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Introduction Obesity is known to be associated with cardiovascular compromise and a major risk factor for the development of hypertensive disorders in pregnancy. However, little is known about the effect of obesity on maternal cardiac function. The aim of this study was to investigate the effect of obesity on the maternal cardiovascular system. Material and methods This was a prospective, observational, longitudinal study. Pregnant women with booking body mass index (BMI) ≥30 kg/m2 were compared with pregnant women with normal booking BMI 20–24.9 kg/m2. Participants were seen at three time points during pregnancy; 12–14, 20–24 and 30–32 weeks. At all visits, maternal blood pressure (BP) was measured, and cardiac geometry and function were assessed using two‐dimensional trans‐thoracic echocardiography. Multilevel linear mixed‐effects models were used for all the comparisons. Results Fifty‐nine pregnant women with obesity were compared with 14 pregnant women with normal BMI. In women with obesity, the maternal BP, heart rate and cardiac output were higher and peripheral vascular resistance was lower (p < 0.01 for all comparisons) compared with normal BMI women. Women with obesity had altered cardiac geometry with higher left ventricular end diastolic diameter, intraventricular septal thickness, posterior wall diameter, relative wall thickness and left ventricular mass (p < 0.001 for all comparisons). There was also evidence of impaired diastolic indices in the obese group with a lower E/A ratio, tissue Doppler imaging E′ lateral and medial and higher left atrial volume (p < 0.01 for all comparisons). Finally, women with obesity had reduced longitudinal function, as assessed by mitral plane annular systolic excursion, between the second and third trimester of pregnancy, indicating possible early cardiac dysfunction in this group. Conclusions Obesity is associated with maternal hyperdynamic circulation, altered cardiac geometry and suboptimal diastolic function, compared with normal BMI pregnant women, and these factors may contribute to the increased risk of complications in obese pregnant women. Pregnant women with obesity, have altered hemodynamic function and cardiovascular geometry coupled with suboptimal diastolic and longitudinal function compared to pregnant women with normal BMI. These factors may contribute to the increased risk of complications in obese pregnant women.

Transcatheter pulmonary valve replacement is the first choice to treat residual or recurrent right ventricular outflow tract dysfunction. Surgery is an effective option when anatomy is not permissive for transcatheter procedures. When surgical risk is too high, hybrid procedures might be considered. In this paper, we describe the first use of Harmony valve in Europe in a 59 years old patient with a huge right ventricular outflow tract. The procedure was performed by a hybrid approach: before valve deployment, through an anterior mini-thoracotomy, the pulmonary artery was plicated to create a landing zone. The valve was deployed by trans-femoral venous approach. It was secured by putting a suture on the distal stent raw under fluoroscopic guidance. The procedure was uneventful and patient’s New York Heart Association class rapidly improved from III–IV to II. In conclusion, hybrid strategies might represent an acceptable option for huge right ventricular outflow tract, to be less invasive and to minimise device embolisation risks. When a good match between patient’s anatomy and device can be achieved, a mini-invasive or micro-invasive surgical approach might be considered to minimise bleeding risks and shorten the hospital’s length of stay.

Generalized Arterial Calcification of Infancy (GACI) is a rare autosomal recessive disorder characterized by pathological calcium deposition in large and medium-sized arteries, leading to severe cardiovascular complications such as hypertension, heart failure, and stroke. The mortality rate is approximately 50% within the first six months of life if untreated. The disease is primarily caused by mutations in the ENPP1 or ABCC6 genes, resulting in a deficiency of inorganic pyrophosphate (PPi), a key inhibitor of arterial calcification. This review provides a comprehensive overview of the pathophysiology, genetic basis, and clinical features of GACI. In addition, we summarize current and emerging therapeutic strategies, including enzyme replacement therapy with recombinant ENPP1 (INZ-701), critically discussing available preclinical and early clinical evidence, as well as current limitations.

Congenital heart disease (CHD) affects about 1% of live births. Among them, about 20% will undergo one or more surgical or percutaneous maneuvers on the right ventricle outflow tract or pulmonary valve. Transcatheter pulmonary valve implantation is a recently available less invasive alternative to surgery for treatment of right ventricular outflow tract dysfunction. Thus, residual dysfunction can be treated early and with a lower risk profile. This narrative review aimed to describe the state of the art of percutaneous pulmonary valve implantation.

