Diagnostic yield of implantable loop recorders: Results from the Hellenic registry.

AIMS: Implantable loop recorders (ILRs) are increasingly being used for long-term cardiac monitoring in different clinical settings. The aim of this study was to investigate the real-world performance of ILRs-including the time to diagnosis- in unselected patients with different ILR indications. METHODS AND RESULTS: In this multicenter, observational study, 871 patients with an indication of pre-syncope/syncope (61.9%), unexplained palpitations (10.4%), and atrial fibrillation (AF) detection with a history of cryptogenic stroke (CS) (27.7%) underwent ILR implantation. The median follow-up was 28.8 ± 12.9 months. In the presyncope/syncope group, 167 (31%) received a diagnosis established by the device. Kaplan-Meier estimates indicated that 16.9% of patients had a diagnosis at 6 months, and the proportion increased to 22.5% at 1 year. Of 91 patients with palpitations, 20 (22%) received a diagnosis based on the device. The diagnosis established at 12.2% of patients at 6 months, and the proportion increased to 13.3% at 1 year. Among 241 patients with CS, 47 (19.5%) were diagnosed with AF. The diagnostic yield of the device was 10.4% at 6 months and 12.4% at 1 year. In all cases, oral anticoagulation was initiated. Overall, ILR diagnosis altered the therapeutic strategy in 26.1% in presyncope/syncope group, 2.2% in palpitations group, and 3.7% in CS group in addition to oral anticoagulation initiation. CONCLUSIONS: In this real-world patient population, ILR determines diagnosis and initiates a new therapeutic management in nearly one fourth of patients. ILR implantation is valuable in the evaluation of patients with unexplained presyncope/syncope, CS and palpitations.

Descending aorta to right atrial fistula: Transcatheter embolization of a very rare anomaly with coils.

Key Clinical Message: Descending aorta to right atrial (RA) fistula is a rare and distinct clinical entity mimicking patent ductus arteriosus (PDA) and it may lead to rapid development of pulmonary vascular disease. Correct diagnosis and treatment, especially in the presence of other congenital heart defects, is very important. Interventional management is the treatment of choice. Abstract: We present a case report of a trisomy 21 infant with atrial and ventricular septal defects and small patent ductus arteriosus (PDA) complicated by the presence of descending aorta to right atrial (RA) fistula with large left to right shunt leading to rapid increase in pulmonary vascular resistance. Transcatheter occlusion of the fistula followed by closure of the PDA with Nit-Occlud coil systems led to decreased pulmonary pressure and resistance permitting successful surgical repair of the patient's intracardiac defects with good outcome over 3 years of follow-up. Descending aorta to RA fistula is a rare and distinct clinical entity mimicking PDA and its correct diagnosis and treatment, especially in the presence of other congenital heart defects, is very important as it may lead to rapid development of pulmonary vascular disease.

Abnormal origin of right pulmonary artery from the ascending aorta in an infant ("Hemitruncus").

Key Clinical Message: Anomalous origin of right pulmonary artery from the ascending aorta is a rare congenital malformation and it needs surgical management. Consequences of this condition affect lead to pulmonary hypertension and severe pulmonary vascular disease. Abstract: Anomalous origin of right pulmonary artery from the ascending aorta is a rare congenital heart malformation that results in early infant mortality affecting the right pulmonary artery more than the left. These patients are at risk for the early development of significant pulmonary hypertension. The surgical management during the early period of life is imperative.

A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study.

BACKGROUND: Homozygous truncating mutations located in the C-terminal region of the desmoplakin gene (DSP) are known to mainly cause Carvajal syndrome, an autosomal recessive syndromic form of arrhythmogenic cardiomyopathy with an extra-cardiac cutaneous phenotype. CASE PRESENTATION: Here we describe a female proband with a documented arrhythmogenic left ventricular cardiomyopathy and a syncopal episode at the age of 13, who was found homozygous for the novel DSP variant: NM_004415.4:c.8586delC, p.(Ser2863Hisfs*20) at the extreme C-terminal region of the protein, just 8 amino acids upstream the stop codon. She did not have any of the typical dermatological symptoms that characterize Carvajal syndrome. Her brother had died suddenly at the age of 18 during exercise and was found homozygous for the same variant at the post-mortem, while their parents were heterozygous. The region of origin of both parents was the same geographic area of Greece, but they were not aware of any common ancestor. Detailed clinical examination revealed that the mother displayed a mild arrhythmic phenotype, while the father was asymptomatic. CONCLUSION: These observations pinpoint to a significant functional role of the extreme C-terminal tail of the protein.

