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The phenomenon of massive eosinophilia, a consequence of chemotherapy, may manifest as extensive coronary microvascular infiltration, strikingly resembling severe triple-vessel coronary artery disease. Early CMR evaluations neglected tissue characterization, and electron microscopy (EM) was not considered, consequently delaying the appropriate therapeutic approach. For accurate diagnostic determination, a complete CMR assessment is vital.

Although cardiology has progressed significantly recently, sudden cardiac death continues to pose a substantial obstacle, and the exact cause of many sudden cardiac arrests remains enigmatic.

Ventricular fibrillation struck a 48-year-old medical worker, in peak physical condition and free from any prior ailments, at their place of employment, but thankfully they were successfully resuscitated. Although the baseline electrocardiogram did not display a Brugada pattern, we discovered pathogenic mutations in the CACNB2 genes, corresponding to variants at chromosome 10 positions 18150879 and 18539538, strongly linked to Brugada syndrome. Transthoracic echocardiography and cardiac magnetic resonance scans illustrated mitral valve prolapse (MVP), consistent with Barlow’s disease characteristics. Maligant aspects, including bileaflet prolapse, mitral annular disjunction, and fibrosis of the inferior and inferolateral left ventricular wall, were also observed.

This case report, as far as we are aware, details the first instance of sudden cardiac arrest in a patient concurrently diagnosed with malignant mitral valve prolapse and carrying a CACNB2 gene mutation. This study indicates that further research into standardized criteria for diagnosing malignant MVP is essential for primary prevention of sudden cardiac death. Cardiac MR imaging is essential in the diagnostic process for mitral valve prolapse (MVP) to allow for the early identification of arrhythmogenic features, specifically left ventricular fibrosis. To improve diagnostics for unexplained cardiac arrest and mitral valve prolapse, we suggest that genetic testing be considered as a supporting tool, in addition to existing methods. A better understanding of the genetic relationship between these two conditions is essential for better risk stratification and earlier cardiac intervention, which this would help to achieve.

From our knowledge base, we identify this case report as the initial one concerning sudden cardiac arrest in a patient with a diagnosis of malignant mitral valve prolapse exhibiting a CACNB2 gene mutation. pde signals inhibitors To combat sudden cardiac death, this study stresses the necessity of establishing standardized criteria for the diagnosis of malignant mitral valve prolapse (MVP). Early diagnostic detection of arrhythmogenic features, specifically left ventricular fibrosis, in mitral valve prolapse (MVP) patients should be facilitated by including cardiac magnetic resonance imaging (CMR). Genetic testing, we suggest, should complement the existing diagnostic methods in cases of unexplained cardiac arrest and patients diagnosed with mitral valve prolapse (MVP). Better risk stratification and timely cardiac interventions rely on a more comprehensive understanding of the genetic factors shared by these two conditions.

Patients with a single ventricle represent a morphologically heterogeneous group, situated at the most critical point of the congenital heart disease spectrum. Over the past decades, the understanding of the genetic factors involved in congenital heart disease has deepened considerably. Thus far, a restricted collection of genes has been discovered within the hypoplastic heart, primarily concentrated in cases of left-sided hypoplasia. Additional research and analysis are crucial to gain a more comprehensive view of this domain.

A further case report on an adult patient, following Fontan palliation, and having experienced birth-related conditions, is presented here. Characterized by tricuspid atresia, a hypoplastic right ventricle, and pulmonary stenosis, this congenital heart defect demands meticulous care. This patient’s young adult life was burdened by a wide array of late sequelae, impacting multiple organ systems, including the persistent refractory protein-losing enteropathy (PLE). The need for genetic evaluation arose from the conjunction of concomitant extracardiac anomalies, the complex congenital heart defect, and its various complications. A variant of uncertain significance was identified in the whole exome sequencing data.

NM 0043334c.1897T, the gene, is fundamental to the complex workings of the organism. Lymphoedema and PLE are frequently observed as manifestations of Noonan spectrum disorders caused by the C p.(Tyr633His) mutation. An evolutionarily stable amino acid is altered in this variant, which all prediction programs classify as pathogenic. It is highly probable that the mutation occurred.

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The complex and multifaceted phenotype and numerous complications of Fontan (adult) patients can be further elucidated by genetic screening. For adult CHD cardiologists, understanding genetic predispositions for CHD, concurrent extracardiac anomalies, and the complex clinical presentation, including a wide scope of long-term consequences, is essential.

