Association of Mycobacterium avium paratuberculosis serostatus with age at first calving, calving interval, and milk production in dairy cows.

Mycobacterium avium ssp. paratuberculosis (MAP) is the causative agent of bovine paratuberculosis, also known as Johne's disease. This infection is responsible for negative effects, ranging from reduction of milk production to reproductive compromise and increased susceptibility to other diseases such as mastitis. Contradictory information on the association between this infection and reproductive performance has been reported in dairy cows. The aim of this work was to investigate associations between individual cow MAP seropositivity and lifetime reproduction and production performance. The MAP serum ELISA (IDEXX MAP Ac) results from all the 13,071 adult cows present on 191 farms and corresponding birth- and calving-date records obtained from the National Association for Genetic Improvement of Dairy Cattle were used. Cows and farms were classified as positive or negative, based on ELISA results. Outcomes assessed were age at first calving (AFC), intercalving intervals (ICI) from first to fourth interval, and average milk production per day of productive cycle (Milk-305/ICI, a ratio between 305-d corrected milk production and the number of days of the respective calving interval). Multilevel mixed models were used to investigate the association of cow MAP status with AFC, ICI, and Milk-305/ICI. Three levels were considered in the models: "measurement occasion," the first level, was nested within cows and cows were nested within farms. The "measurement occasion" is the time point to which all the observed measures (between 2 successive parturitions, such as milk production and somatic cell count) were referred. Our results indicate that MAP-positive cows have a significantly lower 14-d mean AFC than MAP-negative cows. The overall average ICI in our study was 432.5 d (standard deviation: 94.6). The average ICI, from first to fourth, was not significantly affected by MAP seropositivity. No significant effect of MAP positivity was found on the overall ICI. In relation to Milk-305/ICI, MAP-positive cows did not produce significantly less milk than negative cows across their productive lifetime. We observed higher but nonsignificant Milk-305/ICI (kg/d) in MAP-positive cows. In our study, the proportion of MAP-positive cows within lactations remained similar across all lactations, suggesting that seropositivity did not increased drop-off rate.

Cardiovascular magnetic resonance in muscular dystrophies: looking ahead.

Cardiac magnetic resonance (CMR) is an established tool for risk stratification in several cardiomyopathies, and its role in muscular dystrophies (MuD) looks promising. We sought to assess how CMR performs in predicting cardiac events in a real cohort of MuD patients. A prospective single-center study with the enrollment of consecutive adult MuD patients referred to cardiac screening from 2012 to 2018 with the collection of clinical and CMR data. During follow-up (FUP), major adverse cardiac events were considered a composite of device implantation, ventricular tachycardia (VT), hospitalization due to heart failure, and death. Sixty-five patients were included (mean age of 32±16, 51% female); the majority had myotonic dystrophy (34; 52.3%); most were asymptomatic (60; 92.3%) and at sinus rhythm (64; 98.5%). CMR was abnormal in 23 (43.3%) patients: left ventricle ejection fraction (LVEF) <55% was found in 7 patients, and late gadolinium enhancement (LGE) was present in 23 patients, mainly intra-myocardial or subepicardial (10 and 8 patients, respectively). During a median FUP of 77 months (interquartile range: 33), there were 7 deaths, 8 implanted devices, and one sustained VT. LVEF<55% and the presence of LGE were associated with the occurrence of all events (log rank test, p=0.002 and p=0.045, respectively). LVEF<55% was associated with a 6-fold higher risk of events (crude hazard ratio of 6.15; 95% confidence interval of 1.65-22.93), that remained significant after adjusting for LGE presence (adjusted hazard ratio of 4.81, 95% confidence interval of 1.07-15.9). In our cohort, CMR LVEF<55% and the presence of LGE were significantly associated with adverse events during follow-up, reinforcing the role of this technique on risk stratification of MuD populations.

First-degree atrioventricular block in hypertrophic cardiomyopathy patients: an easy and worthy prognostic marker?

