BACKGROUND: The genetic basis of hypertrophic cardiomyopathy (HCM) is complex, and the relationship between genotype status and clinical outcome is incompletely resolved. METHODS AND RESULTS: We assessed a large international HCM cohort to define in contemporary terms natural history and clinical consequences of genotype. Consecutive patients (n=1468) with established HCM diagnosis underwent genetic testing. Patients with pathogenic (or likely pathogenic) variants were considered genotype positive (G+; n=312; 21%); those without definite disease-causing mutations (n=651; 44%) or variants of uncertain significance (n=505; 35%) were considered genotype negative (G-). Patients were followed up for a median of 7.8 years (interquartile range, 3.5-13.4 years); HCM end points were examined by cumulative event incidence. Over follow-up, 135 (9%) patients died, 33 from a variety of HCM-related causes. After adjusting for age, all-cause and HCM-related mortality did not differ between G- versus G+ patients (hazard ratio [HR], 0.78 [95% CI, 0.46-1.31]; P=0.37; HR, 0.93 [95% CI, 0.38-2.30]; P=0.87, respectively). Adverse event rates, including heart failure progression to class III/IV, heart transplant, or heart failure death, did not differ (G- versus G+) when adjusted for age (HR, 1.20 [95% CI, 0.63-2.26]; P=0.58), nor was genotype independently associated with sudden death event risk (HR, 1.39 [95% CI, 0.88-2.21]; P=0.16). In multivariable analysis, age was the only independent predictor of all-cause and HCM-related mortality, heart failure progression, and sudden death events. CONCLUSIONS: In this large consecutive cohort of patients with HCM, genotype (G+ or G-) was not a predictor of clinical course, including all-cause and HCM-related mortality and risk for heart failure progression or sudden death. G+ status should not be used to dictate clinical management or predict outcome in HCM.
- MeSH
- Time Factors MeSH
- Adult MeSH
- Phenotype MeSH
- Genetic Predisposition to Disease MeSH
- Genetic Testing methods MeSH
- Genotype * MeSH
- Cardiomyopathy, Hypertrophic * genetics mortality diagnosis MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation MeSH
- Death, Sudden, Cardiac etiology epidemiology MeSH
- Prognosis MeSH
- Disease Progression MeSH
- Risk Factors MeSH
- Aged MeSH
- Heart Failure genetics mortality MeSH
- Heart Transplantation MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
This study aimed to derive a new score, the Alcohol Septal Ablation-Sudden Cardiac ARREst (ASA-SCARRE) risk score, that can be easily used to evaluate the risk of sudden cardiac arrest events (sudden cardiac death, resuscitation, or appropriate implantable cardioverter-defibrillator discharge) after alcohol septal ablation (ASA) in patients with hypertrophic obstructive cardiomyopathy. We analyzed 1,834 patients from the Euro-ASA registry (49% men, mean age 57 ± 14 years) who were followed up for 5.0 ± 4.3 years (9,202 patient-years) after ASA. A total of 65 patients (3.5%) experienced sudden cardiac arrest events, translating to 0.72 events per 100 patient-years. The independent predictors of sudden cardiac arrest events were septum thickness before ASA (hazard ratio 1.09 per 1 mm, 95% confidence interval 1.04 to 1.14, p <0.001) and left ventricular outflow tract (LVOT) gradient at the last clinical checkup (hazard ratio 1.01 per 1 mm Hg, 95% confidence interval 1.01 to 1.02, p = 0.002). The following ASA-SCARRE risk scores were derived and independently predicted long-term risk of sudden cardiac arrest events: "0" for both LVOT gradient <30 mmHg and baseline septum thickness <20 mm; "1" for LVOT gradient ≥30 mm Hg or baseline septum thickness ≥20 mm; and "2" for both LVOT gradient ≥30 mm Hg and baseline septum thickness ≥20 mm. The C statistic of the ASA-SCARRE risk score was 0.684 (SE 0.030). In conclusion, the ASA-SCARRE risk score may be a useful and easily available clinical tool to predict risk of sudden cardiac arrest events after ASA in patients with hypertrophic obstructive cardiomyopathy.
