Background Isolated left ventricular apical hypoplasia (ILVAH) is a rare congenital cardiac abnormality, which might result in severe symptomatic heart failure (HF) with pulmonary hypertension, atrial fibrillation (AF), or malignant ventricular tachycardia in adults. Case summary A 32-years-old man presented with exertional dyspnoea New York Heart Association Class II and persistent AF. Echocardiography and cardiac magnetic resonance showed the presence of (i) spherical remodelling of the left ventricle (LV) with impaired contractile function (three-dimensional ejection fraction, EF 32%); (ii) substitution of apical myocardium by fatty tissue; (iii) abnormal origin of a papillary muscle network; and (iv) an elongated right ventricle, compatible with ILVAH. In addition, non-compacted endomyocardial layer of the LV was observed. Because of a high risk of sudden cardiac death in symptomatic HF patients with reduced EF, an implantable cardioverter-defibrillator was placed which followed by pulmonary vein isolation. After the procedures and restoration of sinus rhythm, the patient demonstrated improvement in HF symptoms and exercise tolerance. This was accompanied by an enhancement of left and right ventricular systolic function by echocardiography. At 6-month, 1, and 2-year follow-up the clinical conditions of the patient and echocardiographic findings remained stable. Discussion A rare combination of ILVAH and left ventricular myocardium non-compaction was observed in this young adult who presented with symptomatic HF and persistent AF. The use of consecutive invasive cardiac procedures leads to restoration of sinus rhythm, the improvement of myocardial contractility and clinical manifestation of HF.

No abstract

No abstract

Aim. To analyze the long-term effect of microvascular injury various types on the structural and functional parameters of the left ventricle assessed by echocardiography in patients with primary ST-segment elevation myocardial infarction (STEMI).Materials and methods. The study included 60 patients with primary STEMI admitted within the first 12 hours after the onset of disease who underwent stenting of the infarct-associated coronary artery. Each patient included in the study underwent CMR imaging on the second day post-STEMI. MVO and IMH were assessed using late gadolinium enhancement and T2-weighted CMR imaging. Subsequently, all patients underwent the standard echocardiographic protocol on the 7th day and 3 months after MI. Results. We divided all patients into 4 groups: the 1st group didn’t have any phenomena of IMH and MVO, the 2nd group had only MVO, patients of the 3rd group had only IMH and in the 4th group there was a combination of MVO and IMH. LV ejection fraction was significantly lower in patients with combination of MVO and IMH, if compared to those without it. Correlation analysis showed a moderate inverse correlation between the MVO area and LV contractile function: the larger the area, the lower the LVEF (R=-0,60; p=0,000002).Conclusions. The combination of IMH and MVO is a predictor of a reduction in LVEF and an increase of volumetric measurements within 3 months after MI. In comparison with patients without microvascular injury isolated MVO is associated with lower LVEF. The size of MVO is directly correlated with the LV contractile function decrease. Isolated IMH was not associated with deterioration of left ventricular function.

Increasing evidence suggests that both coding and non-coding regions of sarcomeric protein genes can contribute to hypertrophic cardiomyopathy (HCM). Here, we introduce an experimental workflow (tested on four patients) for complete sequencing of the most common HCM genes (MYBPC3, MYH7, TPM1, TNNT2, and TNNI3) via long-range PCR, Oxford Nanopore Technology (ONT) sequencing, and bioinformatic analysis. We applied Illumina and Sanger sequencing to validate the results, FastQC, Qualimap, and MultiQC for quality evaluations, MiniMap2 to align data, Clair3 to call and phase variants, and Annovar’s tools and CADD to assess pathogenicity of variants. We could not amplify the region encompassing exons 6–12 of MYBPC3. A higher sequencing error rate was observed with ONT (6.86–6.92%) than with Illumina technology (1.14–1.35%), mostly for small indels. Pathogenic variant p.Gln1233Ter and benign polymorphism p.Arg326Gln in MYBPC3 in a heterozygous state were found in one patient. We demonstrated the ability of ONT to phase single-nucleotide variants, enabling direct haplotype determination for genes TNNT2 and TPM1. These findings highlight the importance of long-range PCR efficiency, as well as lower accuracy of variant calling by ONT than by Illumina technology; these differences should be clarified prior to clinical application of the ONT method.

No abstract

We studied myocardial biopsy specimens from the right atrium of cardiological patients with different degree of cardiac ischemia obtained during surgery. No inducible HSP70 stress proteins were detected in atrial cardiomyocytes of patients with the WPW syndrome without signs of ischemic injuries of the heart. These proteins were detected in the myocardium of coronary patients. Their expression was more intense in patients with coronary disease paralleled by the development of myocardial dyskinesia. Two-dimensional electrophoresis showed only acid HSP70 but no alkaline isoforms in coronary patients even with pronounced dyskinesia. Presumably, alkaline HSP70 isoforms are present in the myocardium directly involved in the dyskinesia zone.

Первичные кардиомиопатии в детском возрасте представляют собой редкое, но серьезное заболевание, которое является частой причиной сердечной недостаточности и наиболее частой причиной трансплантации сердца у детей старше 1 года. За последние десятилетия диагностика кардиомиопатии продвинулась от традиционных клинических подходов к новым генетическим и визуализационным методам. В статье представлен обзор литературных данных о современной классификации первичных педиатрических кардиомиопатий, особенностях клинического течения и визуализации, которая является неотъемлемой частью диагностики на основе первичного морфофункционального фенотипа.