Materiały źródłowe

• #1 Follow-up and prognosis of HCM

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6209454/

  According to its relatively high prevalence (1/500 in general population, the highest for an inherited heart disease) and the low global incidence of complications, the general prognosis of a HCM patient is generally good and it is commonly regarded as a benign disease. Thus, two thirds of patients with HCM present a normal life span without significant morbidity. A recent series reviewed HCM mortality rates and described a 0.7%/year HCM-related mortality rate and a 1.1%/year rate for HCM-unrelated causes of death. Most of the herein commented complications arise in patients at high risk of SCD or HF, many of these with severe LVOTO. […] Age has historically been warranted as a modulator of the outcomes in HCM patients. Notably, clinically stable patients who achieve the age of 60 years experience a subsequent clinical course with a particularly low SCD event rate (0.2%/year). A younger age at diagnosis has been thought to portend a reduced life expectancy and limited effective treatment options in the literature.

• #2 Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5607340/

  Hypertrophic cardiomyopathy (HCM) is a clinically and genetically heterogeneous disorder but data on survival rates are still conflicting and have not so far been quantitatively reviewed. The aim of this study is to conduct a meta-analysis of cohort studies to assess pooled survival rates and prognostic factors for survival in patients with HCM. Nineteen studies were included representing 12,146 HCM patients. The pooled 1-, 3-, 5- and 10-year survival rates were 98.0%, 94.3%, 82.2% and 75.0%, respectively. Among patients with HCM, age, NYHA functional class, family history of sudden death (FHSD), syncope, atrial fibrillation, non-sustained ventricular tachycardia (nsVT), maximum left ventricular wall thickness and obstruction were significant prognostic factors for cardiovascular death. For sudden cardiac death, FHSD, nsVT, and obstruction showed significant predictive values. Moreover, estimation of population attributable risk (PAR) suggested that nsVT was the strongest predictor for cardiovascular death (13.02%, 95% CI 3.6025.91%), while left ventricular outflow tract obstruction/mid-ventricular obstruction (LVO/MVO) was the strongest predictor for all-cause death and sudden cardiac death (10.09%, 95% CI 4.7220.42% and 16.44%, 95% CI 7.4531.55%, respectively). These risk factors may thus be useful for identifying HCM patients who might benefit from early diagnosis and therapeutic interventions.

• #3 Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5607340/

  The pooled 1-, 3-, and 5-year survival rates were 98.0% (95% CI 97.498.6%), 94.3% (95% CI 93.195.6%) and 82.2% (95% CI 75.289.2%), respectively. […] The main results of our analysis show that the pooled 1-, 3-, 5- and 10-year survival rates in the whole population were 98.0% (95% CI 97.498.6%), 94.3% (95% CI 93.195.6%), 82.2% (95% CI 75.289.2%) and 75.0% (95% CI 71.178.9%), respectively. […] The currently accepted risk predictors for sudden cardiac death as an indication for primary prevention with implantable cardioverter defibrillators (ICDs) include family history of HCM-related sudden cardiac death, unexplained recent syncope, large left ventricular wall thickness (MLVWT30 mm), multiple bursts of nsVT on ambulatory electrocardiography, and hypotensive or attenuated blood pressure response to exercise.

• #4 Application of the ALBI Scoring System for Mortality Outcome Prediction in Patients with Hypertrophic Cardiomyopathy | Global Heart

  https://globalheartjournal.com/articles/10.5334/gh.1163

  Higher ALBI score is a strong independent predictor of HCM-related death in patients with HCM. […] Overall, there was a significant positive association between ALBI score and HCM-related death (adjusted hazard ratio [HR]: 1.79 per one standard deviation [SD] increment, 95% confidence interval [CI]: 1.362.35). […] The overall mortality rate was 2.4 (95% CI: 1.83.1) per 100 PYs. […] When ALBI score was assessed as tertiles, Kaplan-Meier curve showed the clinical course of HCM-related death was significantly worse in the higher tertile (log-rank p 0.001). […] The results showed higher ALBI score could predict HCM-related death. […] The potential mechanisms of ALBI score predicting HCM-related death may include multiple pathogenetic processes associated with HCM-related adverse outcome, including inflammation, myocardial injury, nutritional status and some clinical characteristics, but not abnormal cardiac structure and function itself.