- MeSH
- Ablation Techniques * MeSH
- Adult MeSH
- Ethanol therapeutic use MeSH
- Cardiomyopathy, Hypertrophic * complications surgery MeSH
- Cardiac Surgical Procedures * MeSH
- Middle Aged MeSH
- Humans MeSH
- Death, Sudden, Cardiac epidemiology etiology prevention & control MeSH
- Risk Factors MeSH
- Aged MeSH
- Treatment Outcome MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
Pulmonary embolism is a potentially lethal manifestation of venous thromboembolic disease. It is one of the three main causes of cardiovascular morbidity and mortality in developed countries. Over the years, better diagnostic and risk stratification measures were implemented. A generous range of new treatment options is becoming available, particularly for management of massive pulmonary embolism. Nonetheless, clinicians often face uncertainty in clinical practice due to lack of scientific support for available treatment options. The aim of this article is to review management of massive pulmonary embolism.
- Publication type
- Journal Article MeSH
BACKGROUND: Atrioventricular block is a frequent major complication after alcohol septal ablation (ASA). OBJECTIVES: The aim of this study was to evaluate the outcomes of patients with implanted permanent pacemaker (PPM) related to a high-grade atrioventricular block after ASA for hypertrophic obstructive cardiomyopathy. METHODS: We used a multinational registry (the Euro-ASA registry) to evaluate the outcome of patients with PPM after ASA. RESULTS: A total of 1,814 patients were enrolled and followed up for 5.0 ± 4.3 years (median = 4.0 years). A total of 170 (9.4%) patients underwent PPM implantation during the first 30 days after ASA. Using propensity score matching, 139 pairs (n = 278) constituted the matched PPM and non-PPM groups. Between the matched groups, there were no long-term differences in New York Heart Association functional class (1.5 ± 0.7 vs 1.5 ± 0.9, P = 0.99) and survival (log-rank P = 0.47). Patients in the matched PPM group had lower long-term left ventricular (LV) outflow gradient (12 ± 12 mm Hg vs 17 ± 19 mm Hg, P < 0.01), more pronounced LV outflow gradient decrease (81% ± 17% vs 72% ± 35%, P < 0.01), and lower LV ejection fraction (64% ± 8% vs 66% ± 8%, P = 0.02) and were less likely to undergo reintervention (re-ASA or myectomy) (log-rank P = 0.02). CONCLUSIONS: Patients with hypertrophic obstructive cardiomyopathy treated with ASA have a 9% probability of PPM implantation within 30 days after ASA. In long-term follow-up, patients with PPM had similar long-term survival and New York Heart Association functional class but lower LV outflow gradient, a more pronounced LV outflow gradient decrease, a lower LV ejection fraction, and a lower likelihood of reintervention compared with patients without PPM.
- MeSH
- Ablation Techniques * adverse effects MeSH
- Atrioventricular Block * diagnosis etiology therapy MeSH
- Ethanol adverse effects MeSH
- Cardiomyopathy, Hypertrophic * diagnostic imaging surgery MeSH
- Pacemaker, Artificial * MeSH
- Humans MeSH
- Retrospective Studies MeSH
- Heart Septum diagnostic imaging surgery MeSH
- Treatment Outcome MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Introduction: Long-term data on the Lotus® (Boston Scientific, USA) valve are lacking. Aim: To evaluate mid-term outcomes of aortic stenosis patients treated with either Lotus or Evolut R® valves (Medtronic, USA). Material and methods: Our study sample comprised 190 patients (71 Lotus and 119 Evolut valves). The mean clinical follow-up was 2.0 ±0.9 years. Information on mortality was obtained from the National Institutes of Health Information and Statistics. Results: No significant differences existed in baseline characteristics between the groups. The rate of procedural complications was low and without significant differences between groups. The log rank test showed higher mortality in the Lotus group for cardiovascular mortality (p = 0.02; RR = 2.4, 95% CI: 1.123-5.075). Multivariable analysis revealed that the Lotus valve was independently associated with cardiovascular mortality (p = 0.03). At the end of echocardiography follow-up (4.1 ±0.9 years), we found a significantly higher mean aortic valve gradient (AVGm) in the Lotus group than in the Evolut group (17.9 ±9.5 vs. 10.2 ±3.5 mm Hg; p = 0.0006), and 3 (10%) patients from the Lotus group suffered from symptomatic re-stenosis requiering re-intervention. Conclusions: The results of our study suggest that higher cardiovascular mortality rates during mid-term follow-up were associated with Lotus compared with Evolut valves. Higher AVGm in the Lotus valves suggests the possibility of accelerated prosthesis degeneration.