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Recently, a connection has been observed between the presence of first-degree atrioventricular block (FDAVB) and cardiovascular outcomes, although the pathophysiology of this association remains poorly understood. Considering the period 2000-2023, we retrospectively included HCM patients at sinus rhythm at the first appointment and sought possible interactions of FDAVB (defined as PR interval >200 ms) with different clinical and imaging variables and with the occurrence of cardiovascular events, including atrial fibrillation (AF). A total of 97 patients were included, of whom 57 (58.8%) were men, with a mean age of 51±19 years, and 14 (14.4%) had FDAVB. During a median of 4.29 (P25 1.92, P75 7.67) years of follow-up, 35 cardiovascular events occurred, including 13 de novo diagnoses of AF, 8 hospitalizations due to heart failure, 8 new-onset strokes, 4 myocardial infarctions, and 2 implantations of cardio defibrillators in secondary prevention; no HCM-related death occurred. We did not find any association between outcomes and the presence of FDAVB. The role of FDAVB as a prognostic marker in HCM patients requires further investigation. We found that FDAVB patients were older, more frequently reported dyspnea, had a larger QRS duration, a higher E/e' ratio, and lower maximal left ventricle wall thickness by magnetic resonance (p<0.05). After multivariable analysis, FDAVB was independently associated with a higher echocardiographic E/e' ratio (p=0.039) (odds ratio=1.588). This is the first paper to document an independent association between FGAVB and a higher E/e' ratio in HCM patients.

First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an "African variant" in Caucasians.

Objectives. Hereditary transthyretin amyloidosis caused by the (ATTRv) p. Val142Ile variant is a common cause of cardiac amyloidosis among Western African countries and Afro-Americans populations. However, in recent years, Caucasian patients have been identified in greater numbers, raising the question of whether this variant has been undeappreciated in this population. We now have new cases of cardiac amyloidosis caused by the p.Val142Ile from a center in northern Portugal. In addition, we reviewed and discussed the published data concerning p.Val142Ile in Caucasians. Design. Patients diagnosed with cardiac amyloidosis underwent genetic testing using TTR gene sequencing and their relatives were recommended for genetic counsellingand testing if a pathogenic TTR variant was found. In our center, we reviewed the clinical data of patients who had the p.Val142Ile variant. A review of published cases of p.Val142Ile in Caucasians was also performed, to which our data was compared. Results. We found three ATTRv patients with the p.Val142Ile variant (one homozygotic), all Caucasian males with a median age at diagnosis of 69 years old. All of them had heart failure and arrhythmias. During the follow-up period, two patients died. There were 47 unrelated unrelated Caucasian cases of ATTRv p.Val142Ile variant reported worldwide until May 2022. Conclusions. Our findings add to the mounting evidence that the global prevalence of p.Val142Ile is likely understated. This highlights the importance of the systematic screening of the TTR gene in amyloidosis and phenocopies, as well as larger epidemiologic studies to determine the true ATTRv p.Val142Ile prevalence in non-African communities.

Does the type of seizure influence heart rate variability changes?

