwent home, clinic and ambulatory BP monitoring at our Unit. All BP measurements were performed and BP thresholds were set according to recommendations from European guidelines. Study population was stratified according to statin use. RESULTS: We included an overall sample of 5634 adult individuals (women 48.9%, age 60.5 ±â€Š11.6 years, BMI 27.0 ±â€Š4.6 kg/m, clinic BP 144.3 ±â€Š18.4/90.9 ±â€Š12.4 mmHg, 24-h BP 130.7 ±â€Š13.4/79.0 ±â€Š9.7 mmHg), among whom 17.3% received and 82.7% did not received statins. Treated outpatients were older, had higher BMI and prevalence of risk factors and comorbidities than those who were untreated (P < 0.001 for all). Patients treated with statins showed lower DBP levels at all BP measurements, including night-time (67.3 ±â€Š9.4 vs. 70.9 ±â€Š9.7 mmHg; P < 0.001) periods, than those observed in untreated patients. Also, statin use resulted an independent factor associated with 24-h [odds ratio (95% confidence interval): 1.513(1.295-1.767); P < 0.001] and night-time [odds ratio (95% confidence interval): 1.357(1.161-1.587); P < 0.001] BP control, even after adjusting for age, sex, BMI, diabetes, number of antihypertensive drugs (model 1) or presence/absence of antihypertensive treatment (model 2). CONCLUSION: Statin use was associated with significantly lower DBP levels. These effects were independently observed, even after correction for cardiovascular risk factors and comorbidities, as well as number of antihypertensive drugs.

Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.

Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of α-galactosidase A (α-gal A), a lysosomal hydrolase. This inactivation is responsible for the accumulation of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. Fabry is considered a rare disease, with an incidence of 1:40,000; however, there are good reasons to believe that it is often seen but rarely diagnosed. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD. We describe the case of a 54-year-old male patient, who presented with left ventricular hypertrophy, chronic renal failure and acroparaesthesias, which are considered to be specific features of FD. Clinical and instrumental investigations showed several cardiovascular manifestations. The molecular analysis of GLA gene revealed a novel mutation in the fifth exon, called N249K, and the enzymatic analysis showed no α-galactosidase A activity. Family screening detected the same mutation in some relatives and also the enzymatic analysis confirmed the diagnosis of FD. In conclusion, these data suggest that the N249K mutation may be associated with cardiac manifestations of FD combined with other classical features of the disease.

High risk for sudden death identified by electrocardiographic loop recording in a patient with hypertrophic cardiomyopathy without major risk factors.

Recurrent presyncope is occasionally reported by patients with hypertrophic cardiomyopathy (HC). However, it is difficult to identify on 24-hour Holter recordings the mechanisms responsible for these infrequent symptoms. We report the case of a patient with HC with recurrent presyncope and without major sudden death risk factors, in whom electrocardiographic loop recording identified life-threatening arrhythmias as the mechanism responsible for these symptoms. Documentation of these arrhythmias justified implantation of a cardioverter-defibrillator in the absence of other risk factors.