Volume 31 (2021): Issue 4 (December 2021)

Over the last decade, the role of cardiovascular magnetic resonance imaging (CMR) among other non-invasive imaging techniques has been steadily increasing, as it is able to offer a comprehensive assessment for the whole spectrum of cardiovascular diseases. Thus, this is also reflected by the growing citations of CMR in the guidelines and statements issued by the European Society of Cardiology (ESC). Hereby, the ESC guidelines as well as position statements/papers from ESC working groups/associations involving CMR, published later than 2010, were searched. Clinically relevant information and, when available, corresponding recommendations regarding CMR were extracted and structured first according to type of disease and then, to publication, chronologically. Due to the large ammount of data, this review had to be divided in three parts: (I) coronary syndromes; (II) nonischemic cardiomyopathies and (III) arrhythmias, syncope, sudden cardiac death and devices as well as valvular, congenital, aortic and pericardial diseases. This review is addressed to clinical cardiologists, cardioradiologists as well as cardiac imagers and meant as a comprehensive compilation of the current clinical role of CMR according to the ESC.

The expanding appreciation of genetics by researchers, by clinicians and the general population goes hand in hand with the acknowledgement of its role in a multitude of diseases. However, each newly developed genetic test raises conflictual concerns in medicine, public health and social policy regarding the medical approaches under which the test would have a valuable role, and what are the uses of its results.

Genetic understanding is well defined for dyslipidemias, a collection of metabolic disorders which is characterized by high levels in the blood of lipoproteins, HDL, LDL and triglycerides (TG). The transmitted differences among families underlie the variation of lipid phenotypes and susceptibility to dyslipidemia. Disorders of lipid metabolism caused by genetic mutations along with other acquired risk factors are common in children. The nature of clinical features is often multifactorial and complex. While some show clinical signs and symptoms, children with genetic mutations, such as familial hypercholesterolemia (FH), are asymptomatic and generally normal weight, but increased cholesterol throughout life plays a key role in the progression of atherosclerosis from childhood and increases the risk of developing cardiovascular diseases such as myocardial infarction and stroke.

When considering FH, one of the most common monogenic diseases, there are unique benefits in identifying the causal genetic variant of patients under the age of 18^th, because the presence of elevated levels of persistent cholesterol formed on an early age leads to the formation of atherosclerosis and participates in its progression towards adulthood. When identifying a child at risk, disease prevention is done through proper assessment, early formation of a healthy lifestyle, and appropriate medication to lower lipids. The risk can be greatly reduced in order to prevent future events related to atherosclerotic cardiovascular disease¹.

Despite being at the extreme spectrum of congenital heart disease-associated pulmonary hypertension, patients with Eisenmenger syndrome have better outcomes compared to other types of pulmonary arterial hypertension, especially in the case of post-tricuspid shunts. This survival advantage seems to be at least partly due to significant resilience of the right ventricle and a relative resistance to failure. This paper aims to review the concept of right ventricular adaptive remodeling in Eisenmenger syndrome, its impact on prognosis and the role of multimodality imaging in the right ventricle's assessment in this setting.

Turner syndrome is characterized by growth failure, pubertal delay and different skeletal, cardiovascular and renal malformations. In this study we investigated the prevalence of cardiac abnormalities and the correlation with the karyotype in girls with Turner syndrome.

Given the increasing burden pf pediatric excess weight, we employed echocardiography to assess the presence and extent of cardiac dysfunction in a cohort of excess weight children compared to normal weight controls.

46 excess weight children and 28 normal weight controls underwent clinical examination, standard transthoracic echocardiography, and Tissue Doppler Imaging (TDI). Recorded parameters were normalized when possible.

Fractional shortening was normal in all subjects. A minority of participants (all of whom had excess weight) exhibited an ejection fraction of under 55%. M-mode and TDI systolic function parameters were mostly normal. There were conflicting results with respect to some diastolic function parameters (early diastolic flow propagation velocity, isovolumic relaxation time), but generally the diastolic function was also within normal limits.

Standard echocardiographic systolic and diastolic function parameters do not appear to be significantly altered in isolated pediatric excess weight. However, a thorough examination is advised in these children, as subtle changes may be identified in some, signaling a need for closer follow-up.

Pediatric multisystem inflammatory syndrome (PMIS) appears to be a relatively rare complication of COVID-19 in children, occurring in less than 1% of children with confirmed SARS-CoV-2 infection. This condition can appear several weeks after the acute SARS-CoV-2 infection and is assumed to be a delayed immune response to coronavirus disease 2019 which can lead to a severe cardiovascular involvement.

In this retrospective study, our main purpose was to summarize the clinical data from three types of onsets in patients diagnosed with PMIS and report the experience to the known data in the literature. We put the emphasis on the course of management considering the three different presenting faces of the PMIS in children. All patients received IV immunoglobulin and antiplatelet treatment, 66% (2 of 3) necessitated inotropic support, corticosteroid therapy (metilprednisolon), anticoagulation, 33% (1 of 3) received Anakinra (antagonist of the interleukin 1 receptor). All of them received cardiac remodeling treatment with Lisinopril and Bisoprolol (associated or not with Spironolactone and Furosemide). Evolution was good with discharge in approximately 2 weeks from admission, without symptoms, and with cardiac improvement at echocardiography.