• #5 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/152913-overview

  Reported annual mortality rates in patients with hypertrophic cardiomyopathy (HCM) have ranged from less than 1% to 3-6%, and studies suggest that they have significantly improved over the past 40 years. […] A study by Elliott et al reported that published sudden death rates over the previous 10 years were lower than were previously published figures (median 1.0% (range 0.11.7) v 2.0% (03.5)). Nevertheless, HCM still carries a high risk for mortality and morbidity. […] Most patients with HCM are asymptomatic. Unfortunately, the first clinical manifestation of the disease in such individuals may be sudden death, likely from ventricular tachycardia or fibrillation. Younger patients, particularly children, have a much higher mortality rate. […] The more benign mutations do not elicit a clinical or echocardiographic phenotype or symptoms in the pediatric population. Death often is sudden, unexpected, and typically is associated with sports or vigorous exertion. Early diagnosis is of prime importance in order to prescribe an appropriate level of safe activity.

• #6 Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis | Scientific Reports

  https://www.nature.com/articles/s41598-017-12289-4

  Hypertrophic cardiomyopathy (HCM) is a clinically and genetically heterogeneous disorder but data on survival rates are still conflicting and have not so far been quantitatively reviewed. The aim of this study is to conduct a meta-analysis of cohort studies to assess pooled survival rates and prognostic factors for survival in patients with HCM. Nineteen studies were included representing 12,146 HCM patients. The pooled 1-, 3-, 5- and 10-year survival rates were 98.0%, 94.3%, 82.2% and 75.0%, respectively. Among patients with HCM, age, NYHA functional class, family history of sudden death (FHSD), syncope, atrial fibrillation, non-sustained ventricular tachycardia (nsVT), maximum left ventricular wall thickness and obstruction were significant prognostic factors for cardiovascular death. For sudden cardiac death, FHSD, nsVT, and obstruction showed significant predictive values. Moreover, estimation of population attributable risk (PAR) suggested that nsVT was the strongest predictor for cardiovascular death (13.02%, 95% CI 3.6025.91%), while left ventricular outflow tract obstruction/mid-ventricular obstruction (LVO/MVO) was the strongest predictor for all-cause death and sudden cardiac death (10.09%, 95% CI 4.7220.42% and 16.44%, 95% CI 7.4531.55%, respectively). These risk factors may thus be useful for identifying HCM patients who might benefit from early diagnosis and therapeutic interventions.

• #7 Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC5607340/

  In our study, FHSD, recent syncope, MLVWT and obstruction (including left outflow obstruction and midventricular obstruction) showed significant correlation with all-cause death, cardiovascular death and sudden cardiac death, whereas abnormal blood pressure response to exercise was not significantly related to all-cause or cardiovascular death. […] FHSD showed strong predictive power for cardiovascular death and sudden cardiac death (HR=2.38 and 2.34, respectively), but no significant correlation with all-cause death was observed. […] Large wall thickness (MWTh) 30 mm and non-sustained ventricular tachycardia in Holter monitoring of electrocardiography also appeared to be important prognostic factors in both cardiovascular death and sudden cardiac death. […] Results of our analysis showed nsVT and obstruction were two of the most important risk predictors for cardiovascular death (HR=2.46 and 1.52) and sudden cardiac death (HR=2.92 and 2.41). […] Advanced heart failure (NYHA III/IV) was reported as an independent predictor of cardiovascular mortality in end-stage HCM, as patients with heart failure at diagnosis showed a trend toward more frequent adverse outcomes, probably because they had more advanced disease.