OBJECTIVE: Heart rate variability (HRV), an index of the autonomic cardiac activity, is decreased in patients with epilepsy, and a low HRV is associated with a higher risk of sudden death. Generalized tonic-clonic seizures are one of the most consistent risk factors for SUDEP, but the influence (and relative risk) of each type of seizure on cardiac function is still unknown. Our objective was to assess the impact of the type of seizure (focal to bilateral tonic-clonic seizure - FBTCS - versus non-FBTCS) on periictal HRV, in a group of patients with refractory epilepsy and both types of seizures. METHODS: We performed a 48-hour Holter recording on 121 patients consecutively admitted to our Epilepsy Monitoring Unit. We only included patients with both FBTCS and non-FBTCS on the Holter recording and selected the first seizure of each type to analyze. To evaluate HRV parameters (AVNN, SDNN, RMSSD, pNN20, LF, HF, and LF/HF), we chose 5-min epochs pre- and postictally. RESULTS: We included 14 patients, with a median age of 36 (min-max, 16-55) years and 64% were female. Thirty-six percent had cardiovascular risk factors, but no previously known cardiac disease. In the preictal period, there were no statistically significant differences in HRV parameters, between FBTCS and non-FBTCS. In the postictal period, AVNN, RMSSD, pNN20, LF, and HF were significantly lower, and LF/HF and HR were significantly higher in FBTCS. From preictal to postictal periods, FBTCS elicited a statistically significant rise in HR and LF/HF, and a statistically significant fall in AVNN, RMSSD, pNN20, and HF. Non-FBTCS only caused statistically significant changes in HR (decrease) and AVNN (increase). SIGNIFICANCE/CONCLUSION: This work emphasizes the greater effect of FBTCS in autonomic cardiac function in patients with refractory epilepsy, compared to other types of seizures, with a significant reduction in vagal tonus, which may be associated with an increased risk of SUDEP.

Heterogeneity of penicillin-non-susceptible group B streptococci isolated from a single patient in Germany.

OBJECTIVES: Streptococcus agalactiae [group B streptococci (GBS)] have been considered uniformly susceptible to penicillin. However, increasing reports from Asia and North America are documenting penicillin-non-susceptible GBS (PRGBS) with mutations in pbp genes. Here we report, to the best of our knowledge, the first two PRGBS isolates recovered in Europe (AC-13238-1 and AC-13238-2), isolated from the same patient. METHODS: Two different colony morphologies of GBS were noted from a surgical abscess drainage sample. Both were serotyped and antimicrobial susceptibility testing was performed by different methodologies. High-throughput sequencing was done to compare the isolates at the genomic level, to identify their capsular type and ST, to evaluate mutations in the pbp genes and to compare the isolates with the genomes of other PRGBS isolates sharing the same serotype and ST. RESULTS: Isolates AC-13238-1 and AC-13238-2 presented MICs above the EUCAST and CLSI breakpoints for penicillin susceptibility. Both shared the capsular type Ia operon and ST23. Genomic analysis uncovered differences between the two isolates in seven genes, including altered pbp genes. Deduced amino acid sequences revealed critical substitutions in PBP2X in both isolates. Comparison with serotype Ia clonal complex 23 PRGBS from the USA reinforced the similarity between AC-13238-1 and AC-13238-2, and their divergence from the US strains. CONCLUSIONS: Our results support the in-host evolution of ß-lactam-resistant GBS, with two PRGBS variants being isolated from one patient.

Increasing macrolide resistance among Streptococcus agalactiae causing invasive disease in non-pregnant adults was driven by a single capsular-transformed lineage, Portugal, 2009 to 2015.

We characterised Lancefield group B streptococcal (GBS) isolates causing invasive disease among non-pregnant adults in Portugal between 2009 and 2015. All isolates (n = 555) were serotyped, assigned to clonal complexes (CCs) by multilocus sequence typing and characterised by surface protein and pilus island gene profiling. Antimicrobial susceptibility was tested by disk diffusion and resistance genotypes identified by PCR. Overall, serotype Ia was most frequent in the population (31%), followed by serotypes Ib (24%) and V (18%). Serotype Ib increased significantly throughout the study period (p < 0.001) to become the most frequent serotype after 2013. More than 40% of isolates clustered in the CC1/alp3/PI-1+PI-2a genetic lineage, including most isolates of serotypes Ib (n = 110) and V (n = 65). Erythromycin and clindamycin resistance rates were 35% and 34%, respectively, both increasing from 2009 to 2015 (p < 0.010) and associated with CC1 and serotype Ib (p < 0.001). The Ib/CC1 lineage probably resulted from acquisition of the type Ib capsular operon in a single recombination event by a representative of the V/CC1 macrolide-resistant lineage. Expansion of the new serotype Ib/CC1 lineage resulted in increased macrolide resistance in GBS, causing invasive disease among adults in Portugal. The presence of this clone elsewhere may predict more widespread increase in resistance.

