Apical Hypertrophic Cardiomyopathy: Diagnosis, Natural History, and Management.

Apical hypertrophic cardiomyopathy (ApHCM) represents a rare variant of hypertrophic cardiomyopathy (HCM) with distinct phenotypic characteristics. The prevalence of this variant varies according to each study's geographic region. The leading imaging modality for the diagnosis of ApHCM is echocardiography. Cardiac magnetic resonance, however, is the gold standard for ApHCM diagnosis in case of poor acoustic windows or equivocal echocardiographic findings but also in cases of suspected apical aneurysms. The prognosis of ApHCM was reported to be relatively benign, although more recent studies seem to contradict this, demonstrating similar incidence of adverse events compared with the general HCM population. The aim of this review is to summarize the available evidence for the diagnosis of ApHCM, highlight distinctions in comparison to more frequent forms of HCM with regards to its natural history, prognosis, and management strategies.

Vascular endothelial injury assessed with functional techniques in systemic sclerosis patients with pulmonary arterial hypertension versus systemic sclerosis patients without pulmonary arterial hypertension: a systematic review and meta-analysis.

Microvascular dysfunction is one of the hallmarks of systemic sclerosis (SSc). The presence of pulmonary-arterial-hypertension (PAH) in SSc-patients is associated with poor prognosis. This is a systematic review and meta-analysis of studies assessing microvascular and endothelial injury with functional techniques in SSc-patients with PAH (SSc-PAH) compared to those without PAH (SSc-non-PAH) (PROSPERO: CRD42021236212). Literature search involved PubMed, the-Cochrane-Library, Web-of-Science, Scopus and manual search of article references. Studies assessing microvascular function by all available functional methods were considered eligible. Preclinical studies and studies using structural nailfold-videocapillaroscopy or biomarkers were excluded. Newcastle-Ottawa-Scale (NOS) was applied to evaluate the quality of retrieved studies. From a total of 602 retrieved articles, four studies (n = 159 participants) were included in meta-analysis; three studies were of high quality (NOS ≥ 7). In pooled analysis, a marginally significant impaired microvascular function was observed in SSc-PAH compared to SSc-non-PAH patients [SMD - 0.71, 95% CI (- 1.53, 0.12)], with significant between-study heterogeneity (I2 = 80%, p = 0.002). Among the studies examining endothelium-dependent and -independent vasodilation with LDF-iontophoresis, SSc-PAH subjects had significantly impaired endothelium-dependent-vasodilation [Ach-stimulated %change WMD - 216.79, 95% CI (- 337.87, - 95.71), I2 = 0%, p = 0.40], but no significant differences in endothelium-independent-vasodilation [SNP-stimulated %change WMD 90.84, 95% CI (- 82.52, 264.19), I2 = 44%, p = 0.18] compared with SSc-non-PAH subjects. In sensitivity analysis including only studies where SSc-PAH patients were diagnosed by right-heart-catheterization, a borderline difference between the two groups was noted [SMD - 1.09, 95% CI (- 2.30, 0.13), I2 = 82%, p = 0.004]. SSc-PAH patients showed marginally impaired microvascular function in the pooled analysis, as well as impaired endothelium-dependent-vasodilation in subgroup analysis compared with SSc-non-PAH patients. Vascular endothelial dysfunction could be involved in high cardiovascular risk of patients with SSc and PAH.

Coxiella Endocarditis as the Cause of Recurrent Fever and Brain Abscess in a Patient with Complex Congenital Heart Disease: A Case Report and Literature Review.

INTRODUCTION: Blood culture-negative infective endocarditis (BCNIE) can present subtly and is associated with a diagnostic delay leading to increased morbidity and mortality. Case Report. We present the case of an 18-year-old male with a history of complex congenital heart disease and 3-year intermittent episodes of fever of unknown origin, who was referred to our hospital for upper and lower extremity focal seizures. Laboratory blood tests were normal, blood cultures were negative, and brain imaging revealed an abscess. Cardiology consultation was requested, and transthoracic echocardiography revealed an intracardiac vegetation. Empiric antibiotic treatment with sultamicillin, gentamycin, and meropenem was initiated. Serology testing was positive for Coxiella burnetii, and the diagnosis of BCNIE was established. The antibiotic course was changed to oral doxycycline for 36 months and led to resolution of IE, with no vegetation detected on TTE after 15 months. CONCLUSION: BCNIE is a life-threatening disease entity that can lead to severe complications, such as valve regurgitation, emboli, and death. Patients with congenital heart disease are particularly vulnerable to IE. Timely diagnosis and antibiotic management are of paramount importance in order to avoid the potentially fatal sequelae.

Patients with hypertrophic cardiomyopathy at risk for paroxysmal atrial fibrillation: advanced echocardiographic evaluation of the left atrium combined with non-invasive P-wave analysis.

AIMS: The maintenance of sinus rhythm is crucial for the functional capacity of patients with hypertrophic cardiomyopathy (HCM). Using a multimodality approach, we attempted to identify potential predictors of paroxysmal atrial fibrillation (PAF) in HCM patients. METHODS AND RESULTS: Thirty HCM patients (17 males, mean age 57.9 ± 13.6) with at least one documented PAF episode and 32 age- and sex-matched HCM control patients as well as 25 healthy volunteers were studied in sinus rhythm. Study subjects underwent 2D echocardiography including a colour Doppler myocardial imaging evaluation of the left atrium (LA). Additionally, an orthogonal electrocardiogram was acquired; P-wave duration, maximum, and mean energies were calculated for each subject at each orthogonal lead and the composite vector axis using the Morlet wavelet analysis. Compared with HCM controls, in HCM-PAF patients, LA antero-posterior diameter was significantly enlarged (LADAP: 46.1 ± 5.9 vs. 40.0 ± 4.7 mm, P < 0.001), peak strain rate of the LA lateral wall in the reservoir phase was significantly decreased (LAT peak SR-S: 1.93 ± 0.51 vs. 2.55 ± 0.83 s(-1), P < 0.01), and P-wave duration in the Z-lead was significantly prolonged (P-durZ: 106.9 ± 24.6 vs. 86.2 ± 14.3 ms, P < 0.001). Cut-off values and areas under the curve (AUCs) for individual parameters were 42.0 mm, 2.32 s(-1), and 98.8 ms and 0.81, 0.74, and 0.78, respectively. A multivariable model combining LADAP, LAT peak SR-S and P-durZ had an AUC of 0.90, a sensitivity of 0.87, and a specificity of 0.91 for identifying PAF patients. CONCLUSION: P-wave duration combined with LA antero-posterior diameter and myocardial deformation indices resulted in a higher power for discriminating HCM-PAF patients, when compared with individual parameters derived from either wavelet analysis or 2D echocardiography.