Heart involvement in patients with myotonic dystrophy type 2.

Myotonic dystrophy type 2 (DM2) is a slowly progressive, autosomal-dominant disease. This is a multisystemic disorder that affects the heart, which is one of the main causes of morbidity and mortality in DM2. The aim of the study was to define cardiac impairments in patients with DM2 and its association with sociodemographic and clinical features of patients. This retrospective study comprised 62 adult patients with DM2 hospitalized at the Neurology Clinic, Clinical Center of Serbia from 2013 until 2018, who underwent electrocardiography (ECG) and echocardiography examinations. Hypertension was observed in 42% of DM2 patients. One-fifth of DM2 patients had bradycardia, while other conduction and rhythm impairments were rare. Only one patient had a pacemaker implanted because of the first degree AV block associated with incomplete left bundle branch block. Echocardiography showed diastolic dysfunction of the left ventricle in 44% of patients, while systolic dysfunction was found in only 4%. Cardiomyopathy was observed in 18% of patients, of whom three-fourth had dilated type. Cardiac conduction and rhythm defects are relatively rare in DM2, while diastolic dysfunction is common. This suggests that regular ECG and echocardiography screening is needed in DM2. Adequate therapy should be introduced in patients with DM2 on time to reduce the frequency of heart complications and to prevent premature death.

Increased risk of cognitive impairment and more severe brain lesions in hypertensive compared to non-hypertensive patients with cerebral small vessel disease.

Although cerebral small vessel disease (SVD) is traditionally associated with aging and hypertension (HT), there are patients exhibiting sporadic SVD, free of HT. We aimed to investigate the differences in clinical and neuroradiological presentation in SVD patients in reference to the presence of HT as a risk factor (RF). Vascular RF, cognitive and functional status were evaluated in a cohort of 424 patients. Patients were classified in two groups based on the presence of HT. Severity of vascular lesions was assessed using 1.5 T magnetic resonance imaging with Age-Related White Matter Changes scale total score (tARWMC) and Fazekas scale periventricular (PV) and deep subcortical (DS) scores. No difference between groups in age and sex distribution was noted. In univariate analysis, HT was associated with vascular cognitive impairment (vCI) (OR 2.30, 1.53-3.45, P < 0.0001), functional status (OR 1.47, 1.11-1.95, P = 0.007), depression (OR 2.13, 1.23-3.70, P = 0.007), tARWMC (OR 1.10, 1.05-1.16 95% CI, P < 0.0001), Fazekas PV score (OR 1.34, 1.08-1.67 95% CI, P = 0.008), Fazekas DS score (OR 1.95, 1.44-2.63 95% CI, P < 0.0001) and total number of lacunes (OR 1.10, 1.02-1.18 95% CI, P = 0.009). Multivariate logistic regression analysis indicated that HT was an independent RF for vCI (OR 1.74, 1.09-2.76 95% CI, P = 0.020) and higher Fazekas DS score (OR 1.57, 1.11-2.22 95% CI, P = 0.011). The Kaplan-Meier curve of estimates of survival of SVD patients without vCI revealed a higher proportion of patients with HT progressing to vCI over time when compared to HT-free cases. In patients with sporadic SVD, HT is a contributing factor to worse clinical outcomes and neuroradiological presentation.

Comprehensive Ultrasound Assessment of the Craniocervical Circulation in Transient Global Amnesia.

OBJECTIVES: Structural changes and metabolic stress have been reported on diffusion-weighted magnetic resonance imaging in the cornu ammonis 1 area of the hippocampus in patients with transient global amnesia (TGA), but a consensus on pathogenesis is still lacking. The aim of our study was to perform a comprehensive ultrasound analysis of the cerebrovascular circulation in our population of patients with TGA. METHODS: One hundred patients with TGA and 50 age- and sex-matched control participants underwent ultrasound examinations of the cervicocranial circulation. RESULTS: The most significant risk factor for TGA was arterial hypertension (P < .01). There were no significant atherosclerotic lesions on the large arteries of the neck (mean internal carotid artery stenosis ± SD, 28.7% ± 11.7%) or on the large intracerebral arteries (good structural and hemodynamic status; P > .05). Rarely detected microembolic signals or a right-left cardiopulmonary shunt excluded an emboligenic mechanism of TGA (P > .05). The internal jugular vein valves were incompetent in 54% of patients with TGA, and this condition was associated with an increased risk of TGA (odds ratio, 4.16; 95% confidence interval, 1.91-9.04). The mean values of the breath holding index and pulsatility index, as parameters of small-vessel function, were within normal ranges and without differences between the TGA and control groups (P > .05). CONCLUSIONS: Our ultrasound examination did not detect significant structural atherosclerotic changes of cervicocranial arteries, and an emboligenic mechanism was excluded. Only a significant rise of blood pressure in TGA and significant valvular insufficiency of the internal jugular vein were established. New research should clarify whether these simultaneous functional circulatory changes have relevance for metabolic stress in the cornu ammonis of the hippocampus.