- Publication type
- Journal Article MeSH
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with an estimated prevalence of up to 1 in 200 individuals. In the majority of cases, HCM is considered a Mendelian disease, with mainly autosomal dominant inheritance. Most pathogenic variants are usually detected in genes for sarcomeric proteins. Nowadays, the genetic basis of HCM is believed to be rather complex. Thousands of mutations in more than 60 genes have been described in association with HCM. Nevertheless, screening large numbers of genes results in the identification of many genetic variants of uncertain significance and makes the interpretation of the results difficult. Patients lacking a pathogenic variant are now believed to have non-Mendelian HCM and probably have a better prognosis than patients with sarcomeric pathogenic mutations. Identifying the genetic basis of HCM creates remarkable opportunities to understand how the disease develops, and by extension, how to disrupt the disease progression in the future. The aim of this review is to discuss the brief history and recent advances in the genetics of HCM and the application of molecular genetic testing into common clinical practice.
- MeSH
- Genetic Testing * MeSH
- Cardiomyopathy, Hypertrophic diagnosis genetics MeSH
- Humans MeSH
- Mutation * MeSH
- Sarcomeres genetics MeSH
- Muscle Proteins genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Review MeSH
BACKGROUND: The aim of this study was to evaluate short- and long-term outcomes related to dose of alcohol administered during alcohol septal ablation (ASA) in patients with hypertrophic obstructive cardiomyopathy (HOCM). Current guidelines recommend using 1-3 mL of alcohol administered in the target septal perforator artery, but this recommendation is based more on practical experience of interventionalists rather than on systematic evidence. METHODS: We included 1448 patients and used propensity score to match patients who received a low-dose (1.0-1.9 mL) versus a high-dose (2.0-3.8 mL) of alcohol during ASA. RESULTS: The matched cohort analysis comprised 770 patients (n = 385 in both groups). There was a similar occurrence of 30-day post-procedural adverse events (13% vs. 12%; p = 0.59), and similar all-cause mortality rates (0.8% vs. 0.5%; p = 1) in the low-dose group and the high-dose group, respectively. In the long-term follow-up (5.4 ± 4.5 years), a total of 110 (14%) patients died representing 2.58 deaths and 2.64 deaths per 100 patient-years in the low dose and the high dose group (logrank, p = 0.92), respectively. There were no significant differences in the long-term dyspnea and left ventricular outflow gradient between the two groups. Patients treated with a low-dose of alcohol underwent more subsequent septal reduction procedures (logrank, p = 0.04). CONCLUSIONS: Matched HOCM patients undergoing ASA with a low-dose (1.0-1.9 mL) or a high-dose (2.0-3.8 mL) of alcohol had similar short- and long-term outcomes. A higher rate of repeated septal reduction procedures was observed in the group treated with a low-dose of alcohol.
