Familial hypercholesterolemia is a genetic disease with plasma total cholesterol especially low-density lipoprotein-cholesterol elevation. In this study, we aimed to examine the changes in the electrocardiographies of children with familial hypercholesterolemia.

Electrocardiography of 85 patients with a diagnosis of familial hypercholesterolemia, followed up from the Pediatric Metabolism and Pediatric Cardiology outpatient clinic was examined. Electrocardiography of 83 children from the control group who did not have hypercholesterolemia in a similar gender and age range were examined. Heart rate, P wave, PR interval, P wave dispersion, QRS wave, QT interval, corrected QT (calculated with Bazett formula), Tpeak-end interval, QT dispersion, corrected QT dispersion, JT interval, corrected JT (calculated with Bazett formula) were statistically compared.

P wave, PR interval, and P wave dispersion values were significantly higher (p < 0.05) in the children with familial hypercholesterolemia. Corrected QT, QT dispersion, corrected QT dispersion, JT interval, corrected JT, Tpeak-end interval were significantly higher than the control group (p < 0.05) in children with familial hypercholesterolemia. These statistical differences in electrocardiography parameters support the risk of atrial and/or ventricular arrhythmia in children with familial hypercholesterolemia.

We found that high total cholesterol and low-density lipoprotein-cholesterol variables are associated with an increased risk of cardiac atrial and/or ventricular arrhythmia. The findings suggest that total cholesterol and low-density lipoprotein-cholesterol variability can be used as a new marker for the risk of cardiac arrhythmia. In this case, decreasing total cholesterol and low-density lipoprotein-cholesterol variability below certain thresholds may decrease the risk of cardiac arrhythmia.

This study aimed to evaluate the early outcomes of patients who underwent a concomitant therapeutic maze procedure for congenital heart surgery.

Between 2019 and 2020, eight patients underwent surgical cryoablation by using the same type of cryoablation probe.

Three patients had atrial flutter, two had Wolf–Parkinson–White syndrome, two intra-atrial reentrant tachycardia, and one had atrial fibrillation. Four patients underwent electrophysiological study. Preoperatively, one patient was on 3, two were on 2, five were on 1 antiarrhythmic drug. Six patients underwent right atrial maze and two underwent bilateral atrial maze. Five out of six right atrial maze patients underwent right atrial reduction. Nine different lesion sets were used. Some of the lesions were combined and applied as one lesion. In Ebstein’s anomaly patients, the lesion from coronary sinus to displaced tricuspid annulus was delicately performed. The single ventricle patient with heterotaxy had junctional rhythm at the time of discharge and was the only patient who experienced atrial extrasystoles 2 months after discharge. Seven of the eight patients were on sinus rhythm. No patient needed permanent pacemaker placement.

Cryomaze procedure can be applied in congenital heart diseases with acceptable arrhythmia-free rates by selecting the appropriate materials and suitable lesion sets. The application of cryomaze in heterotaxy patients can be challenging due to differences in the conduction system and complex anatomy. Consensus with the electrophysiology team about the choice of the right–left or biatrial maze procedure is mandatory for operational success.

Emergency department (ED) patients with atrial fibrillation or flutter (AFF) with underlying occult condition such as sepsis or heart failure, and who are managed with rate or rhythm control, have poor prognoses. Such conditions may not be easy to identify early in the ED evaluation when critical treatment decisions are made. We sought to develop a simple decision aid to quickly identify undifferentiated ED AFF patients who are at high risk of acute underlying illness.

We collected consecutive ED patients with electrocardiogram-proven AFF over a 1-year period and performed a chart review to ascertain demographics, comorbidities, and investigations. The primary outcome was having an acute underlying illness according to prespecified criteria. We used logistic regression to identify factors associated with the primary outcome, and developed criteria to identify those with an underlying illness at presentation.

Of 1,083 consecutive undifferentiated ED AFF patients, 400 (36.9%) had an acute underlying illness; they were older with more comorbidities. Modeling demonstrated that three predictors (ambulance arrival; chief complaint of chest pain, dyspnea, or weakness; CHA2DS2-VASc score greater than 2) identified 93% of patients with acute underlying illness (95% confidence interval [CI], 91–96%) with 54% (95% CI, 50–58%) specificity. The decision aid missed 28 patients; (7.0%) simple blood tests and chest radiography identified all within an hour of presentation.

