Early and late outcomes after surgical management of congenital vascular rings.

Persistent respiratory or feeding problems in children may be associated with a congenital vascular ring. Surgical management is fairly standardized, but long-term outcomes are not well described. This study aims to investigate clinical presentation, surgical treatment, and risk factors for early mortality and late outcome. Our database revealed 62 surgically treated vascular ring patients between 1993 and 2014. Double aortic arch was the most common diagnosis (53%). Median age at operation was 1 year. Symptoms were mainly respiratory (89%) and feeding problems (32%). Median extubation time and hospital stay were 4 h and 5 days. Mean follow-up was 7.8 ± 5.8 years. Early mortality was 8% and was related to anatomical diagnosis, concomitant anomalies, and a need for preoperative intubation. Freedom from residual symptoms at 1 and 6 months was 63 and 82%, respectively. Freedom from inhalation therapy at the last follow-up was 82% and was influenced by a type of vascular ring and preoperative ventilation. Dysphagia symptoms always disappeared. CONCLUSION: Surgical relief of tracheoesophageal compression is commonly effective in vascular ring anomalies. Respiratory symptoms necessitating chronic inhalation therapy only persist in a minority of children. Patients with double aortic arch are at increased risk to remain symptomatic, particularly with infectious exacerbations.

Postnatal Outcome of Fetal Left Ventricular Hypertrabeculation/Noncompaction.

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology. Prenatal diagnosis of LVHT can be established by fetal echocardiography. A review of 106 published cases showed that 46 cases with prenatally diagnosed LVHT were alive 0.5-120 months after birth. Since the course of cases with prenatally LVHT after publication is unknown, we aimed to collect follow-up-information. Information regarding vital status, cardiac and extracardiac morbidity was gathered by contacting the authors of the 46 cases. Fourteen of the 28 authors answered and gave information about 18 cases (six females, seven males, five gender-unknown, age 18 months to 10 years, mean follow-up 60 months). No differences were found between the 18 cases with follow-up and the 28 cases without follow-up regarding age, gender, cardiac or extracardiac comorbidities, and interventions. Three of the 18 cases had died subsequently from heart failure, osteosarcoma, and enterocolitis, respectively. Mutations or chromosomal abnormalities were found in six of the seven examined patients, extracardiac abnormalities in nine patients. Three patients received a pacemaker because of complete AV block, and two patients underwent heart transplantation. Cardiac surgical or interventional procedures were carried out in four patients. None suffered from malignant arrhythmias or had a cardioverter-defibrillator implanted. Based on the limited information, there are indications that cases with fetal diagnosis of LVHT have a continuing morbidity and mortality, even if they receive appropriate care. Since fetal LVHT is frequently associated with genetic abnormalities, further research about survival and underlying genetic causes is needed.

QT correction methods in infants and children: effects of age and gender.

BACKGROUND: Accurate determination of the QTc interval in children is important especially when using drugs which can prolong cardiac repolarization. Previous work suggests the most appropriate correction formula to be QTc = QT/RR(0.38) . We set out to compute the best population-derived age and gender-related QT correction formula factor in normal children. METHODS: We evaluated a cohort of 1400 healthy children. From a resting 12-lead electrocardiogram, QT and RR intervals were measured. Subjects were divided into four age and gender groups: 0-1 years (n = 540); 1-5 years (n = 281); 5-10 years (n = 277), and > 10 years (n = 302). QT/RR intervals were plotted and fitted with two regression analyses, linear regression obtaining constant α (QTc = QT + α x (1-RR)), and log-linear analysis deriving constant ß (QTc = QT/RR(ß) ). Furthermore, regression analysis of QTc/RR for the two formulas was performed obtaining slope and R(2) . RESULTS: Correction constant α decreased steadily with increasing age, genders remained on par until 10 years of age followed by more pronounced decrease in females (range 0.24-0.18). The ß constant showed a similar trend however with more pronounced decline (range 0.45-0.31). Regression slopes of QTc/RR plots (all ages and both genders) were close to zero (both formulas). CONCLUSION: For the full range of pediatric subjects, the optimum population-based correction factors α and ß decreased with increasing age and gender, digressing more so in adolescent girls. More specific correction factors, based on age and gender, are necessary in QT correction.

First experience of monitoring with cardiac event recorder electrocardiography Omron system in childhood population for sporadic, potentially arrhythmia-related symptoms.