PMIS is an alarming situation that necessitate multidisciplinary approach and a complex management. The cardiac evaluation is crucial in risk evaluation and guidance for a correct approach of the disease.

Pulmonary hypertension (PH) is a pathophysiological condition that includes multiple clinical situations and can complicate most cardiovascular and respiratory diseases¹. Step by step diagnosis and reviewing contemporary treatment approaches would significantly impact the prognosis of pediatric patients with PH. Management of children with PH requires a multidisciplinary team with experience. PH is frequently associated with cardiac and pulmonary diseases with chronic hypoxia, obstructive respiratory disorders, chest malformations, pneumonia, acute respiratory distress, and can also develop during late phases of cystic fibrosis, bronchial asthma, bronchiectasis. Updated definition of PH at the world symposium (HTAP, Nice, 2018) includes values of pulmonary artery pressure >20 mmHg and using pulmonary vascular resistance (PVR) indexed to the body surface to identify pre-capillary PH, PVR≥3 WU×m^{2 5}. Cardiac catheterization represents the gold standard in diagnosing PH, being the most precise method of measuring the blood pressure (BP) in the pulmonary artery and offering valuable information about cardiac output, arterial pressure, and the response to pulmonary vasodilators^2,3. The specific modern treatment with endothelin receptor inhibitors significantly improves the disease's clinical course and brings better parameters at instrumental investigations⁸.

Kawasaki disease is a challenging diagnosis even in typical forms of presentation. The features are represented by long lasting fever, specific mucocutaneous signs and coronary artery dilations as expression of medium artery vasculitis of unknown origin. Kawasaki-like disease emerged as a variant of pediatric multisystem inflammatory syndrome (PMIS) associated with COVID-19 infection. A 1 year 9-month-old boy who presented with fever, semi-consistent stools, vomiting, facial edema and hepatomegaly was transferred in our hospital with suspicion of myocarditis due to the clinical presentation, inflammatory markers and systolic dysfunction. In a few days after presentation, also, dilation of the coronary artery appeared while the child had persistent constant symptomatology. Gradually, a pediatric multisystem inflammatory syndrome (PMIS) developed, but without positive markers of COVID-19 infection, which remained negative (both antigen and antibodies). So, in front of all elements of PMIS except exposure to SARS-CoV-2, we concluded for an atypical Kawasaki disease with elements of PMIS. But the debate between the elaborated criteria British and American for PMIS are circling around the demonstration of the infection, past or present, making some cases difficult to diagnose.

In this high affluence of Kawasaki-like disease, with intricated elements of myocarditis and multisystem inflammatory syndrome it is more and more difficult to establish a clear diagnosis. While the diagnosis looks complex, the curative treatment goes in the same direction – immunoglobulin, immunosuppressive treatment, inotropic and antiaggregant or anticoagulant treatment.

Neurofibromatosis 1-Noonan syndrome is considered a distinct clinical entity, combining characteristics of both autosomal dominant disorders: neurofibromatosis 1 and Noonan syndrome. We present the case of a 20-year-old patient clinically diagnosed with neurofibromatosis 1-Noonan syndrome, with genetic confirmation-heterozygous mutation of PTPN11 gene and a variant of uncertain significance in NF1 gene (c.2989A>G). Associated congenital heart disease was diagnosed at birth-severe pulmonary valve stenosis and infundibular pulmonary stenosis, surgically corrected at the age of one. At adult age, cardiologic assessment shows severe pulmonary regurgitation post commissurotomy, with residual large pulmonary stenosis and left ventricular apical hypertrophy, suggesting apical hypertrophic cardiomyopathy, confirmed by cardiac magnetic resonance. The patient needs periodical follow-up in order to identify the perfect timing for correction of severe pulmonary regurgitation. As there are no specific genetic therapies for neurofibromatosis 1 or Noonan syndrome, the diagnose and management of associated comorbidities is the main aspect to be taken into considered.

Pulmonary regurgitation following correction of tetralogy of Fallot (ToF) is a common postoperative complication associated with progressive right ventricular (RV) enlargement and dysfunction, and is an important determinant of late morbidity and mortality. Usually, pulmonary regurgitation is well tolerated for many years following surgery, but it can lead to progressive exercise intolerance, heart failure, tachyarrhythmias, late sudden death requiring often re-intervention. The appropriate timing of such intervention can be a challenging topic given the risk of prosthetic valve degeneration, the increased risk of reoperation and the decision depends on assessment of right ventricle size and function. Pulmonary hypertension (PH) is not an usual finding in ToF patient and it can be caused by pulmonary agenesis, hypoplasia and/or thrombosis, residual ventricular septal defect, or a large prior systemic-to-pulmonary shunt. Association of pulmonary arterial hypertension in a patient with ToF and pulmonary regurgitation who needs valve correction involves higher surgical risks and the management must be taken in a multidisciplinary team.