News in diagnostics and treament of cardiomyopathies.

Cardiomyopathies are defined as myocardial disorders in which the heart muscle is structurally and functionaly abnormal in the absence of a disease sufficient to cause this abnormality such as coronary artery disease, hypertension, valvular or congenital heart disease. According to the phenotype expresion cardiomyopathies are divided into dilated, hypertrophic, restrictive, arrhytmogenic and unclassified cardiomyopathies (noncompaction and tako-tsubo cardiomyopathy). The same phenotypic expression may include etiologically different forms of the disease, and at the same time phenotypic expression may change in many cardiomyopathies in the course of illness. For each type of cardiomyopathy, we further distinguish the familial (genetic) form and the acquired form. The clinical manifestation of the disease includes symptoms of heart failure, with reduced, mildly reduced or preserved ejection fraction, symptoms resulting from a number of arrhythmias and extracardiac symptoms, but in some cases symptoms may not be presented for a relatively long time. The disease can lead to significant morbidity and mortality if not detected and treated early, especially in young people who are frequently affected. Significant developments in diagnostic and treatment methods have led to an improvement in the prognosis of patients with cardiomyopathies in recent years.

Iron Deficiency in Patients with Advanced Heart Failure.

Background and Objectives: Iron deficiency (ID) is a common comorbidity in patients with heart failure. It is associated with reduced physical performance, frequent hospitalisations for heart failure decompensation, and high cardiovascular and overall mortality. The aim was to determine the prevalence of ID in patients with advanced heart failure on the waiting list for heart transplantation. Methods and Materials: We included 52 patients placed on the waiting list for heart transplantation in 2021 at our centre. The cohort included seven patients with LVAD (left ventricle assist device) as a bridge to transplantation implanted before the time of results collection. In addition to standard tests, the parameters of iron metabolism were monitored. ID was defined as a ferritin value <100 µg/L, or 100−299 µg/L if transferrin saturation (T-sat) is <20%. Results: ID was present in 79% of all subjects, but only in 35% of these patients anaemia was expressed. In the group without LVAD, ID was present in 82%, a median (lower−upper quartile) of ferritin level was 95.4 (62.2−152.1) µg/mL and mean T-sat was 0.18 ± 0.09. In LVAD group, ID was present in 57%, ferritin level was 268 (106−368) µg/mL and mean T-sat was 0.14 ± 0.04. Haemoglobin concentration was the same in patients with or without ID (133 ± 16) vs. (133 ± 23). ID was not associated with anaemia defined with regard to patient's gender. In 40.5% of cases, iron deficiency was accompanied by chronic renal insufficiency, compared to 12.5% of the patients without ID. In the patients with LVAD, ID was present in four out of seven patients, but the group was too small for reliable statistical testing due to low statistical power. Conclusions: ID was present in the majority of patients with advanced heart failure and was not always accompanied by anaemia and renal insufficiency. Research on optimal markers for the diagnosis of iron deficiency, especially for specific groups of patients with heart failure, is still ongoing.

Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.

AIMS: Fabry disease (FD) is a rare X-linked genetic disorder caused by α-galactosidase A (AGALA) deficiency. Whereas 'classic' variant has multisystemic manifestation, the more recently described 'later-onset' variant is characterized by predominant cardiac involvement that often mimics hypertrophic cardiomyopathy (HCM). METHODS AND RESULTS: Consecutive unrelated patients with HCM were screened for FD in 16 (out of 17) cardiac centres in the Czech Republic covering specialized cardiology care from June 2017 to December 2018. AGALA activity and globotriaosylsphingosine (lyso-Gb3 ) levels were measured in all subjects using the dry blood spot method. FD was suspected in male patients with AGALA activity <1.2 µmol/h/L and in females with either low AGALA activity or lyso-Gb3  > 3.5 ng/mL. Positive screening results were confirmed by genetic testing. We evaluated 589 patients (390 males, 66%) with HCM (mean maximal myocardial thickness 19.1 ± 4.3 mm). The average age was 58.4 ± 14.7 years. In total, 17 patients (11 males, 6 females) had a positive screening result, and subsequently, six of them (four males and two females) had a genetically confirmed pathogenic GLA mutation (total prevalence of 1.02%). Five of these patients were carrying the p.N215S mutation known to cause a typical later-onset cardiac FD. CONCLUSIONS: We confirmed the prevalence of FD repeatedly reported in previous screening programmes (approximately 1% irrespective of gender) in a non-selected HCM population in Central Europe. Our findings advocate a routine screening for FD in all adult patients with HCM phenotype including both genders. The dry blood spot method used led to identification of clearly pathogenic variants.