AIMS: To document symptomatic episodes of palpitations with traditional methods such as24 h Holter monitoring (HM) or loop recorders remains a big challenge in clinical practice. Clinical trials with patient-activated electrocardiography (ECG) recorders show increased diagnostic yield in such patients. However, studies in the paediatric population are limited. We want to present a first experience with an event-recording system Omron HeartScan in children with symptomatic palpitations. METHODS AND RESULTS: Thirty paediatric patients (age 4-16 years) were followed with the Omron at our centre. All patients had a normal echocardiogram, a normal baseline 12-lead ECG and a normal 24 h HM. Indications with regard to monitoring were palpitations (n = 30). Two of them also had episodes of pre-syncope. The average of palpitation episodes in the past 3 months was 13.2 ± 8.3. The mean age of the study population was 9.7 ± 2.3 years [17 males (56.7 %)]. In all patients (n = 30) a diagnostic event could be recorded with the studied system. Four patients were diagnosed with supraventricular tachycardia (SVT) and underwent catheter ablation. The remaining patients (n = 26; 87%) were diagnosed with sinus tachycardia. Two patients with SVT additionally had episodes of pre-syncope. None of the patients could be diagnosed with previous 24 h HM. CONCLUSION: This event recorder has a high diagnostic yield in the childhood population. The children enjoyed the ease of using the system under daily-life conditions. In this study the system was able to record a diagnostic event in all patients with palpitations.

Ruptured sinus of Valsalva aneurysm in a child with Down syndrome: a rare cardiac anomaly.

BACKGROUND: As many as forty to fifty per cent of children with Down syndrome are born with a cardiac anomaly. Sinus of Valsalva aneurysm in this syndrome is extremely rare, only three previous reports, and of adult onset. CASE REPORT: An asymptomatic 9 and a half year boy with Down syndrome presented with a cardiac murmur at routine examination. Clinical examination, transthoracic and transesopahageal echocardiography revealed the presence of a ruptured sinus of Valsalva aneurysm from the non - coronary sinus protruding into the right atrium. The child underwent successful surgical repair with full recovery. CONCLUSIONS: This fourth case report of sinus of Valsalva aneurysm occurring in association with Down syndrome is the youngest to date. Physicians caring for Down syndrome patients ought to be aware of this late onset cardiac malformation. Serial echocardiographic assessment of the aortic sinus of Valsalva in these patients may offer early detection.

Behavior of the electrocardiographic T peak to end interval in childhood.

BACKGROUND: The T-wave peak to T-wave end (TpTe) interval reflects spatial and transmural dispersion in repolarization and serves as an arrhythmogenic index. Normal TpTe interval data in children are lacking. We evaluated the effects of age, gender, heart rate, leads (II and V(5)) on TpTe and T-wave voltage. METHODS: Four hundred healthy children (age 4 days to 16.7 years) were enrolled. From a resting 12-lead digital ECG, TpTe, RR, QT, JT intervals, and T amplitude were measured (leads II and V(5)). Bazett and Fridericia formulas were applied to TpTe for heart rate correction and TpTe/QT and TpTe/JT were calculated. Descriptive and analytical statistics were applied, significance level set at P < or = 0.05. RESULTS: TpTe in leads II and V(5) correlate well. Contrary to adults, no gender differences in TpTe were observed in childhood. TpTe lengthens with increasing age, and is inversely related to heart rate. TpTe 98th percentile is 85 msec in first 5 years, increasing to 92 msec in adolescence. TpTe Fridericia is a good correction formula in childhood; TpTe Bazett overcorrects in the younger age. TpTe/QT and TpTe/JT are longer in younger subjects due to greater QT shortening than the TpTe interval at higher heart rates. CONCLUSIONS: In children, TpTe in lead II and V(5) correlate well. The TpTe interval lengthens with advancing age as heart rate diminishes. TpTe Fridericia is a good correction formula in children. Younger subjects have higher TpTe/QT and TpTe/JT indices compared to older children. T-wave voltage increases with age, tallest in the 5-10-year-age group particularly in V(5).

Congenital heart disease in 111 225 births in Belgium: birth prevalence, treatment and survival in the 21st century.