BACKGROUND: According to European guidelines, alcohol septal ablation (ASA) for hypertrophic obstructive cardiomyopathy (HOCM) may be less effective in patients with extensive septal scarring on cardiac magnetic resonance (CMR). This study aimed to analyze the impact of late gadolinium enhancement (LGE) on CMR on the effectiveness of ASA. METHOD: We conducted an observational retrospective study involving adult patients with symptomatic drug-refractory HOCM who underwent CMR before ASA at two European centres from May 2010 through June 2019. Patients were compared in binary format based on LGE presence. Moreover, a subanalysis focused on patients with septal fibrosis was performed. The effectiveness of ASA was evaluated by echocardiographic, ECG and clinical findings. RESULTS: Of the 113 study patients, 54 (48%) had LGE on CMR. The LGE quantification performed in 29 patients revealed septal fibrosis in 17. The mean follow-up was 4.4 ± 2.6 years. Baseline parameters were similar between groups except for basal septal thickness that was greater in LGE+ group (21.1 ± 3.9 mm for LGE+ vs. 19.2 ± 3.2 mm for LGE-: p = .005). ASA improved symptoms in all groups and reduced left ventricular outflow tract obstruction (LVOTO) (delta gradient reduction: LGE+: 62 ± 37.3%; septal LGE+: 75.6 ± 20.8%; LGE-: 72.5 ± 21.0%). However, 13% of the LGE+ and 2% of the LGE- group had residual LVOTO above 30 mmHg (p = .027). CONCLUSION: ASA was effective in all patients with HOCM, whether they had LGE on CMR or not and whether they had septal fibrosis or not.
Jednostranný plicní edém představuje asi 2 % kardiálních plicních edémů. Etiologie může být velmi různorodá, nicméně nejčastěji se jedná o těžkou mitrální regurgitaci. U většiny pacientů se vyskytuje v pravém horním plicním laloku. Vzhledem k atypické prezentaci bývá zahájení náležité léčby opožděno. Popisujeme případ pacienta s velmi dramatickou a netypickou mechanickou komplikací malého infarktu myokardu, jehož stav byl vstupně chybně hodnocen jako pneumonie. Pacient byl přijat pro rozvoj těžké respirační insuficience, byla zajištěna umělá plicní ventilace a stav vyžadoval zavedení venovenózní extrakorporální membránové oxygenace (VV ECMO). Až následně byla echokardiograficky zjištěna akutní těžká mitrální regurgitace při vlajícím zadním cípu s excentrickým proudem směřujícím k pravostranným plicním žilám. Selektivní koronarografií byla verifikována kritická stenóza ramus circumflexus před odstupem druhého ramus marginalis sinister a byla provedena prostá balonková angioplastika. S odstupem tří dnů byla provedena chirurgická náhrada mitrální chlopně. Cílem článku je popis neobvyklého případu a jeho patofyziologie.
Unilateral pulmonary edema accounts for 2% of cardiogenic pulmonary edemas. Etiology is variable, severe mitral regurgitation being the most common. In the majority of cases, pulmonary edema occurs in the right upper lobe. Due to unusual presentation, the initiation of appropriate treatment tends to be delayed. We present a case of a very dramatic and rare mechanical complication of a small myocardial infarction. The patient’s condition was initially incorrectly described as pneumonia. He was admitted due to severe respiratory insufficiency, his condition required mechanical ventilation, later V-V ECMO was initiated. Afterwards, echocardiography revealed acute severe mitral regurgitation with flail posterior leaflet and eccentric jet directed towards right pulmonary veins. Selective coronarography revealed severe stenosis of the left circumflex artery and plain old balloon angioplasty was performed. Subsequently, surgical valve replacement took place. The objective of this paper is to present an unusual case and its pathophysiology.
- MeSH
- Angioplasty, Balloon, Coronary MeSH
- Heart Valve Prosthesis Implantation MeSH
- Diagnostic Errors MeSH
- Dyspnea etiology MeSH
- Echocardiography MeSH
- Thorax diagnostic imaging MeSH
- Myocardial Infarction complications MeSH
- Coronary Angiography MeSH
- Coronary Stenosis surgery diagnostic imaging pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Mitral Valve surgery diagnostic imaging physiopathology MeSH
- Mitral Valve Insufficiency * diagnostic imaging complications physiopathology MeSH
- Lung diagnostic imaging MeSH
- Pulmonary Edema * etiology MeSH
- Pneumonia diagnostic imaging pathology MeSH
- Tomography, X-Ray Computed MeSH
- Respiratory Insufficiency etiology therapy MeSH
- Heart Rupture pathology MeSH
- Tachycardia, Sinus etiology MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Publication type
- Case Reports MeSH