Mexiletine Treatment for Neonatal LQT3 Syndrome: Case Report and Literature Review.

Background: Early diagnosis of long QT type 3 (LQT3) syndrome during the neonatal period is of paramount clinical importance. LQT3 syndrome results in increased mortality and a mutation-specific response to treatment compared to other more common types of LQT syndrome. Mexiletine, a sodium channel blocker, demonstrates a mutation-specific QTc shortening effect in LQT3 syndrome patients. Case Presentation: A neonate manifested marked QTc prolongation after birth. An electrocardiogram (ECG) recording was performed due to positive family history of genetically confirmed LQT3 syndrome (SCN5A gene missense mutation Tyr1795Cys), and an association with sudden cardiac death was found in family members. The mexiletine QTc normalizing effect (QTc shortening from 537 to 443 ms), practical issues related to oral mexiletine treatment of our young patient, along with a literature review regarding identification and mexiletine treatment in infants with LQT3 syndrome are presented. Conclusions: Mexiletine could be considered in the treatment of high-risk LQT3 patients already in the neonatal period in addition to b-blocker therapy. Availability of standardized commercial mexiletine pediatric formulas, serum mexiletine level analyses, and future prospective studies are needed to evaluate the potential beneficial effect of early mexiletine treatment on the incidence of future acute cardiac events in these high-risk LQT syndrome patients.

Microsomal triglyceride transfer protein inhibitor (lomitapide) efficacy in the treatment of patients with homozygous familial hypercholesterolaemia.

AIMS: The aim of this study was to evaluate the effect of microsomal triglyceride transfer protein inhibitor (lomitapide) in patients with homozygous familial hypercholesterolaemia. METHODS AND RESULTS: In 12 homozygous familial hypercholesterolaemia patients treated with lipid-lowering drugs ± biweekly lipoprotein apheresis sessions (nine patients), daily lomitapide was added. The lipid profile (total cholesterol, low-density lipoprotein cholesterol, triglycerides, high-density lipoprotein cholesterol) before and after lomitapide treatment was evaluated. The follow-up period with lomitapide treatment was 3-24 months (13.8 ± 7.9). The median baseline low-density lipoprotein cholesterol level was 900 mg/dl (348-1070), after lipid-lowering drugs therapy was 383.5 mg/dl (214-866) and after lipid-lowering drugs + time-averaged level was 288 mg/dl (183.7-716.6). The addition of lomitapide lowered low-density lipoprotein cholesterol levels further by 56.8% compared to lipid-lowering drugs alone (mean reduction 262, 95% confidence interval (105.5-418.7), p = 0.005) and by 54% (mean reduction 182.9, 95% confidence interval (-342 - -23), p = 0.031) comparing to lipid-lowering drugs + lipoprotein apheresis (time-averaged level). The time-averaged level of low-density lipoprotein cholesterol in lipid-lowering drugs + lipoprotein apheresis patients compared with lipid-lowering drugs + lomitapide was 54% in favour of lomitapide (p = 0.031). CONCLUSIONS: Treatment with lomitapide in homozygous familial hypercholesterolaemia patients has a beneficial effect with a constant decrease of low-density lipoprotein cholesterol by 57% compared with classical lipid-lowering therapy and by 54% compared with classical lipid-lowering therapy and time-averaged level of low-density lipoprotein cholesterol.

Electrical storm in an acquired short QT syndrome successfully treated with quinidine.

Short QT syndrome (SQTS) is a malignant heart disorder defined by the presence of ventricular arrhythmias causing syncope and sudden cardiac arrest. The prevalence in the pediatric population is 0.05%. Quinidine is an established agent for pharmacological prophylaxis in SQTS patients, but can also terminate an electrical storm.

Ambulatory Intravenous Inotropic Support and or Levosimendan in Pediatric and Congenital Heart Failure: Safety, Survival, Improvement, or Transplantation.