The role played by the right ventricular (RV) dysfunction has long been underestimated in clinical practice. Recent findings are progressively confirming that when the RV efficiency deteriorates both the right and the left circulation is (significantly) affected, but studies dedicated to a detailed description of RV hemodynamic role still lack. In response to such a gap in knowledge, this work proposes a numerical model that for the first time evaluates the effect of isolated RV dysfunction on the whole circulation. Lumped parameter modelling was applied to represent the physio-pathological hemodynamics. Different grades of impairment were simulated for three dysfunctions i.e., systolic, diastolic, and combined systolic and diastolic. Hemodynamic alterations (i.e., of blood pressure, flow, global hemodynamic parameters), arising from the dysfunctions, are calculated and analysed. Results well accord with clinical observations, showing that RV dysfunction significantly affects both the pulmonary and systemic hemodynamics. Successful verification against in vivo data proved the clinical potentiality of the model i.e., the capability of identifying the degree of RV impairment for given hemodynamic conditions. This study aims at contributing to the improvement of RV dysfunction recognition and treatment, and to the development of tools for the clinical management of pathologies involving the right heart.

Pediatric hypertrophic cardiomyopathy (HCM) has a wide range of clinical manifestations. Left ventricular outflow tract obstruction (LVOTO) at rest is present in up to one-third of children with HCM, with a further 50-60% of symptomatic children developing a gradient under exertion. Treatment options are limited, and there is a relative lack of data on the pediatric population. Disopyramide is a sodium channel blocker with negative inotropic properties. This therapy effectively reduces LVOTO in adults with HCM and delays surgical interventions, but it is not licensed for use in children. We aimed to review and alyze the influence of disopyramide over the pathophysiological, clinical, electrocardiographic, and echocardiographic characteristics of patients with HCM in infancy, childhood, adolescence, and adult age. While disopyramide remains a cornerstone in the magement of pediatric HCM, the advent of mavacamten and aficamten heralds a new era of potential advancements. These emerging therapies could significantly improve the quality of life and prognosis for young patients with HCM.

Kawasaki disease (KD) can be associated with high morbidity and mortality due to coronary artery aneurysms formation and myocardial dysfunction. Aim of this study was to evaluate the diagnostic performance of non-invasive myocardial work in predicting subtle myocardial abnormalities in Kawasaki disease (KD) children with coronary dilatation (CADL). A total of 100 patients (age 8.7 ± 5 years) were included: 45 children with KD and CADL (KD/CADL) (Z-score > 2.5), 45 age-matched controls (CTRL) and, finally, an additional group of 10 children with KD in absence of coronary dilatation (KD group). Left ventricular (LV) systolic function and global longitudinal strain (GLS) were assessed. Global myocardial work index (MWI) was calculated as the area of the LV pressure-strain loops. From MWI, global Constructive Work (MCW), Wasted Work (MWW) and Work Efficiency (MWE) were estimated. Despite normal LV systolic function by routine echocardiography, KD/CADL patients had lower MWI (1433.2 ± 375.8 mmHg% vs 1752.2 ± 265.7 mmHg%, p < 0.001), MCW (1885.5 ± 384.2 mmHg% vs 2175.9 ± 292.4 mmHg%, p = 0.001) and MWE (994.0 ± 4.8% vs 95.9 ± 2.0%, p = 0.030) compared to CTRL. Furthermore, MWI was significantly reduced in children belonging to the KD group in comparison with controls (KD: 1498.3 ± 361.7 mmHg%; KD vs CTRL p = 0.028) and was comparable between KD/CADL and KD groups (KD/CADL vs KD p = 0.896). Moreover, KD/CADL patients with normal GLS (n = 38) preserved significant differences in MWI and MCW in comparison with CTRL . MWI, MCW and MWE were significantly reduced in KD children despite normal LVEF and normal GLS. These abnormalities seems independent from CADL. Thus, in KD with normal LVEF and normal GLS, estimation of MWI may be a more sensitive indicator of myocardial dysfunction.

Razionale. Le complicanze a lungo termine derivanti dall’insufficienza polmonare cronica dopo correzione chirurgica di tetralogia di Fallot (TOF) sono ben documentate. Nel nostro centro, da oltre 10 anni, sono state adottate e sviluppate tecniche innovative per preservare la valvola polmonare (VP).Materiali e metodi. Tutti i pazienti con TOF e stenosi della VP sottoposti a intervento chirurgico nel nostro centro tra gennaio 2008 e dicembre 2022 sono stati inclusi in questo studio. I pazienti sono stati sottoposti a valutazione mediante ecocardiografia durante il follow-up, confrontando quelli che hanno subito un intervento chirurgico classico con posizionamento di un patch transanulare (TAP) e quelli sottoposti a preservazione della VP.Risultati. Dei 134 pazienti, 99 (73.9%) sono stati trattati con successo utilizzando le tecniche di preservazione della VP. All’epoca dell’intervento, l’età mediana era di 4.3 mesi (range interquartile [IQR] 3.4-5.9 mesi). Lo z-score preoperatorio mediano della VP era di -2.87 (IQR -3.61;-2.48). Il tempo mediano di follow-up dall’intervento era di 6.6 anni (IQR 3.5-8.4 anni). Al follow-up mediano, la frazione di cambiamento dell’area ventricolare destra era del 47% (IQR 43-50%) nei pazienti trattati con preservazione della VP, mentre nel gruppo trattato con patch transanulare (TAP) era più bassa, pari al 43% (IQR 41-47%) (p=0.005). Questo dato era associato a una migliore funzione della VP nei pazienti trattati con preservazione. Infatti, l’insufficienza era lieve nel 12%, moderata nel 35% e severa nel 53% dei pazienti nel gruppo TAP. Al contrario, nei pazienti trattati con preservazione, l’insufficienza era lieve nel 53%, moderata nel 35% e severa nell’11% dei pazienti (p<0.001).Conclusioni. L’integrità dell’anulus e la funzione della VP possono essere preservate durante la correzione precoce della TOF. La preservazione della VP può prevenire lo sviluppo a lungo termine di insufficienza polmonare e disfunzione del ventricolo destro.