Routine echocardiography in patients with myotonic dystrophy type 1.

BACKGROUND: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant disease. One third of DM1 patients die suddenly, most of them due to the heart conduction abnormalities and arrhythmias. The aim of this study was to analyze echocardiographic findings in a large cohort of DM1 patients. METHODS: This retrospective study comprised 111 patients and 71 healthy controls (HCs) matched for gender and age. RESULTS: Mitral valve (MV) prolapse was observed in 23% of our DM1 patients vs. 8.5% of HCs (p < 0.05). Left ventricle (LV) systolic dysfunction was observed in 6% of patients and none of the HCs (p < 0.05). Frequency of diastolic dysfunction showed no significant difference between DM1 patients and HCs (8.1% vs. 15.5%, p > 0.05). Systolic dysfunction was more common in patients with severe electrocardiographic (ECG) abnormality (18.8% vs. 2.7%, p < 0.01). CONCLUSION: One fourth of DM1 patients have MV prolapse. Approximately 15% of DM1 patients have systolic or diastolic LV dysfunction. These patients should have benefit from medical therapy. Furthermore, it seems that treatment of conduction defects might prevent development of the heart failure (HF).

Cardiologic predictors of sudden death in patients with myotonic dystrophy type 1.

The aim of this study was to analyze survival, causes of death and cardiologic predictors of sudden death in a large cohort of patients with myotonic dystrophy type 1 (DM1). The study was comprised of 171 adult DM1 patients hospitalized at the Neurology Clinic in a 20-year period. Severe electrocardiographic (ECG) abnormality included at least one of the following: rhythm other than sinus, PR interval of ≥240 ms, QRS complex duration of 120 ms or more, and second-degree or third-degree atrioventricular (AV) block. Survival data were analyzed by the Kaplan-Meier test, log-rank test and Cox regression analysis. During the mean follow-up period of 9.4±5.4 years, a pacemaker was implanted in 5.8% of DM1 patients and 14% of patients died. The mean age at death was 55.6±12.5 years. The most common causes of death in our cohort were sudden death (41.7%) and respiratory failure (29.2%). The presence of palpitations (hazard ratio [HR]=4.7, p<0.05) and increased systolic blood pressure (HR=9.8, p<0.05) were significant predictors of sudden death. Among ECG parameters, severe ECG abnormality (HR=4.7, p<0.05), right bundle branch block (RBBB; HR=3.9, p<0.05) and bifascicular block (HR=5.8, p<0.05) were significant predictors of sudden death.

[Incompetence of internal jugular vein valve in patients with transient global amnesia].

BACKGROUND/AIM: Transient global amnesia (TGA) could be related to acute ischemic disturbances in mesial parts of temporal lobes, which are important for memory. Incompetence of internal jugular vein (IJV) valve with venous congestion causes venous microthrombosis of hippocampus. The aim of this study was to investigate the frequency of IJV valve incompetence, as well as other hemodynamic and structural properties of cerebral circulation in TGA patients. METHODS: IJV valve competence was investigated in 40 TGA patients and 30 persons of the control group (matched by age and sex), as well as detection of microembolic signals and detection of right to left cardiopulmonal shunt, cerebral vasomotor reactivity and echocardiography by color triplex ultrasonography and transcranial doppler. RESULTS: A significant difference in frequency of IJV valve incompetence was found between the TGA patients and the control persons (55% TGA vs. 30% controls; p < 0.001). We did not find a significant structural (plaques frequency) or hemodynamic (flow velocity, pulsatility index) differences on arteries of the neck and cerebral arteries between the TGA patients and the controls, except for the increased pulsatility index on the basilar artery (40% TGA vs. 16.6% controls; p < 0.01) and decreased vasomotor reactivity in TGA patients (50% TGA vs 26.6% controls;p < 0.001). Microembolic signals were detected very rarely (17.5% TGA patients vs. 13.3% controls; p > 0.05), as well as right to left cardiopulmonal shunt (15% TGA vs. 16.6% controls; p > 0.05), indicating that embolism was not important for pathogenesis of TGA. Transesophageal echocardiography confirmed it, because only one TGA patient had a potent foramen ovale. CONCLUSION: We found a significantly increased frequency of IJV incompetence in the TGA patients, which confirmed the role of vein drainage disturbances in pathogenesis of TGA.