End-stage heart failure (HF) frequently needs continuous inotropic support in hospital and has high morbidity and mortality in absence of heart transplantation. This study reports outcome, efficacy, and safety of continuous ambulatory inotropes (AI) and/or periodic levosimendan (LS) infusions in pediatric HF patients. The study included 27 patients, median age 9.4 (0.1-26.1) years, with severe HF (6 myocarditis, 13 dilated cardiomyopathy, 2 restrictive cardiomyopathy, 6 repaired congenital heart disease). Dobutamine and milrinone AI were administered in 21 patients through a permanent central catheter for median duration 1.0 (0.3-3.7) years. Additionally, 14 AI patients and the remaining 6 study patients received periodic LS infusions for median duration 1.1 (0.2-4.2) years. During median follow-up 2.1 (0.3-21.3) years, 4 patients died of worsening HF after 0.8-2.1 years AI, 6 patients underwent heart transplantation with only 3 survivors, while the rest remained stable out of the hospital with complications 4 line infections treated with antibiotics and 4 catheter reinsertions due to dislodgement. Severe pulmonary hypertension was reversed with AI in 2 patients, allowing successful heart-only transplantation. Therapy with AI was discontinued after 1.4-0.4 years in 6 improved myocarditis and 3 cardiomyopathy patients without deterioration. In conclusion, prolonged AI and/or LS infusions in HF are safe and beneficial even in small infants, allowing stabilization and reasonable social and family life out of the hospital. It may provide precious time for heart transplantation or myocardial remodeling, improvement, and possible discontinuation even after long periods of support.

Large single centre experience with the Cera™ and CeraFlex™ occluders for closure of interatrial communications: usefulness of the flexible rotation feature.

We present our experience with the Cera (CO) and the CeraFlex occluder (CFO) in transcatheter closure of interatrial communications (IAC). Between 2013 and 2016, 201 patients (75 males, 16 with patent foramen ovale), aged 27 ± 19 (5-75) years, underwent percutaneous closure of IAC using CO or CFO in our institution. After transoesophageal imaging, the procedure was aborted in 7 young paediatric (6-13 years old) patients (3 multiple holes, 3 too small septum, 1 leak with 38 mm occlusion balloon). The occluder was removed prior to release in 11 patients (5.7%), while occlusion was successful in 183 patients (94.3%) with 44 CO, 136 CFO, and 3 Cera multifenestrated occluders. There were no deaths, embolizations, or major complications. Small residual shunts were demonstrated in 8 patients immediately after implantation, 4 (8.5%) with CO and 4 (2.9%) with CFO, all disappearing after 3 months. Over 1.8 ± 1.7 year follow-up, all patients improved with 2 asymptomatic, transient pericardial effusions and 5 adults with transient supraventricular arrhythmias, treated medically for 6 months. IAC closure with CO and CFO proved safe with favourable success rates and few, nonserious complications. The CFO flexible rotation feature helped in conforming to various septal anatomies, minimising manoeuvres and possibly post-occlusion leaks.

Situs Inversus Totalis: Single-Stage Anatomic Repair of Complex Congenital Heart Disease.

Transposition of the great arteries occurs rarely in patients with mirror image dextrocardia and situs inversus, while the combination with severe coarctation of the descending aorta (CoA) makes the anatomy even more unusual. Therefore, it is not surprising that a case with such unusual and complicated anatomy presents unique problems when a primary definitive correction is attempted. We report a patient with situs inversus totalis and complex congenital heart disease including transposition of the great arteries and severe CoA who underwent successful complete, single-stage, anatomic correction.

Operating the blues.

A 63-year-old man bearing most signs and symptoms (facial pigmentation, degenerative arthritis, and dark urine) pertinent to his known history of alkaptonuria underwent aortic valve replacement for critical aortic stenosis. Although rare, aortic stenosis is the most common cardiac manifestation of alkaptonuric ochronosis.

Anomalous origin of the left coronary artery from the pulmonary artery associated with an accessory atrioventricular pathway and managed successfully with surgical and interventional electrophysiological treatment: a case report.