Presence of Mycobacterium avium subs. paratuberculosis DNA in milk used to feed calves in Portugal.

This Technical Research communication describes results of a study aimed at detecting the presence of Map in milk fed to calves, and identifying possible risk factors for that presence. A questionnaire was performed on 37 dairy farms and waste milk samples were collected on 3 occasions separated by a minimum of 1 week. For farms not feeding waste milk, bulk tank milk samples were collected instead. A real time PCR for the detection of the IS900 sequence was performed for the detection of Map. A majority of farms (89·2%) fed waste milk, with only one pasteurising the milk before feeding it to calves. Results of the PCR showed that 51·5% of the farms that were feeding waste milk had a positive result for Map on that milk. None of the studied risk factors were significantly associated with the presence of Map in milk samples, possibly due to the small number of farms entering the study. However, the prevalence of positive samples for Map on PCR was 3·5 times higher for farms that bought in animals from a single origin and 1·9 times higher for farms that bought from multiple farms, when compared with closed farms. Having a calving area for multiple cows also increased the risk of a positive Map result by 1·5 when compared with single pens. The risk of having a positive Map result on waste milk was 1·6 times higher for farms feeding that milk to male calves and 1·4 for farms feeding to both male and female calves, when compared with farms not feeding waste milk. This study highlights paratuberculosis as one of the potential risks of feeding waste milk to calves, and the need for mitigation strategies to be in place to avoid unnecessary disease transmission.

Efficacy of suit therapy on functioning in children and adolescents with cerebral palsy: a systematic review and meta-analysis.

AIM: This systematic review and meta-analysis presents an overview of the efficacy of suit therapy on functioning in children and adolescents with cerebral palsy (CP). METHOD: A systematic review with meta-analysis was conducted. A comprehensive search of peer-reviewed articles was performed on electronic databases, from their inception to May 2014. Studies included were rated for methodological quality using the Physiotherapy Evidence Database scale. Effects of suit therapy on functioning were assessed using meta-analytic techniques. RESULTS: From the 46 identified studies, four met the inclusion criteria and were included in the meta-analysis. Small, pooled effect sizes were found for gross motor function at post-treatment (g=0.46, 95% confidence interval [CI] 0.10-0.82) and follow-up (g=0.47, 95% CI 0.03-0.90). INTERPRETATION: The small number of studies, the variability between them, and the low sample sizes are limitations of this review. Findings suggest that to weigh and balance benefits against harms, clinicians, patients, and families need better evidence to examine and prove the effects of short intensive treatment such as suit therapy on gross motor function in children and adolescents with CP. Therefore, more research based on high-quality studies focusing on functioning in all dimensions of the International Classification of Functioning, Disability and Health perspective is necessary to clarify the impact of suit therapy.

Iron deficiency status irrespective of anemia: a predictor of unfavorable outcome in chronic heart failure patients.

OBJECTIVE: To assess the prognostic significance of iron deficiency (ID) in a chronic heart failure (CHF) outpatient population. METHODS AND RESULTS: We prospectively evaluated 127 patients with stable CHF and left ventricular ejection fraction ≤45%. Clinical and analytical data as well as information regarding the occurrence of the composite endpoint of overall mortality and nonfatal cardiovascular events were assessed. Among the 127 patients enrolled [81% men, median age: 62 years (25th-75th percentile: 53-68)], 46 (36%) patients had ID. Women, patients with higher plasma brain natriuretic peptide levels (>400 pg/ml) and with right ventricular systolic dysfunction presented ID more frequently (p < 0.05 for all). At 225 ± 139 days of follow-up, the composite endpoint occurred in 15 (12%) patients. It was more frequent in ID (24 vs. 5%, p = 0.001) and anemic patients (25 vs. 8%, p = 0.014). In a Cox regression analysis, ID was associated with a higher likelihood of composite endpoint occurrence (HR 5.00, 95% CI 1.59-15.78, p = 0.006). In a multivariable analysis adjusted for clinical variables, including the presence of anemia, ID remained a significant predictor of the composite endpoint (HR 5.38, 95% CI 1.54-18.87, p = 0.009). CONCLUSION: In a CHF outpatient population, ID carried a higher risk of unfavorable outcome, irrespectively of the presence of anemia.