Screening and Risk Stratification Strategy Reduced Decompression Sickness Occurrence in Divers With Patent Foramen Ovale.

OBJECTIVES: This paper sought to evaluate the occurrence of decompression sickness (DCS) after the application of a patent foramen ovale (PFO) screening and risk stratification strategy. BACKGROUND: PFO is associated with an increased risk of DCS. Recently, transcatheter closure was reported to reduce DCS occurrence in divers with a high-grade shunt. However, to date, there are no data regarding the effectiveness of any PFO screening and risk stratification strategy for divers. METHODS: A total of 829 consecutive divers (age 35.4 ± 10.0 years, 81.5% men) were screened for PFO by means of transcranial color-coded sonography in the DIVE-PFO (Decompression Illness Prevention in Divers with a Patent Foramen Ovale) registry. Divers with a high-grade PFO were offered either catheter-based PFO closure (the closure group) or advised conservative diving (high grades). Divers with a low-grade shunt were advised conservative diving (low grades), whereas those with no PFO continued unrestricted diving (controls). A telephone follow-up was performed. To study the effect of the screening and risk stratification strategy, DCS occurrence before enrollment and during the follow-up was compared. RESULTS: Follow-up was available for 748 (90%) divers. Seven hundred and 2 divers continued diving and were included in the analysis (mean follow-up 6.5 ± 3.5 years). The DCS incidence decreased significantly in all groups, except the controls. During follow-up, there were no DCS events in the closure group; DCS incidence was similar to the controls in the low-grade group (HR: 3.965; 95% CI: 0.558-28.18; P = 0.169) but remained higher in the high-grade group (HR: 26.170; 95% CI: 5.797-118.160; P < 0.0001). CONCLUSIONS: The screening and risk stratification strategy using transcranial color-coded sonography was associated with a decrease in DCS occurrence in divers with PFO. Catheter-based PFO closure was associated with a DCS occurrence similar to the controls; the conservative strategy had a similar effect in the low-grade group, but in the high-grade group the DCS incidence remained higher than in all other groups.

High-grade patent foramen ovale is a risk factor of unprovoked decompression sickness in recreational divers.

BACKGROUND: Patent foramen ovale (PFO), male sex, age, and body mass index (BMI) were all identified as potential risk factors of decompression sickness (DCS). It has been debated whether PFO might cause unprovoked DCS (i.e. without violation of decompression procedure) due to paradoxical embolization of venous gas emboli. To date, there are no data on the incidence or risk factors of unprovoked DCS. This study sought to evaluate the risk factors of unprovoked DCS in recreational divers. METHODS: A total of 489 consecutive divers were screened for PFO between January 2006 and January 2014 by means of transcranial Doppler. All patients were prospectively included in the study registry. Survival analysis techniques were used to assess for risk factors for unprovoked DCS. Age, sex, BMI, PFO presence, and grade were analyzed. The total sum of dives was used as a measure of time. RESULTS: The group performed a total of 169,411 dives (mean 346±636). Thirty-six (7%) of the divers suffered from an unprovoked DCS. The frequency of PFO was 97.2% in divers with a history of unprovoked DCS and 35.5% in controls (p<0.001). There was no difference in sex, age, BMI, or total number of dives between the respective groups. In the adjusted Cox proportional hazards model, PFO grade 3 was a major risk factor for unprovoked DCS; there was a slight protective effect of increasing age. CONCLUSIONS: We demonstrated that a high-grade PFO was a major risk factor for unprovoked DCS in recreational scuba divers.

[Heart transplantation and infection]. / Transplantace srdce a infekce.

