Abstract The American College of Cardiology Adult Congenital and Pediatric Cardiology (ACPC) Section had attempted to create quality metrics (QM) for ambulatory pediatric practice, but limited ...evidence made the process difficult. The ACPC sought to develop QMs for ambulatory pediatric cardiology practice. Five areas of interest were identified, and QMs were developed in a 2-step review process. In the first step, an expert panel, using the modified RAND-UCLA methodology, rated each QM for feasibility and validity. The second step sought input from ACPC Section members; final approval was by a vote of the ACPC Council. Work groups proposed a total of 44 QMs. Thirty-one metrics passed the RAND process and, after the open comment period, the ACPC council approved 18 metrics. The project resulted in successful development of QMs in ambulatory pediatric cardiology for a range of ambulatory domains.
The risk factors for superior vena cava (SVC) obstruction after pediatric orthotopic heart transplantation (OHT) have not been identified. This study tested the hypothesis that pretransplant superior ...cavopulmonary anastomosis (CPA) predisposes patients to SVC obstruction. A retrospective review of the Pediatric Cardiac Care Consortium registry from 1982 through 2007 was performed. Previous CPA, other cardiac surgeries, gender, age at transplantation, and weight at transplantation were assessed for the risk of developing SVC obstruction. Death, subsequent OHT, or reoperation involving the SVC were treated as competing risks. Of the 894 pediatric OHT patients identified, 3.1% (n = 28) developed SVC obstruction during median follow-up of 1.0 year (range: 0 to 19.5 years). Among patients who developed SVC obstruction, 32% (n = 9) had pretransplant CPA. SVC surgery before OHT was associated with posttransplant development of SVC obstruction (p <0.001) after adjustment for gender, age, and weight at OHT and year of OHT. Patients with previous CPA had increased risk for SVC obstruction compared with patients with no history of previous cardiac surgery (hazard ratio 10.6, 95% confidence interval: 3.5 to 31.7) and to patients with history of non-CPA cardiac surgery (hazard ratio 4.7, 95% confidence interval: 1.8 to 12.5). In conclusion, previous CPA is a significant risk factor for the development of post–heart transplant SVC obstruction.
AbstractTwo patients without cardiac history demonstrated type 1 Brugada pattern during hospitalization for diabetic ketoacidosis (DKA). Both patients had normalization of their ECGs after treatment ...of marked electrolyte abnormalities and metabolic acidosis. In this report, we describe two cases of Brugada phenocopy associated with DKA in children.
Objectives Unbalanced atrioventricular (AV) canal defects include a hypoplastic ventricle (HV) and AV valve (HAVV) precluding complete 2-ventricle repairs (2VRs). Catch-up growth would solve this ...problem and was induced by increasing HAVV flow. The objectives were to assess reliability of HV and HAVV growth and provide 5- to 15-year 2VR follow-up. Methods From 1990 to 2005, 23 consecutive infants (13 females and 10 males) with echo-diagnosed unbalanced AV canal defects (n = 20) or subsets (n = 3) underwent 2VRs. HV volumes (18 left and 5 right) and HAVV sizes estimated from biplane echoes and z values (standard deviation from expected) were determined. Hypoplasia was defined by a z value of less than −2.0. Three operative approaches were used: (1) Staged repairs (n = 9) had complete AVV repairs with partial atrial septal defect and ventricular septal defect closures, which increased HAVV flow and maintained stability. The septal defects were closed later. (2) An asymmetric valve partition (n = 8) was used to increase HAVV size. (3) For moderate hypoplasia, HAVV flow was increased and ASDs/VSDs were left for stability (n = 6). Follow-up at 5 to 19 years was done locally. Results Staged repairs began at 20 to 328 days (average, 129 days) and were completed 5 to 145 days later (average, 101 days). Midterm survival was 87% (20/23) after 1 central nervous system bleed after trial weaning from extracorporeal membrane oxygenation and 2 later deaths from hyperkalemia. Reoperations for AVV regurgitation (n = 3), AVV stenosis (n = 1), and mitral valve replacement (n = 1) were satisfactory. On follow-up, all hypoplastic structures (HV and HAVV) had grown to normal size. Two patients “doing well” were lost to follow-up. Survivors have satisfactory 2VRs, with 15 of 18 taking no cardiac failure medications. Conclusions Reliable HV/HAVV catch-up growth was induced, and all midterm 2VRs were satisfactory.
Abstract
Aims
Calmodulinopathy due to mutations in any of the three CALM genes (CALM1–3) causes life-threatening arrhythmia syndromes, especially in young individuals. The International ...Calmodulinopathy Registry (ICalmR) aims to define and link the increasing complexity of the clinical presentation to the underlying molecular mechanisms.
Methods and results
The ICalmR is an international, collaborative, observational study, assembling and analysing clinical and genetic data on CALM-positive patients. The ICalmR has enrolled 140 subjects (median age 10.8 years interquartile range 5–19), 97 index cases and 43 family members. CALM-LQTS and CALM-CPVT are the prevalent phenotypes. Primary neurological manifestations, unrelated to post-anoxic sequelae, manifested in 20 patients. Calmodulinopathy remains associated with a high arrhythmic event rate (symptomatic patients, n = 103, 74%). However, compared with the original 2019 cohort, there was a reduced frequency and severity of all cardiac events (61% vs. 85%; P = .001) and sudden death (9% vs. 27%; P = .008). Data on therapy do not allow definitive recommendations. Cardiac structural abnormalities, either cardiomyopathy or congenital heart defects, are present in 30% of patients, mainly CALM-LQTS, and lethal cases of heart failure have occurred. The number of familial cases and of families with strikingly different phenotypes is increasing.
Conclusion
Calmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing. There are no hard data to guide therapy, and current management includes pharmacological and surgical antiadrenergic interventions with sodium channel blockers often accompanied by an implantable cardioverter–defibrillator.
Structured Graphical Abstract
Structured Graphical Abstract
Number and percentages of patients with CALM variants and LQTS, CPVT, LQTS/CPVT overlap, IVF, UD, and SCD are reported in the upper left part of the graphical abstract together with two examples of LQTS and CPVT electrocardiograms. In the upper right part, it is shown a graphical representation of the reduction of all cardiac events and SCD between the original cohort (up to 2019) and the cases enrolled between 2019 and 2023. In the lower part, it is reported the number or percentage of CALM patients with cardiomyopathies, congenital heart defects, and neurological features. CALM, calmodulin; LQTS, long QT syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; ICD, implantable cardioverter–defibrillator; IVF, idiopathic ventricular fibrillation; UD, uncertain diagnosis; SCD, sudden cardiac death.
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