Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.

Introduction: LMNA-related muscular dystrophy is a rare entity that produce "laminopathies" such as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD). Heart failure, malignant arrhythmias, and sudden death may occur. No consensus exists on cardiovascular management in pediatric laminopathies. The aim was to perform an exhaustive cardiologic follow-up in pediatric patients diagnosed with LMNA-related muscular dystrophy. Methods: Baseline cardiac work-up consisted of clinical assessment, transthoracic Doppler echocardiography, 12-lead electrocardiogram, electrophysiological study, and implantation of a long-term implantable cardiac loop recorder (ILR). Results: We enrolled twenty-eight pediatric patients diagnosed with EDMD (13 patients), L-CMD (11 patients), LGMD1B (2 patients), and LMNA-related mild weakness (2 patients). Follow-up showed dilated cardiomyopathy (DCM) in six patients and malignant arrhythmias in five (four concomitant with DCM) detected by the ILR that required implantable cardioverter defibrillator (ICD) implantation. Malignant arrhythmias were detected in 20% of our cohort and early-onset EDMD showed worse cardiac prognosis. Discussion: Patients diagnosed with early-onset EDMD are at higher risk of DCM, while potentially life-threatening arrhythmias without DCM appear earlier in L-CMD patients. Early onset neurologic symptoms could be related with worse cardiac prognosis. Specific clinical guidelines for children are needed to prevent sudden death.

Transcatheter closure of large perimembranous ventricular septal defects with inlet to outlet extension with the Amplatzer Vascular Plug-II.

Transcatheter closure of perimembranous ventricular septal defect is an alternative to surgery in selected small to medium defects with a reasonable distance between the defect and the aortic or tricuspid valves. Surgical closure is generally preferred for large defects with an inlet to outlet extension, aortic malalignment, or deficient aortic rim. We report two successful cases of percutaneous closure of large perimembranous ventricular septal defects with inlet to outlet extension using an Amplatzer Vascular Plug-II via a retrograde approach. Transcatheter closure of large perimembranous ventricular septal defect with inlet to outlet extension is feasible and facilitated by the characteristics of the Amplatzer Vascular Plug-II device and the specific implantation technique.

The heart after surviving twin-to-twin transfusion syndrome.

BACKGROUND: The persistent changes in cardiac structure and function in children who survived twin-to-twin transfusion syndrome remain a matter of concern and controversy. Current fetal echocardiographic parameters and their postnatal evolution can help improve our understanding of the subject. OBJECTIVE: To describe the echocardiographic changes of monochorionic fetuses affected by twin-to-twin transfusion syndrome, the recipient and the donor, before and after laser photocoagulation and to determine their evolution in the third trimester and during their first year of life. STUDY DESIGN: An observational study was conducted including 55 uncomplicated monochorionic diamniotic twins and 78 pairs with twin-to-twin transfusion syndrome, 44 stage I-II and 34 stage III-IV, prospectively enrolled from 2015 until 2018. Comprehensive echocardiography was performed at 4 time periods: before laser photocoagulation, at 24 to 72 hours after surgery, at 28 to 30 weeks of gestation, and at 6 to 12 months after birth. Echocardiographic parameters were transformed to z-scores or indexed for heart area, estimated fetal weight, or body mass surface. RESULTS: At diagnosis, recipients in all stages presented larger hearts (cardiothoracic ratio z-score: 2.77 [0.8] vs controls: -0.03 [0.5]; P<.001) and signs of ventricular hypertrophy (left end-diastolic ventricle wall thickness: 2.68 [0.7] vs controls -0.03 [0.7]; P<.001), along with systolic (cardiac index recipients: 317 [114] mL/min/kg vs controls: 400 [120] mL/min/kg, P<.001) and diastolic impairment (isovolumetric relaxation time z-score: 2.76 [0.6] vs controls: 0.05 [0.6]; P<.001). Donors presented smaller ventricular areas and diameters when compared with controls (left end-diastolic ventricle area z-score: -1.48 [1] vs 0.03 [0.9]; P<.001), along with decreased longitudinal motion (tricuspid annular plane systolic excursion z-score: -0.9 [1] vs controls -0.04 [1]; P<.001) and shorter ejection time z-score (-1.5 [0.7] vs controls: 0.0 [0.7]; P<.001). After surgery, an improvement in functional parameters was observed in both fetuses, whereas most morphometric changes prevailed in donors and recipients in the prenatal period. Postnatally, cardiac remodeling persisted in recipients (left relative wall thickness: 0.34 [0.02] vs controls: 0.30 [0.02]; P<.001), whereas donors mainly presented a decreased longitudinal motion in infancy (tricuspid annular plane systolic excursion z-score: -0.72 [0.7] vs controls: 0.23 [0.9]; P<.05). CONCLUSION: Cardiac remodeling is present in both fetuses at the twin-to-twin transfusion syndrome diagnosis, whereas diastolic dysfunction is only significant in the recipient. Fetal therapy improves most echocardiographic parameters, although postnatally, the echocardiographic changes persist in both fetuses.