Heart transplantation (HTx) is a method of treatment for patients with end-stage heart failure with severe symptoms despite complex therapy. Post-transplant difficulties include acute rejection and infectious complications, which are the most common reason of morbidity and mortality in the first year after heart transplant. It requires the patient to remain on immunosuppressive medication to avoid the possibility of graft rejection. Therefore the range of infection is much larger. The diagnosis and treatment of viral, bacterial and fungal infections is often difficult.Key words: heart transplantation - immunosuppression - infection.

Patent Foramen Ovale in Recreational and Professional Divers: An Important and Largely Unrecognized Problem.

Patent foramen ovale (PFO) is associated with an increased risk of decompression sickness (DCS) in divers that results from a paradoxical embolization of nitrogen bubbles. The number of scuba divers worldwide is estimated in the millions, and the prevalence of PFO is 25%-30% in adults. It is interesting that despite these numbers, many important issues regarding optimal screening, risk stratification, and management strategy still remain to be resolved. Recently published data suggest the possible effectiveness of both PFO closure and conservative diving measures in preventing arterial gas embolization. This review aims to introduce the basic principles of physiology and the pathophysiology of bubble formation and DCS, summarize the current literature on PFO and diving, and review the possibilities of diagnostic workup and management.

Survival of patients ≤ 50 years of age after alcohol septal ablation for hypertrophic obstructive cardiomyopathy.

BACKGROUND: The long-term efficacy and safety of alcohol septal ablation (ASA) has recently been demonstrated. However, there is still debate about the outcome of younger patients who should be treated using myectomy, according to American College of Cardiology Foundation/American Heart Association guidelines. The aim of this study was to evaluate the long-term outcome of patients ≤ 50 years of age after ASA for hypertrophic obstructive cardiomyopathy (HOCM). METHODS: We retrospectively evaluated consecutive, highly symptomatic patients aged ≤ 50 years with HOCM who underwent ASA. RESULTS: Institutional databases of 3 cardiovascular centres identified 290 patients with HOCM who underwent ASA; 75 (26%) of them were aged ≤ 50 years at the time of their first ASA. Median duration of follow-up was 5.1 years (range, 0.1-15.4 years). Four patients (5%) died during the study period (438 patient-years; the annual mortality rate was 0.91%; 95% confidence interval [CI], 0.25-2.34%; the annual mortality rate combined with the first appropriate implantable cardioverter-defibrillator discharge was 1.43%; 95% CI, 0.52-3.10%). Survival free of all-cause mortality at 1, 5, and 10 years was 97% (95% CI, 89-99%), 94% (95% CI, 84-98%), and 94% (95% CI, 84-98%), respectively. CONCLUSIONS: Results of this first study focused on HOCM patients aged ≤ 50 years who underwent ASA suggest a low risk of all-cause death or appropriate implantable cardioverter-defibrillator discharge in the long-term follow-up.

Effect of catheter-based patent foramen ovale closure on the occurrence of arterial bubbles in scuba divers.

OBJECTIVES: This study sought to evaluate the effect of catheter-based patent foramen ovale (PFO) closure on the occurrence of arterial bubbles after simulated dives. BACKGROUND: PFO is a risk factor of decompression sickness in divers due to paradoxical embolization of bubbles. To date, the effectiveness of catheter-based PFO closure in the reduction of arterial bubbles has not been demonstrated. METHODS: A total of 47 divers (age 35.4 ± 8.6 years, 81% men) with a PFO (PFO group) or treated with a catheter-based PFO closure (closure group) were enrolled in this case-controlled observational trial. All divers were examined after a simulated dive in a hyperbaric chamber: 34 divers (19 in the PFO group, 15 in the closure group) performed a dive to 18 m for 80 min, and 13 divers (8 in the PFO group, 5 in the closure group) performed a dive to 50 m for 20 min. Within 60 min after surfacing, the presence of venous and arterial bubbles was assessed by transthoracic echocardiography and transcranial color-coded sonography, respectively. RESULTS: After the 18-m dive, venous bubbles were detected in 74% of divers in the PFO group versus 80% in the closure group (p = 1.0), and arterial bubbles were detected in 32% versus 0%, respectively (p = 0.02). After the 50-m dive, venous bubbles were detected in 88% versus 100%, respectively (p = 1.0), and arterial bubbles were detected in 88% versus 0%, respectively (p < 0.01). CONCLUSIONS: No difference was observed in the occurrence of venous bubbles between the PFO and closure groups, but the catheter-based PFO closure led to complete elimination of arterial bubbles after simulated dives. (Nitrogen Bubble Detection After Simulated Dives in Divers With PFO and After PFO Closure; NCT01854281).