• #8 Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy | Genetics in Medicine

  https://www.nature.com/articles/gim201344

  Family history is a key clinical predictor of a positive genetic diagnosis and has direct clinical relevance, particularly in the pretest genetic counseling setting. […] Family history of disease was found to be an important predictor, with 102 (72%) probands with an established family history of HCM receiving a positive genetic result, as compared with 36 (29%) probands with no family history (P0.0001). In those probands with a family history of HCM, those who also had a positive family history of SCD were significantly more likely to have a mutation identified (89 vs. 59%, P0.0001). […] The key clinical predictor of a positive genetic result was found to be an established family history of HCM. […] These findings have direct clinical relevance for informing patients about their specific individual likelihood for identification of an HCM-causing gene mutation on the basis of their family history.

• #9 Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis | Scientific Reports

  https://www.nature.com/articles/s41598-017-12289-4

  Prognostic factors for survival in HCM patients have also been assessed in several studies and were recently reviewed. It is important to identify such factors in order to ensure optimal care and facilitate appropriate monitoring. However, there are marked discrepancies among studies focused on HCM, and there is a lack of consensus on factors that best predict mortality in idiopathic HCM. […] The currently accepted risk predictors for sudden cardiac death as an indication for primary prevention with implantable cardioverter defibrillators (ICDs) include family history of HCM-related sudden cardiac death, unexplained recent syncope, large left ventricular wall thickness (MLVWT30 mm), multiple bursts of nsVT on ambulatory electrocardiography, and hypotensive or attenuated blood pressure response to exercise. In our study, FHSD, recent syncope, MLVWT and obstruction (including left outflow obstruction and midventricular obstruction) showed significant correlation with all-cause death, cardiovascular death and sudden cardiac death, whereas abnormal blood pressure response to exercise was not significantly related to all-cause or cardiovascular death.

• #10 Follow-up and prognosis of HCM

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6209454/

  Apical aneurysms are found in 58% of HCM patients, who exhibit a poorer prognosis. […] NSVT are registered during holter monitoring in 20-30% of HCM patients and were included in the current ESC proposal of HCM risk stratification as 3 consecutive ventricular beats at 120 BPM lasting 30 seconds. […] With respect to prognosis in any cardiomyopathy the presence and magnitude of myocardial fibrosis (or LGE in cardiac MRI) has been a trending topic in the past 10 years. […] Diastolic dysfunction promotes adverse remodeling over time in HCM patients. […] Systolic dysfunction is regarded as a clear marker of adverse prognosis in HCM patients. […] Autonomic dysfunction in HCM patients precedes systolic dysfunction and so may play a role in its genesis, can be depicted by nuclear medicine studies assessing the pre-synaptic level and could represent a future therapeutic target to improve outcomes.

• #11 Focus on echocardiography in hypertrophic cardiomyopathy – fourth in series

  https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-13/Focus-on-echocardiography-in-hypertrophic-cardiomyopathy-third-in-series

  Echocardiography is an invaluable tool in the diagnosis, prognosis, management strategy and follow-up of patients with HCM. […] LA volume has been found to be a long-term independent indicator of functional capacity and an LA volume index of 34 ml/m2 has been shown to be predictive of a greater degree of LVH, severity of diastolic dysfunction, and adverse cardiovascular outcomes. […] Deterioration of systolic function has also been associated with increased mortality (up to 11% per year) and sudden cardiac death. […] Several echocardiographic parameters given below are also important for prediction of unfavourable outcomes in HCM patients. […] Sudden death: maximal wall thickness 30mm […] HCM related death: LVOT gradient at rest 30mmHg, EF 50% […] All-cause mortality: left atrial diameter 48mm

• #12 Follow-up and prognosis of HCM

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6209454/

  A number of studies have proved a significant association of the LVOT maximal gradient with an increased risk of SCD, as cited in the current guidelines. […] Pulmonary artery systolic pressure (PASP) over 36 mmHg is one of the features of end-stage HCM. […] Several plasmatic biomarkers have been analyzed aiming to predict prognosis in HCM patients. A high hsCRP concentration associated to more adverse events and it was replicated when considered as a continuous variable. NT-proBNP concentration independently predicted all-cause mortality or cardiac transplantation being a serum concentration of 135 pmol/L associated with an annual event rate of 6.1%.

