An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES), are identifying the genetic basis of disease for 25–40% of patients. The diagnostic rate is probably influenced by when in the diagnostic process WES is used. The Finding Of Rare Disease GEnes (FORGE) Canada project was a nation‐wide effort to identify mutations for childhood‐onset disorders using WES. Most children enrolled in the FORGE project were toward the end of the diagnostic odyssey. The two primary outcomes of FORGE were novel gene discovery and the identification of mutations in genes known to cause disease. In the latter instance, WES identified mutations in known disease genes for 105 of 362 families studied (29%), thereby informing the impact of WES in the setting of the diagnostic odyssey. Our analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases. What is becoming increasingly clear is that WES will be paradigm altering for patients and families with rare genetic diseases.

Ongoing loss of sinus rhythm and late peaks in the risk of atrial flutter and death necessitate continued follow-up.

Myocardial bridging is associated with a poor outcome in children with hypertrophic cardiomyopathy. Our observations suggest that bridging is associated with myocardial ischemia

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Early postoperative atrial tachyarrhythmias, length of follow-up and atriopulmonary connection are significant independent risk factors for the presence of late atrial tachyarrhythmias.

ICD implantation can be performed without epicardial patches or transvenous high-energy leads in this population, using individualized techniques. This will allow ICD use in patients who have intracardiac shunting or are deemed too small for transvenous ICD leads. The long-term outcome and possible complications are as yet unknown in this population, and they should be monitored closely with follow-up DFTs.

To determine the incidence and risk factors for venous obstruction in children with transvenous pacing leads, 63 children were evaluated clinically and echocardiographically. Patients with abnormal clinical and/or echocardiographic findings were further investigated by venography. Thirteen patients (21%) had evidence of venous obstruction. Venography in 11 (2 refused) showed that severity of obstruction (as defined by percentage of luminal narrowing) was complete (100%) in 3, severe (> 90%) in 4, and moderate (60%-90%) in 5 (1 patient having 2 sites of obstruction). Risk factors for obstruction in 55 patients with single implantation procedures (10 with obstruction; 18%) were sought. Total cross-sectional area of lead(s) was indexed to body surface area at implantation (INDEX). Patients with obstruction had a higher mean INDEX (7.6 +/- 1.6 mm2/m2) than patients without obstruction (4.9 +/- 2.0 mm2/m2); P < 0.0002). Receiver-operator characteristic curves showed an INDEX > 6.6 mm2/m2 to best predict obstruction, with a sensitivity of 90% and specificity of 84%. Since pacing is lifelong, sizing of transvenous leads to the child is important to prevent obstruction and preserve venous access.