Effects of neuromuscular electrical stimulation and aerobic exercise training on arterial stiffness and autonomic functions in patients with chronic heart failure.

Neuromuscular electrical stimulation (NMES) of leg muscles has been introduced in clinical practice as a rehabilitation (RHB) method in patients with chronic heart failure (CHF); however, the role of NMES on the reduction of arterial stiffness and autonomic disbalance in these patients has not yet been studied. Sixty-one patients with stable CHF (mean age 58.9 [2.1] years; mean ejection fraction 31 [4.2]%, New York Heart Association II-III) were randomly assigned into two groups. Patients in (i) exercise training group (ET; n = 30) underwent 12 weeks of bicycle ET (3 × 40 min/week); (ii) group NMES (n = 31) performed 12 weeks of NMES of quadriceps and calf muscles (frequency 10 Hz, mode "20 s on-20 s off," intensity 60 mA), 2 × 60 min/day. Noninvasive assessment of arterial stiffness was done using the cardio-ankle vascular index (CAVI). CAVI and heart rate variability (HRV) and ·VO(2peak) were evaluated before and after RHB program. Both types of RHB reduced significantly CAVI (ET from 9.6 [0.2] to 8.9 [0.2], P < 0.012; NMES from 9.3 [0.2] to 8.7 [0.2], P < 0.013), increased high frequency (HF) component of HRV (+65.6%; P = 0.001) and decreased ratio of low frequency (LF) component with HF component (LF/HF ratio) in group ET (-39.8%; P < 0.001). Changes of HRV parameters in group NMES were not significant; however, a marked tendency to autonomic stabilization was present. Both types of RHB led also to significant increase of ·VO(2peak) (ET from 18.7 [0.7] to 20.8 [0.7] mL/kg/min, P < 0.004; NMES from 17.3 [0.7] to 19.0 [0.7] mL/kg/min, P < 0.001). ET or NMES has been shown to improve significantly arterial stiffness and to stabilize autonomic balance.

Alcohol septal ablation for hypertrophic obstructive cardiomyopathy: Lower alcohol dose reduces size of infarction and has comparable hemodynamic and clinical outcome.

Patients with highly symptomatic hypertrophic obstructive cardiomyopathy (HOCM) are considered to be good candidates for percutaneous transluminal septal myocardial ablation (PTSMA). However, there is ongoing discussion regarding the optimal dose of alcohol injected into target septal artery and the impact of infarct sizes on the clinical and hemodynamic outcome. Thirty-four patients with symptomatic HOCM receiving maximum medical therapy were consecutively enrolled. Patients were randomized in a 1:1 ratio into one of the two arms according to dose of injected alcohol during echocardiography-guided PTSMA procedure. Clinical, electrocardiographic, and echocardiographic evaluation were performed 6 months after the procedure in all the patients. Both groups of patients matched in all clinical and echocardiographic data. The dose of alcohol injected was 1.6 +/- 0.4 and 3.4 +/- 0.9 (P < 0.001) with subsequent peak of CK-MB 1.9 and 3.2 microkat/L (P < 0.05) in group A and B, respectively. There was a correlation between amount of injected alcohol and the peak of CK-MB (r = 0.58; P < 0.01), whereas no significant relationship (r = 0.16; P = NS) was documented between the peak of CK-MB and left ventricular outflow gradient at follow-up. At 6-month follow-up, both groups of patients were not significantly different with regard to symptoms or electrocardiographic and echocardiographic findings. In conclusion, this study suggests that the low dose (1- 2 ml) of alcohol injected into target septal branch reduces size of necrosis. Moreover, the low dose is probably as safe and efficacious as usually used doses (2-4 ml).

Treatment of recurrent coronary rupture by implantation of three coronary stent-grafts.

The authors report a case of recurrent left anterior descending artery rupture during coronary interventions in a 70-year-old man. Coronary artery rupture was treated successfully by percutaneous coronary stent-graft implantation. Based on this experience, the authors advise against repeat angioplasty of a coronary artery which has ruptured during a prior intervention. Membrane-covered stents should be the first choice in the treatment of life-threatening coronary artery rupture.