INTRODUCTION: The combination of anomalous left coronary artery origin from the pulmonary artery and an accessory pathway has not been reported previously in the medical literature. In medicine, the coexistence of two clinical causes can lead to the same clinical findings, and this can make the researcher's attempt to distinguish between the two of them and, hence, the correct diagnosis and treatment difficult. CASE PRESENTATION: A six-month-old boy from Pakistan was brought to our hospital with tachypnea and supraventricular tachycardia and, on the basis of echocardiography and multi-slice computed tomography, was diagnosed with an anomalous left coronary artery origin from the pulmonary artery. The presence of an anomalous left coronary artery origin from the pulmonary artery was not initially recognized, and left ventricular dysfunction was considered as a result of supraventricular tachycardia. He underwent direct re-implantation of the left coronary artery to the aorta using the trapdoor flap technique. Recurrent episodes of supraventricular tachycardia resistant to maximal pharmacological treatment occurred post-operatively. A left posterolateral accessory pathway was successfully ablated by using a trans-septal approach. CONCLUSIONS: It should not be forgotten by anyone that many times in medicine what seems obvious is not correct. It can be difficult to distinguish two clinical entities, and frequently one is considered a result of the other. This is the first report of the coexistence of an anomalous left coronary artery origin from the pulmonary artery and recurrent supraventricular tachycardia due to an accessory pathway in a child that was treated successfully with combined surgical and interventional electrophysiological treatment. This case may represent a first educational step in the field of congenital heart disease, that is, that anomalies such as an anomalous left coronary artery origin from the pulmonary artery may be concealed in a child with other serious cardiac problems, in this case mitral regurgitation, dilation of the left ventricle, and recurrent episodes of tachycardia.

Doppler tissue imaging evaluation of right ventricular function at rest and during dobutamine infusion in patients after repair of tetralogy of Fallot.

BACKGROUND: Reliable, non-invasive evaluation of right ventricular function, especially in congenital heart disease, is challenging. OBJECTIVES: The aim of this study was to evaluate Doppler tissue imaging (DTI) parameters of lateral tricuspid annular motion, mean rate of pressure rise during RV contraction (mean dP/dt) and indexed right ventricular (RV) stroke volume (RVSVi) as RV function indices in repaired tetralogy of Fallot (TOF). METHODS: DTI evaluation was performed in 25 repaired-TOF patients, aged 11+/-6, at rest and during dobutamine infusion and 20 controls at rest. RESULTS: TOF patients had lower (P<0.05) peak systolic velocity (Sa) (11.4+/-4 vs. 13.7+/-3.1 cm/s), early diastolic velocity (Ea) (11+/-3.1 vs. 16.3+/-3.5 cm/s) and Sa/time from onset of QRS to Sa (Sa/Q-Sa) (68.8+/-26.4 vs. 92.3+/-29.4 cm/s2) versus controls. Dobutamine increased (P<0.01) Sa (11.4+/-2.8-17.7+/-4.7 cm/s), Ea (11+/-3.1-15.6+/-3.9 cm/s), late diastolic velocity (Aa) (8.4+/-2-14.8+/-5 cm/s), Sa/Q-Sa (68.8+/-26.4-17 6.8+/-84.5 cm/s2), mean dP/dt (180+/-74-537+/-37 2 mmHg/s), and RVSVi (7.8+/-3.9-11.9+/-5.6 L/min/m2). RVSVi increase correlated (P<0.01) with that in Sa (r=0.6), Ea (r=0.5), Sa/Q-Sa (r=0.71), and mean dP/dt (r=0.57) while mean dP/dt increase correlated strongly with Sa/Q-Sa increase (r=0.88). CONCLUSION: DTI evaluation of tricuspid annular motion during dobutamine infusion in repaired TOF correlates with dP/dt and RV stroke volume and may help in assessing RV function and reserve.

Nonfluoroscopic catheter navigation for radiofrequency catheter ablation of supraventricular tachycardia in children.

BACKGROUND: Radiofrequency catheter ablation (RCA) of supraventricular tachycardia (SVT) in children is highly successful but requires exposure to radiation. Nonfluoroscopic mapping systems may significantly reduce fluoroscopy time. METHODS: Forty consecutive pediatric patients who underwent RCA for accessory pathways (AP) or AV nodal reentrant tachycardia (AVNRT) with use of a nonfluoroscopic navigation system (Ensite NavX) (group A) were compared retrospectively to 40 consecutive patients with similar diagnoses who underwent RCA with fluoroscopic guidance only (group B). RESULTS: Group A (mean age 12.1+/-2.9 years, mean weight 47+/-13.9 kg) consisted of 11 patients (27.7%) with AVNRT and 29 (72.5%) with AP. Group B (mean age 10.9+/-3.1 years, mean weight 47.1+/-17.1 kg) consisted of 7 patients (17.5%) with AVNRT and 33 (82.5%) with AP. There were no significant differences in AP location, patients with congenital heart disease, and number of radiofrequency lesions. Fluoroscopy time was significantly shorter in group A than in group B (10.4+/-6.1, range 3.1-28.8 minutes, vs 24.9+/-16.0, range 4.4-82.0 minutes, P<0.0001). Procedure duration was also significantly shorter in group A than in group B (170+/-68.5, range 90-420 minutes, vs 218+/-69.3, range 90-360 minutes, P<0.0001). Initial success was 95% in group A and 100% in group B. Tachycardia recurrences occurred in two patients in group A (5%) and six patients in group B (15%). Final success, including repeat ablations for recurrences or failures, was 100% in both groups. CONCLUSIONS: The use of a nonfluoroscopic system for catheter navigation significantly reduced fluoroscopy exposure and total procedure duration of RCA of common SVT substrates in children.