AIM: To investigate the birth prevalence, treatment modalities and short-term survival of children with congenital heart disease who were born in 2002. METHODS: We undertook a retrospective review of medical records of all patients who were born in 2002, and were diagnosed, treated and/or followed-up in one of the seven-paediatric cardiology programmes in Belgium. RESULTS: In 111 225 births, 921 children with congenital heart disease were detected, yielding a birth prevalence of 8.3 per 1000. The most frequently occurring conditions were ventricular septal defects (VSDs) (33%), ostium secundum atrial septal defects (18%) and pulmonary valve abnormalities (10%). Thirty-nine percent of the children either had a cardiosurgical operation or catheter intervention. In this study, 4% of the children died. The actuarial survival at 6 months and 1 year of age was 97% and 96%, respectively and remained stable after then. Compared to other heart defects, mortality was higher in univentricular physiology, pulmonary atresia with VSD, left ventricle outflow obstruction and tetralogy of Fallot. CONCLUSION: Survival of congenital heart disease is excellent and continued to improve in the early 21st century. New therapeutic options are increasingly used. This study provides baseline data for the longitudinal follow-up of this cohort.

QT interval prolongation in future SIDS victims: a polysomnographic study.

OBJECTIVE: Previous data have suggested that a prolonged QTc interval during the first days of life can be associated with some cases of sudden infant death syndrome (SIDS). Analysis of heart rate variability during sleep in future SIDS victims has shown findings compatible with an imbalance in autonomic tone. We hypothesized that some future SIDS infants could have longer QTc intervals during sleep, compared with healthy control infants, and that this difference would correlate with the autonomic imbalance already found in these infants. METHODS: QTc intervals and a heart rate autoregressive power spectral analysis were calculated during the same periods in the polysomnographic sleep recordings of 18 infants who eventually died of SIDS and of 18 control infants. The control infants were matched for sex, gestational age, postnatal age, birth weight, and sleep position. The median postnatal age was 8 weeks. RESULTS: Compared with control infants, future SIDS victims were characterized by having longer QTc intervals during total sleep (P = 0.019), rapid eye movement sleep (P = 0.045) and non-rapid eye movement sleep (P = 0.029). When the night was divided into 3 equal parts, this difference was always present but was most marked during the last part of the night. There was, respectively, a negative and a positive correlation between parasympathetic activity and sympathovagal balance and median and maximum QTc interval values. CONCLUSION: Compared with QTc intervals in matched control infants, QTc intervals were increased in future SIDS victims. Such a prolongation could be related to the autonomic dysfunction already reported in these patients.

Anticoagulant drugs in noncompaction: a mandatory therapy?

BACKGROUND: Noncompaction of left ventricular myocardium is a rare congenital cardiomyopathy resulting from an incomplete myocardial morphogenesis that leads to the persistence of the embryonic myocardium. This condition is characterized by a thin compacted epicardial and an extremely thickened endocardial layer with prominent trabeculations and deep intertrabecular recesses. It is not clear, in noncompaction of myocardium, whether intertrabecular recesses could be responsible for thrombi formation and thromboembolic complications. METHODS: The prevalence of stroke and echocardiographic finding of thrombus was evaluated in a continuous series of 229 patients (men and women) affected by noncompaction of the left ventricular myocardium, who were included in the SIEC registry. We excluded patients affected by atrial fibrillation. RESULTS: The mean age of the patients was 49.5 years. Fifty percent of the patients were affected by a ventricular systolic dysfunction. The mean period of follow-up was 7.3 years. Only four patients had a history of ischemic stroke. A large thrombus into the left ventricular chamber was observed in a 1-year-old child affected by Behcet's disease (high risk of thrombi formation). CONCLUSION: Noncompaction of the left ventricular myocardium, by itself, does not seem to be a risk factor for stroke or embolic results, so there is no indication for oral anticoagulant therapy.

Supraventricular arrhythmias in noncompaction of left ventricle: is this a frequent complication?

BACKGROUND: Isolated left ventricular noncompaction is the result of incomplete myocardial morphogenesis, leading to persistence of the embryonic myocardium. The condition is recognised by an excessively prominent trabecular meshwork and deep intertrabecular recesses of the left ventricle. Whether these intertrabecular recesses are a favorable substrate for supraventricular arrhythmias is unclear, even if the incidence of chronic heart failure seems to be high. RESULTS: We evaluated a continuous series of 238 patients affected by noncompaction. In 4 cases the patients reported palpitations and in 4 an episode of syncope. Periodic holter monitoring was performed every 6 months for 4 years. Only 9 patients had documented atrial fibrillation. In no cases we observed supraventricular tachycardia. CONCLUSIONS: Noncompaction alone does not seem to be a risk factor for supraventricular arrhythmias.