Early remodelling of left ventricle and improvement of myocardial performance in patients after percutaneous transluminal septal myocardial ablation for hypertrophic obstructive cardiomyopathy.

BACKGROUND: Percutaneous transluminal septal myocardial ablation (PTSMA) reduces left ventricular outflow (LVOT) gradient in patients with hypertrophic obstructive cardiomyopathy (HOCM) and leads to symptomatic improvement. Effects of PTSMA on left ventricular performance are currently unknown. The purpose of this study was to evaluate changes in the left ventricular performance using Doppler index of myocardial performance (sum of isovolumic contractile and relaxation times divided by left ventricular ejection time) and left ventricular remodelling after PTSMA for HOCM. METHODS: Twenty-five patients with symptomatic HOCM underwent echocardiography-guided PTSMA procedure. Clinical and echocardiographic data were collected at baseline and 3 months after PTSMA. RESULTS: PTSMA procedures were uneventful, in one patient (4%), pacemaker implantation was needed for sustained complete heart block after the procedure. At 3-month follow-up, the maximal LVOT gradient decreased from 68+/-39 to 18.6+/-12 mmHg (P<0.001), the provoked maximal LVOT gradient decreased from 128.8+/-59 to 25+/-21.4 mmHg (P<0.001), and basal septal thickness decreased from 21.7+/-4 to 15.2+/-3 mm (P<0.001). The improvement of the index of myocardial performance (from 0.65+/-7 to 0.56+/-11; P<0.001) was associated with neither significant change in left ventricular ejection fraction nor left ventricular ejection time. There was no significant difference in the left ventricular dimension at baseline and at follow-up. All patients reported a significant improvement in symptoms at follow-up, the mean NYHA class decreased from 2.6+/-0.7 to 1.4+/-0.7 (P<0.001), and the number of patients suffering from episodes of syncope or attacks of dizziness decreased from 13 to two during the 3-month follow-up. CONCLUSIONS: PTSMA is a safe, effective and reproducible method in the treatment of highly symptomatic patients with HOCM. This procedure results in a significant relief of symptoms associated with decrease in LVOT gradient and thickness of basal interventricular septum. Positive changes in Doppler IMP suggest possible improvement of left ventricular function.

Relationship of C-reactive protein to presence and severity of coronary atherosclerosis in patients with stable angina pectoris or a pathological exercise test.

BACKGROUND: C-reactive protein (CRP) level is a sensitive marker of inflammation and a probable predictor of cardiovascular risk. The aim of this study was to assess the relationship between the presence and the extent of coronary atherosclerosis and CRP level in patients referred for coronary angiography for stable angina pectoris or a pathological exercise test. PATIENTS AND METHODS: A group of 200 patients were prospectively analyzed for the relationship between the presence and extent of coronary atherosclerosis and high-sensitivity CRP. Patients with stable angina pectoris or a pathological exercise test were included. RESULTS: For the whole group the CRP geometric mean was 2.92 mg/l and the median 3.0 mg/l. There was no difference between groups of patients with different extents of coronary lesions (P = 0.320, one-way analysis of variance). In patients without significant coronary disease the CRP geometric mean was 3.1 (2.28-4.21) mg/l with a variation coefficient of 118.4%; in patients with coronary artery disease the geometric mean was 2.83 (2.34-3.43) mg/l with a variation coefficient of 104.0%. The difference in CRP between both groups was not significant (P = 0.601). There was also no significant difference in CRP levels between groups of patients with and without a history of myocardial infarction (2.65 (2.08-3.36) mg/l and 3.18 (2.54-3.98) mg/l, P = 0.266) respectively. There was no correlation between the classification of angina pectoris and the logarithm of CRP level (P = 0.331). This relationship was not confirmed even in the group of patients with significant coronary artery disease (P = 0.693). CONCLUSIONS: CRP level is not related to the extent or the presence of coronary atherosclerosis assessed by coronary angiography, history of myocardial infarction or class of stable angina pectoris in patients referred for coronary angiography for stable angina pectoris or a pathological exercise test.