Surgical results after total transatrial/transpulmonary correction of tetralogy of Fallot.

INTRODUCTION: Surgical repair of tetralogy of Fallot is associated with low early morbidity and mortality. However, there may be late morbidity and mortality due to right ventricular dysfunction. The transatrial/transpulmonary technique may ameliorate these long-term complications. Here we present the results from our use of this approach. METHODS: A hundred sixty-three consecutive patients (age 6 months to 45 years, median 1.5 years) underwent transatrial/transpulmonary total correction in our department. In 142 patients the main pulmonary artery was augmented by an autologous pericardial patch, in 31 cases the arterioplasty was extended to the pulmonary artery branches, and pulmonary artery valvuloplasty was needed in 129 patients. A monocusp autologous pericardial valve mechanism was inserted in 14 patients. RESULTS: Patient follow up was 100% complete with a median duration of 3.05 years. There were no deaths. One patient required early reoperation to relieve residual right ventricular outflow tract (RVOT) obstruction. Median ICU and hospital stay were 3 and 11 days, respectively. At hospital discharge RVOT gradient was 13.7 +/- 13 (median 10) mmHg, while most patients (94%) had up to moderate pulmonary valve insufficiency (1 + in 63.8%, 2+ in 30.6%), and normal (92.6%) or mildly reduced (6.1%) right ventricular function. In 81% some degree of tricuspid regurgitation was noted. One patient required late reoperation for mitral valve repair. All patients are in NYHA class I or II. The degree of pulmonary valve insufficiency remains stable (69.9% with 0-1 + and 24.5% up to 2+). Likewise, tricuspid valve function remains unchanged (96% of the patients had mild or up to moderate regurgitation). There was no significant RVOT obstruction and in most patients (93.2%) right ventricular function was normal. CONCLUSION: These results compare very favorably to those reported in the literature. The medium-term findings auger well for future adverse event rates, but long-term follow up is still necessary to confirm them.

Successful surgical correction of congenital heart disease in adults: seven years' experience.

INTRODUCTION: The long term consequences of untreated or residual/recurrent lesions pose unique challenges in the growing population of adults with congenital heart disease (CHD). This study summarizes the results of the surgical treatment of these patients. METHODS: From October 1997 to October 2004, 289 patients with CHD, aged 18-72 (35+/-13.6) years, 143 men and 146 women, presented for surgery to our unit. Thirty eight patients (13.15%) had 1 to 3 prior surgical procedures. Although 137 patients (47%) were asymptomatic (NYHA I), 117 (40.5%) had mild (NYHA II), 34 (11.7%) moderate (NYHA III) and 1 (0.3%) severe (NYHA IV) symptoms. Thirty four patients had an established arrhythmia, requiring treatment in 25 (8.6%). Chromosomal anomalies were identified in 10 (3.4%) and diagnostic catheterization was required in 178 (61.5%) patients. All patients underwent complete surgical correction and in 275 (95%) of them this was performed with cardiopulmonary bypass of 107+/-74 min mean duration. RESULTS: There was 1 early death (0.34%) due to embolic stroke related to atrial fibrillation (AF). Complications occurred in 50 patients (17%) and included re-operation for bleeding (5), stroke (3), pneumothorax (12), AF (22), complete heart block requiring permanent pacemaker implantation (2), wound dehiscence (1), pericardial (7) or pleural (3) effusion requiring drainage and peripheral neuropathy (1). Median intensive care unit and hospital stay was 1 (range 1-10) and 8 (range 5-42) days respectively. Two late deaths (0.7%) occurred in patients with AF and pulmonary hypertension. At mean follow-up of 45+/-24 (range 1-82) months all other patients are well with resolution or significant improvement in their symptoms. CONCLUSION: Despite the long term deleterious effects of CHD in adult patients, surgical correction can be achieved with low mortality and acceptable morbidity. All deaths and most significant complications are related to arrhythmias.