Genetic screening offers fresh perspectives on the multifaceted phenotype and diverse complications faced by Fontan (adult) patients. Adult CHD cardiologists should possess thorough knowledge of genetic syndromes as contributing factors to CHD, the presence of concomitant extracardiac anomalies, and the intricate clinical course marked by a diverse range of delayed complications.

If dry mitral annulus calcification (MAC) infiltrates the left ventricular myocardium to a considerable degree, removing the calcification may result in a thin left ventricular wall and a heightened risk of post-operative left ventricular rupture. Subsequently, the degree of left ventricular myocardial infiltration before the operation ought to be evaluated with the utmost accuracy. An 84-year-old woman’s case of caseous mitral annulus calcification (CCMA), a variant of MAC, underwent evaluation using cardiac magnetic resonance imaging (MRI). The MRI yielded valuable information regarding the degree of left ventricular infiltration by the calcification.

A referral for surgical treatment at our hospital was made for the patient, who was experiencing respiratory distress and severe mitral insufficiency. The echocardiogram revealed a mass near the mitral valve ring, situated beneath the posterior mitral annulus, suggesting a possible diagnosis of CCMA. For the purpose of assessing the threat of left ventricular rupture, a cardiac MRI was performed. No infiltration of the valve ring or left ventricular myocardium was detected in the pre-operative assessment. The surgical team proceeded with the removal of caseous calcification and the subsequent implantation of an artificial valve, carefully preserving the valve annulus. Following the surgical procedure, the patient experienced no complications and was released on the 21st day post-operatively.

A pre-operative cardiac MRI, integral to this CCMA case, was instrumental in quantifying the degree of valve annulus and left ventricular myocardial involvement and determining the likelihood of left ventricular rupture.

To assess the extent of valve annulus and left ventricular myocardial involvement, and to forecast the risk of left ventricular rupture, pre-operative cardiac MRI was applied in this CCMA case.

Within the pulmonary artery wall, intimal mesenchymal cells are the origin of the rare and malignant pulmonary artery sarcoma. Often confused with pulmonary embolism, the differentiation can be aided by 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET). A rare case of pulmonary sarcoma is detailed, highlighting the challenge of detecting this condition through standard PET scans.

For a month, a 77-year-old woman experienced worsening dyspnea on exertion, and for a week, she suffered from progressive chest discomfort that included nocturnal cough. She presented at our hospital. A contrast-enhanced computed tomography (CT) scan displayed a massive filling defect localized to the left pulmonary artery (PA). Pulmonary thromboembolism and tumour-like lesions were two of the main diagnostic options to be further scrutinized. A PET-CT scan demonstrated no abnormal uptake of 18F-FDG within the mass. Even after three weeks of successful anti-thrombotic treatment, a subsequent computed tomography scan revealed no reduction in the size of the lesion present in the pulmonary artery. Consequently, a surgical procedure was undertaken for both diagnostic and therapeutic objectives.

This case highlights the importance of considering pulmonary angiosarcoma as a differential diagnosis for pulmonary thromboembolism, especially when peripheral venous thrombosis isn’t apparent and there’s a negative workup.

Evaluation of the dimer test proceeds, notwithstanding the absence of heterogeneous contrast enhancement in CT and MRI, or of 18-FDG accumulation in PET-CT scans.

The informative nature of this present case lies in its support of the crucial role of awareness regarding PA angiosarcoma as a differential diagnosis for pulmonary thromboembolism, particularly in those cases lacking evidence of peripheral venous thrombosis and with a negative D-dimer test, even when CT/MRI and PET-CT scans do not indicate the presence of the tumor.

Cardiac structural and functional changes, indicative of mitochondrial cardiomyopathy (MCM), are a consequence of gene mutations or deletions affecting the mitochondrial respiratory chain’s components. This report details a case of MCM, marked by cardiogenic shock, which ultimately required the surgical insertion of a left ventricular assist device (LVAD).

A 35-year-old female patient, experiencing persistent weakness and non-ischemic cardiomyopathy, and currently receiving home dobutamine therapy, was referred to our institution for heart transplantation assessment. The elevated lactate level of 54 mmol/L (compared to the normal reference range of 0.5-2.2 mmol/L), as observed in laboratory tests, prompted the hospital admission of She for suspected cardiogenic shock.