• #13 Focus on echocardiography in hypertrophic cardiomyopathy – fourth in series

  https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-13/Focus-on-echocardiography-in-hypertrophic-cardiomyopathy-third-in-series

  Heart failure development: LA volume of 27ml/m2 at baseline during follow-up […] Intraventricular dyssynchrony: 45. […] The prevalence and degree of LV dyssynchrony was significantly greater in patients with HCM compared with hypertensive LVH and age-matched control patients. […] Another study of 123 patients with HCM found that an intraventricular delay of 45 ms predicted an increased risk for ventricular tachyarrhythmias and sudden cardiac death at five-year follow-up (85.5% sensitivity; 90.4% specificity; positive predictive value: 66.9%; negative predictive value: 96.7%; test accuracy: 88.8%).

• #14 Application of the ALBI Scoring System for Mortality Outcome Prediction in Patients with Hypertrophic Cardiomyopathy | Global Heart

  https://globalheartjournal.com/articles/10.5334/gh.1163

  Therefore, these features support the validity of our findings. […] The mechanisms underlying the association between ALBI score and HCM-related death are not clearly determined. […] In summary, higher ALBI score is a strong independent predictor of HCM-related death, and the patients with higher ALBI score may warrant closer follow-up and more aggressive therapy with hopefully prevention of events in the future.

• #15

  https://link.springer.com/article/10.1007/s00392-023-02371-5

  Whether heart failure with preserved ejection fraction (HFpEF) is associated with an increased risk of developing systolic dysfunction and a poor prognosis in hypertrophic cardiomyopathy (HCM) patients is unknown. […] We aimed to assess risk factors for the development of end-stage (ES) heart failure (HF) (ejection fraction50%) and compare the prognosis of different HF phenotypes. […] During the median follow-up period of 4.0 years (IQR 1.49.4 years), patients with HCM-HFpEF exhibited a higher incidence of ES-HF than those with HCM-non-HF (12.4% vs. 2.7%, P0.001). […] HFpEF was an independent risk factor for ES-HF development (HR 3.84, 2.545.80, P0.001). […] MACEs occurred in 26.9% with a higher incidence in HCM-HFpEF than HCM-non-HF (36.6% vs 12.2%, P0.001). […] HFpEF was an independent predictor of MACEs (HR 2.13, 1.752.59, P0.001).

• #16

  https://link.springer.com/article/10.1007/s00392-023-02371-5

  HFpEF is common in HCM. Compared to non-HF, it increases the risk of LVEF decline and poor prognosis. It may aid in risk stratification and need close echocardiography follow-up. […] Patients diagnosed with HCM-HFpEF had a higher risk of developing ES-HF and a poorer prognosis when compared to those with HCM-non-HF. […] On multivariable analysis, HFpEF was significantly associated with the future development of ES-HF. […] Our study demonstrated that patients with HCM-HFpEF had a 2.13-fold increased risk of MACEs compared to those without HF, while patients with HCM-HFrEF had a similar (2.67-fold) increased risk of MACEs compared to those without HF.

• #17 :: JKMS :: Journal of Korean Medical Science

  https://jkms.org/DOIx.php?id=10.3346/jkms.2024.39.e313

  Genetic testing is helpful in diagnosing HCM, and sarcomere gene mutations in HCM are significantly associated with clinical outcomes. […] Kaplan-Meier curve analysis showed that genotype-positive HCM patients experienced more composite outcomes (log-rank, P<0.001). [...] In multivariable Cox analysis, non-sustained ventricular tachycardia (NSVT) (hazard ratio [HR], 1.91; 95% confidence interval [CI], 1.17-3.12; P=0.010), left ventricular ejection fraction (LVEF) 50% (HR, 5.50; 95% CI, 2.68-11.27; P<0.001), LA reservoir strain (HR, 0.96; 95% CI, 0.93-0.99; P=0.037), and positive sarcomere gene mutation (HR, 1.70; 95% CI, 1.04-2.78; P=0.034) were significantly associated with composite outcomes. [...] During 5.9 ± 4.7 years, composite clinical outcomes occurred in 86 (19.2%) patients with HCM. These outcomes were significantly more frequent in patients with genotype-positive HCM compared to those with genotype-negative HCM (28.0%, [n = 51] vs. 13.2%, [n = 35], P=0.001).