Spirito-Maron echocardiographic score: a marker for morphological and physiological assessment of patients with hypertrophic cardiomyopathy.

AIMS: The heterogeneous distribution of hypertrophy in hypertrophic cardiomyopathy (HCM) limits the echocardiographic conventional measurements accuracy in the evaluation of left ventricular hypertrophy (LVH). The aim of this study was to assess the correlation of the echocardiographic Spirito-Maron score (SMS) with left ventricle (LV) mass quantification by cardiac magnetic resonance (CMR) and with LV diastolic function. METHODS AND RESULTS: Left ventricle diastolic function parameters, SMS, LV mass (American Society of Echocardiography formula), and maximal wall thickness (MWT) were evaluated by two-dimensional (2D) transthoracic echocardiography. The SMS was obtained by adding the MWT of 4 LV segments, at the mitral valve or papillary muscles short-axis views. Echocardiographic parameters of LVH, including SMS, were correlated with LV mass obtained by CMR and with E/e' ratio. We included 45 patients (60% male, mean age 48 ± 18 years), who underwent 2D echocardiography. Twenty-two of them performed a CMR study. A positive correlation was found between SMS and CMR LV mass (r = 0.80; P < 0.001), whereas MWT (r = 0.62; P = 0.002) and the 2D LV mass (r = 0.60; P = 0.011) presented a lower correlation with CMR LV mass. The SMS was significantly correlated with E/e' ratio (r = 0.60; P = 0.007), whereas a nonsignificant correlation was found with MWT (r = 0.41; P = 0.081) and 2D LV mass (r = 0.22; P = 0.400). CONCLUSION: Spirito-Maron score presents a highly positive correlation with CMR LV mass and with diastolic dysfunction severity in HCM patients. SMS is a reliable quantitative LVH measurement method and seems to provide more comprehensive morphological and physiological information than 2D echocardiographic conventional parameters used to estimate LVH.

Left bundle branch block-induced dilated cardiomyopathy: Definitions, pathophysiology, and therapy.

Left bundle branch block (LBBB) is a frequent finding in patients with heart failure (HF), particularly in those with dilated cardiomyopathy (DCM). LBBB has been commonly described as a consequence of DCM development. However, a total recovery of left ventricular (LV) function after cardiac resynchronization therapy (CRT), observed in patients with LBBB and DCM, has led to increasing acknowledgement of LBBB-induced dilated cardiomyopathy (LBBB-iDCM) as a specific pathological entity. Its recognition has important clinical implications, as LBBB-iDCM patients may benefit from an early CRT strategy rather than medical HF therapy only. At present, there are no definitive diagnostic criteria enabling the universal identification of LBBB-iDCM, and no defined therapeutic approach in this subgroup of patients. This review compiles the main findings about LBBB-iDCM pathophysiology and the current proposed diagnostic criteria and therapeutic approach.

The association between pre-existing heart failure and cancer incidence: A systematic review and meta-analysis.