Improved ventilation in premature babies after transcatheter versus surgical closure of patent ductus arteriosus.

AIMS: Patent ductus arteriosus (PDA) is common in preterm infants and can contribute to morbidity and mortality. We aimed to compare results and outcome of transcatheter closure using the Amplatzer Piccolo Occluder versus surgical closure in 2 matched groups of preterm infants weighing <3000 g. METHODS AND RESULTS: A total of 147 babies from three tertiary centres were retrospectively analysed. Sixty-four babies undergoing catheter closure were compared with 83 matched surgical cases. Patent ductus arteriosus closure was successful in all cases. During neonatal unit course, mortality was 6.3% (n = 4) after catheterization and 12% (n = 10) after surgery (p = 0.24). Median duration of mechanical ventilation was shorter after catheterisation than after surgery (3 vs 5 days, p = 0.035). Before 4 weeks of age the difference between transcatheter and surgical closure for mechanical ventilation was even more pronounced (3 vs 9 days, p = 0.022). Additionally, when catheterisation was performed before 4 weeks, babies were discharged home earlier as compared to those who underwent closure later in life (39+1 vs. 42+1 weeks, p = 0.021). Such difference was not found in the surgical group. CONCLUSIONS: Transcatheter closure of patent ductus arteriosus is safe, effective and is associated with shorter mechanical ventilation than after surgery. Hospital stay might be shorter when performed earlier in life.

Neonatal Non-compacted Cardiomyopathy: Predictors of Poor Outcome.

Non-compacted cardiomyopathy (NCM) is a heterogenous myocardial disorder. Although much has been published in recent years, little is known about NCM in the neonatal period. The objective of this study is to characterize the involvement of newborns affected with NCM and to identify risk factors associated with increased mortality. This is a retrospective study including all neonates diagnosed with NCM between 2006 and 2018. Diagnosis was based on echocardiographic findings. Data were collected regarding prenatal history, gestational age and weight at birth, gender, age at diagnosis, left or biventricular involvement and associated malformations, medical and surgical treatments, and evolution. Fourteen patients were included. The median follow-up duration was 34 months (range 1-87 months). The left ventricular apex and lateral wall were involved in all cases (100%). Thirteen patients (92.8%) had other associated heart malformations. Six patients (42.8%) died during the follow-up period. Patients who had biventricular involvement and poor ventricular function presented a higher risk of death. The main cause of death was ventricular dysfunction (5/6 [83.3%]). During follow-up, eight patients (57.1%) underwent surgery for their cardiac malformations, without higher mortality. NCM must be included in the differential diagnosis of neonatal cardiomyopathy. The higher mortality observed in our series is related not only to the high association with congenital heart disease, but also to a greater presence of early and severe left ventricular dysfunction. We did not find that patients who underwent surgery with cardiopulmonary bypass had worse outcomes.

Cone reconstruction is feasible in babies under 2 kg of weight.

Symptomatic neonates with Ebstein anomaly present with intractable heart failure. We present the first successful cone reconstruction in an ex 30 + 4-week premature below 2 kg with a favourable outcome.

Patent Ductus Arteriosus Banding for Circular Shunting After Pulmonary Valvuloplasty.

We report two cases of newborns with critical pulmonary stenosis having intact ventricular septum, who underwent pulmonary valve balloon valvuloplasty followed by banding of a patent ductus arteriosus. Transcatheter pulmonary valvuloplasty was performed one week after delivery. Following the procedure, both developed "circular shunting" as a consequence of left-to-right ductal flow and pulmonary regurgitation. This in turn caused increased blood flow into a dysfunctional right ventricle and low systemic cardiac output syndrome. The PDA banding was performed urgently as a rescue measure in order to restore systemic flow while still maintaining some duct-dependent pulmonary blood flow. This approach resolved the circular shunting. Outcome was favorable in both the patients.