• #18 :: JKMS :: Journal of Korean Medical Science

  https://jkms.org/DOIx.php?id=10.3346/jkms.2024.39.e313

  The specific outcomes included HF-related admission (13.2%, [n = 24] vs. 5.3%, [n = 14], P=0.006) and appropriate ICD shocks (8.2%, [n = 15] vs. 2.6%, [n = 7], P=0.014). […] Kaplan-Meier curve analysis revealed that patients with genotype-positive HCM experienced significantly more composite outcomes (log-rank test, P<0.001) than patients with genotype-negative HCM. [...] Sarcomere gene mutation results had incremental value for predicting the clinical outcomes over maximal LVWT 30 mm, NSVT, and LVEF 50% when analyzed using the likelihood ratio test for Cox models.

• #19 Prognosis of Patients with Hypertrophic Obstructive Cardiomyopathy: A Multicenter Cohort Study with Data-Driven Propensity Score Matching Analysis

  https://www.imrpress.com/journal/RCM/24/9/10.31083/j.rcm2409267/htm

  Prognosis of Patients with Hypertrophic Obstructive Cardiomyopathy: A Multicenter Cohort Study with Data-Driven Propensity Score Matching Analysis […] Background: Hypertrophic obstructive cardiomyopathy (HOCM) patients are reported to have a potential risk of sudden cardiac death (SCD); however, HCM with left ventricular outflow tract (LVOT) obstruction, which is regarded as a risk indicator of SCD, is doubtful since the LVOT gradient is dynamic and may be confounded by various environmental factors and routine activities. The purpose of this study was to explore the clinical prognosis of HOCM through a multicenter cohort study with data-driven propensity score matching (PSM) analysis. […] Previous studies have shown that HOCM is an independent predictor of poor prognosis in patients with HCM. […] In both matched and unmatched cohorts, there were no significant differences in clinical prognosis between HOCM and HNCM patients, and LVOT obstruction was not an independent risk predictor of prognosis in patients with HCM. […] In the present study, we found that the LVOT gradient had no effect on HCM prognosis either before or after matching by data-driven PSM analysis in a multicenter cohort study. Additionally, subgroup analyses showed that HOCM was not significant in all subgroups of all-cause mortality, cardiovascular mortality/cardiac transplantation and SCD. […] In the present multicenter cohort study, there were no significant differences in all-cause mortality, cardiovascular mortality/cardiac transplantation or SCD between HOCM and HNCM before and after matching analysis, and according to the Cox proportional hazard regression model, LVOT obstruction was not an independent risk predictor of HCM.

• #20 Survival and prognostic factors in hypertrophic cardiomyopathy: a meta-analysis | Scientific Reports

  https://www.nature.com/articles/s41598-017-12289-4

  Our findings indicate that known traditional HCM risk factors, such as FHSD and AF, have prognostic relevance, as expected. Judged by PAR, nsVT and LVO/MVO, respectively, are the most important risk factors for cardiovascular death and sudden cardiac death in HCM confirmed in our meta-analysis, and FHSD is also a highly important prognostic marker.

• #21 Hypertrophic Cardiomyopathy: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/152913-overview

  Screening of first-degree relatives is useful to identify additional affected family members prior to the onset of significant symptoms or sudden death. […] Patients can have a myriad of arrhythmias, including atrial fibrillation, atrial flutter, ventricular ectopy, ventricular tachycardia, and ventricular fibrillation. These patients are among the highest-risk group for ventricular fibrillation and pose difficult therapeutic decisions for risk reduction. […] Patients have a high likelihood of recurrent heart failure resulting from mitral regurgitation and profound diastolic dysfunction. HCM is a progressive condition that worsens over time, as does the gradient across the LV outflow tract if left untreated. Systolic function usually is well preserved until the late stages of the disease. Angina is rare in children but common in adults. Syncope and presyncope are common and may identify individuals at high risk for sudden death.

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