Although this study has important shortcomings due to its retrospective nature and because important variables potentially influencing outcome were not available for a substantial amount of patients, these data suggest that classical infantile Pompe disease still remains a life-threatening condition associated with high morbidity and often dismal prognosis. Currently, a relevant number of patients do not benefit definitely from ERT.

Femoral arterial thrombosis (FAT) is a nonnegligible complication after cardiac catheterization (CC) in infancy. The aim of this study was to evaluate the impact of Doppler ultrasound (US) for diagnostic work-up after catheterization. We compared standard follow-up (FU) without Doppler US by relying on clinical signs of FAT with advanced FU using Doppler US of the femoral vessels. Between January and December 2009, we evaluated the rate of FAT in infants <12 months of age using a multicenter, prospective observational survey. We analysed 171 patients [mean age 4.1 ± 3.3 (SD) months; mean body weight 5.3 ± 1.8 kg] from 6 participating centres. The mean duration of catheter studies was 57.7 ± 38.0 min. The overall rate of FAT based on clinical diagnosis was 4.7% and was comparable in both groups [3.4% undergoing standard FU vs. 7.4% undergoing advanced FU (p = 0.15)]. However, the overall rate of thrombosis as screened by Doppler US was greater at 7.1 %, especially in patients after advanced FU [18.5% advanced vs. standard FU 1.7% (p < 0.01)]. In conclusion, FAT remains a relevant and underestimated complication after catheterization in young infants when relying only on clinical signs of FAT. Therefore, to start effective treatment as soon as possible, we recommend Doppler US to be performed the day after CC.

Perventricular and intraoperative device closure of VSD is as effective as a surgical patch and averts the increased morbidity of conventional surgical repair in a subgroup of high-risk patients.

Background X-linked Duchenne muscular dystrophy (DMD), the most frequent human hereditary skeletal muscle myopathy, inevitably leads to progressive dilated cardiomyopathy. We assessed the effect and safety of a combined treatment with the ACE-inhibitor enalapril and the β-blocker metoprolol in a German cohort of infantile and juvenile DMD patients with preserved left ventricular function. Methods Trial design Sixteen weeks single-arm open run-in therapy with enalapril and metoprolol followed by a two-arm 1:1 randomized double-blind placebo-controlled treatment in a multicenter setting. Inclusion criteria: DMD boys aged 10–14 years with left ventricular fractional shortening [LV-FS] ≥ 30% in echocardiography. Primary endpoint: time from randomization to first occurrence of LV-FS < 28%. Secondary: changes of a) LV-FS from baseline, b) blood pressure, c), heart rate and autonomic function in ECG and Holter-ECG, e) cardiac biomarkers and neurohumeral serum parameters, f) quality of life, and g) adverse events. Results From 3/2010 to 12/2013, 38 patients from 10 sites were centrally randomized after run-in, with 21 patients continuing enalapril and metoprolol medication and 17 patients receiving placebo. Until end of study 12/2015, LV-FS < 28% was reached in 6/21 versus 7/17 patients. Cox regression adjusted for LV-FS after run-in showed a statistically non-significant benefit for medication over placebo (hazard ratio: 0.38; 95% confidence interval: 0.12 to 1.22; p = 0.10). Analysis of secondary outcome measures revealed a time-dependent deterioration of LV-FS with no statistically significant differences between the two study arms. Blood pressure, maximal heart rate and mean-NN values were significantly lower at the end of open run-in treatment compared to baseline. Outcome analysis 19 months after randomization displayed significantly lower maximum heart rate and higher noradrenalin and renin values in the intervention group. No difference between treatments was seen for quality of life. As a single, yet important adverse event, the reversible deterioration of walking abilities of one DMD patient during the run-in period was observed. Conclusions Our analysis of enalapril and metoprolol treatment in DMD patients with preserved left ventricular function is suggestive to delay the progression of the intrinsic cardiomyopathy to left ventricular failure, but did not reach statistical significance, probably due to insufficient sample size. Clinical trial registration DRKS-number 00000115, EudraCT-number 2009–009871-36. Electronic supplementary material The online version of this article (10.1186/s13023-019-1066-9) contains supplementary material, which is available to authorized users.

An atrial septal defect is commonly thought of as a benign cardiac lesion especially in infancy. The haemodynamic consequences for the lungs, nonetheless, can be comparable to that produced by patency of the arterial duct. In a preterm boy, this lesion led to the development of broncho-pulmonary dysplasia, and dependence on a respiratory ventilator. He could be extubated shortly after surgical closure of the septal defect.

Aspirin reduced effectively the rate of occlusion of systemic-to-pulmonary arterial shunts, and should be continued as long as the shunt is in place.

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