INTRODUCTION AND OBJECTIVES: Cardiovascular diseases (CVD) and cancer are some of the most recognized causes of mortality and morbidity worldwide. Cancer is the second leading cause of death in heart failure (HF) populations. Recent studies have hypothesized that HF might promote the development and progression of cancer. We aim to analyze and discuss the most recent evidence on the relationship between HF and cancer development. METHODS: From inception to November 2022, we searched PubMed, Web of Science and ClinicalTrials.gov for relevant articles on patients with HF and a subsequent cancer diagnosis that reported outcomes of overall and site-specific cancer incidence, or mortality. RESULTS: Of 2401 articles identified in our original search, 13 articles met our criteria. Studies reporting risk rate estimates were summarized qualitatively. Studies reporting hazard ratios (HRs), or relative risks were combined in a meta-analysis and revealed that HF was associated with an increased overall cancer incidence with a HR=1.30 (95% CI: 1.04-1.62) compared with individuals without HF. Subgroup analyses by cancer type revealed increased risk for lung cancer (HR=1.87; 95% CI: 1.28-2.73), gastrointestinal cancer (HR=1.22; 95% CI: 1.03-1.45), hematologic cancer (HR=1.60; 95% CI: 1.23-2.08) and female reproductive cancer (HR=1.67; 95% CI: 1.27-2.21). Mortality from cancer was higher in HF patients compared with non-HF subjects with a HR=2.17 (95% CI: 1.23-3.84). CONCLUSIONS: Our systematic review and meta-analysis revealed that HF may result in a subsequent increase in cancer incidence as well as in cancer-related mortality. The most common cancer subtypes in HF patients were lung, female reproductive system, and hematologic cancers. Further research is needed to understand this association better and to provide the best cardiological and oncological care.

Loop diuretic discontinuation in chronic heart failure patients: A retrospective study.

INTRODUCTION AND OBJECTIVES: The use of loop diuretics is central in managing congestion in heart failure (HF), but their impact on prognosis remains unclear. In euvolemic patients, dose reduction is recommended, but there is no recommendation on their discontinuation. This study aims to assess the impact of loop diuretic discontinuation on the prognosis of outpatients with HF with reduced ejection fraction. METHODS: This retrospective cohort study collected data from medical records of patients followed in an outpatient HF clinic at a university hospital center. Patients were included if they had been on loop diuretics and these were discontinued. Demographic, clinical and laboratory data were collected, and number and type of congestive events during the one-year period after discontinuation were recorded. RESULTS: Among 265 patients on loop diuretics, almost half (129) discontinued them at some point. Patients had optimized medical therapy, low median age, low New York Heart Association class, low B-type natriuretic peptide values, normal blood pressure, controlled heart rate and kidney function within normal limits. Among 122 patients with one year of follow-up, 18 (14.8%) had a congestive event. Fifteen events (83.3%) were low-dose diuretic reinitiation at a scheduled visit. There were only three worsening heart failure events (2.5%) during the one-year period. A significant improvement in kidney function from discontinuation to the one-year follow-up appointment was also observed. CONCLUSIONS: In our cohort, loop diuretic discontinuation was possible and safe in a large proportion of patients. The results should be interpreted with caution and cannot be extrapolated to a broader population of HF patients.

Recommendations for the Management of Cardiomyopathy Mutation Carriers: Evidence, Doubts, and Intentions.

Cardiomyopathies may be hereditary and associated with a familial predilection. Morbidity and mortality can be caused by heart failure, sudden death, or arrhythmias. Sometimes these events are the first manifestations of cardiovascular disease. Hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy are perhaps most thoroughly studied in that context. Dilated cardiomyopathy, although most frequently of secondary etiology, has a significant familial cluster. Noncompaction of the left ventricle can sometimes be seen in healthy individuals and, in other instances, is associated with severe LV dysfunction. Genetic testing is of utmost importance, since it might allow for the identification of individuals carrying mutations predisposing them to these diseases. In addition, certain variants may benefit from tailored therapeutic regimens, and thus searching for a causal mutation can impact clinical practice and is recommended for all patients with HCM or ACM. Patients with DCM and positive family history should be included as well. Regular follow-ups are advised, even in those with negative phenotypes, because these disorders are often age dependent. During pregnancy and in the case of athletes, special consideration should be made as well. We intend to summarize the most current evidence regarding their management.

Cardiovascular Magnetic Resonance Versus Histopathologic Study for Diagnosis of Benign and Malignant Cardiac Tumours: A Systematic Review and Meta-Analysis.