Background and Clinical Significance: Classic infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease, manifesting within the first months of life with hypertrophic cardiomyopathy and severe hypotonia. Avalglucosidase alfa is a next-generation recombinant human α-glucosidase that was recently approved for use. Clinical trials, conducted on IOPD patients already treated with alglucosidase alfa, have recommended a dosage ranging from 20 to 40 mg/kg every other week. The optimal dosage for treatment-naïve patients has not yet been established. We present a case of a severe IOPD patient who received a short-term high-dose, high-frequency regimen of avalglucosidase alfa (40 mg/kg/week). Case Presentation: The patient, a 3-month-old infant, presented with hypotonia and severe hypertrophic cardiomyopathy (left ventricular mass index (LVMI) of 136 g/m2; ejection fraction (EF) of 60%). Treatment with avalglucosidase alfa was initiated at a dose of 40 mg/kg every other week. After two weeks, cardiac function further deteriorated (LVMI of 168 g/m2; EF of 46%), so the treatment was intensified to a dose of 40 mg/kg weekly for two months. This resulted in significant clinical, biochemical, and motor improvements without adverse reactions. Following this improvement, the dosage of 40 mg/kg every other week was reinstated. At 18 months of age, the patient demonstrated normal motor development, normal cardiac function (LVMI of 49 g/m2; EF of 68%), and normal biomarkers. Conclusions: Although limited to a single patient, this case illustrates that short-term high-dose, high-frequency administration of avalglucosidase alfa could be both effective and safe, even in patients with severe, late-diagnosed IOPD.

The impact of overweight and obesity on blood pressure and cardiac remodelling in pediatric congenital heart disease (CHD) remains incompletely defined, particularly across different ventricular physiologies and cardiac anatomies. To assess the association of overweight and obesity with arterial blood pressure and cardiac remodelling in pediatric and young adult patients with CHD, according to ventricular physiology and cardiac anatomy. In this observational study, pediatric CHD patients undergoing clinical and echocardiographic evaluation were classified by weight status and ventricular physiology, with additional stratification by cardiac anatomy. Associations between body mass index (BMI), arterial hypertension, and echocardiographic parameters were analyzed. A total of 451 patients were included (mean age 13.1 ± 3.9 years; 74 univentricular, 377 biventricular). Overall, 16% were overweight and 7% obese. Hypertension was present in 16% and increased across BMI categories (14%, 26%, and 50%). BMI was associated with blood pressure category ( < 0.001), higher systolic blood pressure ( < 0.001), and increased left ventricular (LV) mass ( = 0.007), interventricular septal thickness ( < 0.001), and posterior wall thickness ( < 0.001), without evidence of systolic dysfunction. In adjusted models, overweight/obesity remained associated with worse blood pressure classification, both as a three-category outcome (OR 2.1, 95% CI 1.4-3.2; < 0.001) and as a binary outcome (OR 2.3, 95% CI 1.5-3.7; < 0.001), as well as with higher systolic blood pressure (β = 5.1 mmHg, 95% CI 2.4-7.8; < 0.001), left ventricular mass index (LVMI) (β = 10.0, 95% CI 4.3-15.8; < 0.001), interventricular septal thickness at end-diastole (IVSd) ( < 0.001), and left ventricular posterior wall in diastole (LVPWd) ( < 0.001), but not with diastolic blood pressure or systolic function. No significant associations were observed in univentricular patients, whereas in biventricular circulation higher BMI was consistently associated with worse blood pressure and remodeling, without systolic dysfunction. Excess body weight is independently associated with adverse blood pressure status and early LV structural remodelling in pediatric and young adult patients with CHD, despite preserved systolic function. These findings support early cardiovascular risk surveillance and preventive strategies targeting overweight and obesity in CHD care.