Ventricular tachycardia in non-compaction of left ventricle: is this a frequent complication?

BACKGROUND: Isolated left ventricular non-compaction is the result of incomplete myocardial morphogenesis, leading to persistence of the embryonic myocardium. The condition is recognized by an excessively prominent trabecular meshwork and deep intertrabecular recesses of the left ventricle. Whether these intertrabecular recesses are a favorable substrate for ventricular arrhythmias is unclear. Some reports have found that the fatal ventricular arrhythmias may occur in approximately half of the patients. In this report we investigated about this association. METHODS AND RESULTS: In total we evaluated a continuous series of 238 patients affected by non-compaction. Periodic Holter monitoring was performed every 6 months for 4 years. Only 11 patients had documented ventricular tachycardia, which was sustained in two cases and non-sustained in nine. In no cases we observed ventricular fibrillation. CONCLUSIONS: Non-compaction alone does not seem to be a risk factor for malignant ventricular arrhythmias.

Prenatal diagnosis of absent pulmonary valve syndrome in association with 22q11 deletion.

OBJECTIVE: To describe the prenatal sonographic appearances in cases of absent pulmonary valve syndrome and the importance of investigating the presence of 22q11 deletion. METHODS: We describe 2 cases, which were referred because of a suspicion of a cardiac malformation. In both cases, a large anechoic mass emerging from the right ventricle was visualized and identified as an aneurysmal dilatation of the pulmonary trunk with hypertrophy of the right ventricle. The diagnosis of tetralogy of Fallot with absent pulmonary valve syndrome and a secondary diverticular dilatation of the pulmonary artery was made. A review of the literature revealed another 18 cases of prenatal diagnosis of absent pulmonary valve syndrome with or without knowledge of chromosomal abnormalities. RESULTS: Pathologic examinations confirmed the diagnosis of absent pulmonary valve syndrome in both cases. Final results of fetal karyotyping revealed a 22q11 deletion in the first case. CONCLUSIONS: An abnormal 4-chamber view with an aneurysmal dilatation of the pulmonary trunk should suggest the diagnosis of this rare congenital anomaly. Perinatal death occurs in more than 60% of cases and is usually associated with hydrops fetalis, the presence of other malformations, or both. Even in the absence of extracardiac malformations, investigation for 22q11 deletion in cases of conotruncal cardiac abnormalities is recommended.

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

BACKGROUND: Mutations in the cardiac ryanodine receptor gene (RyR2) underlie catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmogenic disease occurring in the structurally intact heart. The proportion of patients with CPVT carrying RyR2 mutations is unknown, and the clinical features of RyR2-CPVT as compared with nongenotyped CPVT are undefined. METHODS AND RESULTS: Patients with documented polymorphic ventricular arrhythmias occurring during physical or emotional stress with a normal heart entered the study. The clinical phenotype of the 30 probands and of 118 family members was evaluated, and mutation screening on the RyR2 gene was performed. Arrhythmias documented in probands were: 14 of 30 bidirectional ventricular tachycardia, 12 of 30 polymorphic ventricular tachycardia, and 4 of 30 catecholaminergic idiopathic ventricular fibrillation; RyR2 mutations were identified in 14 of 30 probands (36% bidirectional ventricular tachycardia, 58% polymorphic ventricular tachycardia, 50% catecholaminergic idiopathic ventricular fibrillation) and in 9 family members (4 silent gene carriers). Genotype-phenotype analysis showed that patients with RyR2 CPVT have events at a younger age than do patients with nongenotyped CPVT and that male sex is a risk factor for syncope in RyR2-CPVT (relative risk=4.2). CONCLUSIONS: CPVT is a clinically and genetically heterogeneous disease manifesting beyond pediatric age with a spectrum of polymorphic arrhythmias. beta-Blockers reduce arrhythmias, but in 30% of patients an implantable defibrillator may be required. Genetic analysis identifies two groups of patients: Patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events. These data provide a rationale for prompt evaluation and treatment of young men with RyR2 mutations.