BACKGROUND: The gold standard for diagnosis of cardiac tumours is histopathological examination. Cardiovascular magnetic resonance (CMR) is a valuable non-invasive, radiation-free tool for identifying and characterizing cardiac tumours. Our aim is to understand CMR diagnosis of cardiac tumours by distinguishing benign vs. malignant tumours compared to the gold standard. METHODS: A systematic search was performed in the PubMed, Web of Science, and Scopus databases up to December 2022, and the results were reviewed by 2 independent investigators. Studies reporting CMR diagnosis were included in a meta-analysis, and pooled measures were obtained. The risk of bias was assessed using the Quality Assessment Tools from the National Institutes of Health. RESULTS: A total of 2,321 results was obtained; 10 studies were eligible, including one identified by citation search. Eight studies were included in the meta-analysis, which presented a pooled sensitivity of 93% and specificity of 94%, a diagnostic odds ratio of 185, and an area under the curve of 0.98 for CMR diagnosis of benign vs. malignant tumours. Additionally, 4 studies evaluated whether CMR diagnosis of cardiac tumours matched specific histopathological subtypes, with 73.6% achieving the correct diagnosis. CONCLUSIONS: To the best of our knowledge, this is the first published systematic review on CMR diagnosis of cardiac tumours. Compared to histopathological results, the ability to discriminate benign from malignant tumours was good but not outstanding. However, significant heterogeneity may have had an impact on our findings.

Diagnostic challenges of Marfan syndrome in an XYY young man.

Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old young man with a previously known diagnosis of XYY syndrome, in whom the identification of a fibrilin-1 mutation was determinant to establish an appropriate diagnosis, medical follow-up, and genetic counselling.

Cardiac 123I-MIBG scintigraphy and arrhythmic risk in left ventricular noncompaction.

Left ventricular noncompaction is an unusual but increasingly recognized cardiomyopathy, the etiology of which is still not definitely established. Clinical presentation includes a wide spectrum of scenarios, including heart failure, thromboembolism and malignant arrhythmias, with half of deaths occurring suddenly. Early detection of LVNC is therefore essential to prevent sudden cardiac death. To our knowledge, this is the first report of the presence of cardiac sympathetic nervous dysfunction, assessed by 123iodine-metaiodobenzylguanidine myocardial scintigraphy, in a patient with LVNC, preserved left ventricular systolic function and exercise-induced nonsustained ventricular tachycardia. This finding may be related to the increased arrhythmic risk observed in this cardiomyopathy, giving a new insight into the pathophysiology of LVNC.

[Atrial myxoma: a histologically benign tumor with potentially serious manifestations]. / Mixoma auricular: um tumor histologicamente benigno com manifestações potencialmente graves.

Atrial myxoma is the most prevalent primary heart tumor. Although it is considered histologically benign, it may course with serious complications. We report the clinical case of a 35 years old man, previously asymptomatic, admitted due to an acute ischemia of the lower limbs, consequence of an embolic complication of a left atrial myxoma. We conclude with a brief review of the literature on the topic.

Mavacamten, a novel revolutionizing therapy in hypertrophic obstructive cardiomyopathy: A literature review.

Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiac diseases, defined as a left ventricular wall thickness of ≥15 mm, in the absence of other causes of abnormal ventricular loading. A major hallmark of this disease is the presence of left ventricular outflow tract obstruction, which develops in up to three quarters of patients, referred to as obstructive hypertrophic cardiomyopathy. Current treatment is offered to symptomatic patients, based on the presence of documented left ventricular obstruction, aimed at reducing symptoms and disease progression. This is achieved through pharmacological empirical therapy, surgery, alcohol ablation and/or pacing. Mavacamten is a first-in-class allosteric inhibitor of cardiac myosin that promises to provide clinicians with targeted therapy for these patients. The aim of this review is to provide a general overview of the modern approach to the diagnosis and management of HCM, as well as to integrate all the current knowledge on mavacamten, in anticipation of a future change in the treatment algorithm of patients with HCM.