In ED patients with undifferentiated AFF, this simple predictive model rapidly differentiates patients at risk of acute underlying illness, who will likely merit investigations before AFF-specific therapy.

The initial classic Fontan utilising a direct right atrial appendage to pulmonary artery anastomosis led to numerous complications. Adults with such complications may benefit from conversion to a total cavo-pulmonary connection, the current standard palliation for children with univentricular hearts.

A single institution, retrospective chart review was conducted for all Fontan conversion procedures performed from July, 1999 through January, 2017. Variables analysed included age, sex, reason for Fontan conversion, age at Fontan conversion, and early mortality or heart transplant within 1 year after Fontan conversion.

A total of 41 Fontan conversion patients were identified. Average age at Fontan conversion was 24.5 ± 9.2 years. Dominant left ventricular physiology was present in 37/41 (90.2%) patients. Right-sided heart failure occurred in 39/41 (95.1%) patients and right atrial dilation was present in 33/41 (80.5%) patients. The most common causes for Fontan conversion included atrial arrhythmia in 37/41 (90.2%), NYHA class II HF or greater in 31/41 (75.6%), ventricular dysfunction in 23/41 (56.1%), and cirrhosis or fibrosis in 7/41 (17.1%) patients. Median post-surgical follow-up was 6.2 ± 4.9 years. Survival rates at 30 days, 1 year, and greater than 1-year post-Fontan conversion were 95.1, 92.7, and 87.8%, respectively. Two patients underwent heart transplant: the first within 1 year of Fontan conversion for heart failure and the second at 5.3 years for liver failure.

Fontan conversion should be considered early when atrial arrhythmias become common rather than waiting for severe heart failure to ensue, and Fontan conversion can be accomplished with an acceptable risk profile.

Outcome analyses in large administrative databases are ideal for rare diseases such as Becker and Duchenne muscular dystrophy. Unfortunately, Becker and Duchenne do not yet have specific International Classification of Disease-9/-10 codes. We hypothesised that an algorithm could accurately identify these patients within administrative data and improve assessment of cardiovascular morbidity.

Hospital discharges (n=13,189) for patients with muscular dystrophy classified by International Classification of Disease-9 code: 359.1 were identified from the Pediatric Health Information System database. An identification algorithm was created and then validated at three institutions. Multi-variable generalised linear mixed-effects models were used to estimate the associations of length of stay, hospitalisation cost, and 14-day readmission with age, encounter severity, and respiratory disease accounting for clustering within the hospital.

The identification algorithm improved identification of patients with Becker and Duchenne from 55% (code 359.1 alone) to 77%. On bi-variate analysis, left ventricular dysfunction and arrhythmia were associated with increased cost of hospitalisation, length of stay, and mortality (p<0.001). After adjustment, Becker and Duchenne patients with left ventricular dysfunction and arrhythmia had increased length of stay with rate ratio 1.4 and 1.2 (p<0.001 and p=0.004) and increased cost of hospitalization with rate ratio 1.4 and 1.4 (both p<0.001).

Our algorithm accurately identifies patients with Becker and Duchenne and can be used for future analysis of administrative data. Our analysis demonstrates the significant effects of cardiovascular disease on length of stay and hospitalisation cost in patients with Becker and Duchenne. Better recognition of the contribution of cardiovascular disease during hospitalisation with earlier more intensive evaluation and therapy may help improve outcomes in this patient population.

SCN5A encodes sodium-channel α-subunit Nav1.5. The mutations of SCN5A can lead to hereditary cardiac arrhythmias such as the long-QT syndrome type 3 and Brugada syndrome. Here we sought to identify novel mutations in a family with arrhythmia.

Genomic DNA was isolated from blood of the proband, who was diagnosed with atrial flutter. Illumina Hiseq 2000 whole-exome sequencing was performed and an arrhythmia-related gene-filtering strategy was used to analyse the pathogenic genes. Sanger sequencing was applied to verify the mutation co-segregated in the family.

A novel missense mutation in SCN5A (C335R) was identified, and this mutation co-segregated within the affected family members. This missense mutation was predicted to result in amplitude reduction in peak Na+ current, further leading to channel protein dysfunction. Our study expands the spectrum of SCN5A mutations and contributes to genetic counselling of families with arrhythmia.