Do quantitative levels of cardiac troponin I implicate on severity of disease in children, adolescences, and young adults with acute myocarditis and myopericarditis?

OBJECTIVES: When cardiac muscle damage occurs, cardiac troponins are released to blood and their detection is used as a marker in clinical setting. The prognostic value of the quantitative levels of blood troponin I in cases of myocarditis and myopericarditis is unclear. The aim of this study was to analyse whether troponin quantitative blood levels can be correlated with the course of hospitalisation and prognosis. METHODS: Retrospective data was collected from all consecutive patients aged ≤30 hospitalised with a diagnosis of acute myocarditis or acute myopericarditis in our health Care Campus between the years 2010-2016. RESULTS: Ninety-three patients with myocarditis and myopericarditis were identified. Higher peak troponin levels correlated with longer hospitalisation times in the cardiac or paediatric wards (p = 0.03, Pearson correlation: r -0.23), and median troponin level at admission correlated with longer overall hospitalisation (p = 0.026, Pearson correlation: r = 0.23). Patients admitted to ICU, received oral cardiac supportive therapy or that were discharged with cardiac drugs had higher median troponin compared to patients who were not but this was not statistically significant. A small group of patients that needed intravenous cardiac support had significantly lower median peak troponin levels (n = 4, 0.375ng/ml, p = 0.048). Only two patients needed extracorporeal membrane oxygenation support, and one died. The small number of patients precludes statistical analysis. CONCLUSION: Higher troponin levels correlated significantly with longer hospitalisation, lower troponin values correlated with intravenous cardiac support, while other variables related to the severity of disease could not be significantly related to higher troponin levels.

The Role of Affect as a Mediator between Coping Resources and Heart Rate Variability among Older Adults.

BACKGROUND: Heart rate variability (HRV) has been suggested as an indicator of capacity to adapt effectively to physiological or environmental challenges and of physical and psychological health in old age. AIMS: The study assessed levels of high-frequency HRV (HF-HRV) among older adults in relation to positive and negative affect and the mediating role of positive and negative affect in the association between coping resources (perceived social support and sense of mastery) and HF-HRV. METHOD: Participants were 187 men and women in three assisted-living residences who were independent in activities of daily living (93.4% participation rate). The participants completed sense of mastery, multidimensional scale of perceived social support, and positive and negative affect questionnaires. HF-HRV was derived from electrocardiography data measured by a Holter monitoring device for 15 minutes. RESULTS: The empirical model showed good fit indices indicating that higher HF-HRV was associated with lower negative affect, and negative affect mediated the association between perceived social support and HF-HRV. In addition, perceived social support and sense of mastery were associated with higher positive affect and lower negative affect. CONCLUSIONS: Although this was a cross-sectional study, it suggests that HF-HRV may be a link between affect and health in old age. It also suggests the importance of identification and intervention with older adults and their support systems to reduce negative affect.

Superior vena cava-right atrium junction flow-pattern post-transcatheter closure of patent foramen ovale.

BACKGROUND: The patent foramen ovale (PFO) occluder is a bulky metallic device. Its impact on the normal blood flow at the superior vena cava-right atrial (SVC-RA) junction is not clear. METHODS: We examined SVC-RA junction flow-pattern using pulsed-wave (PW) ultrasound Doppler in 21 patients (4 male, aged 52.7 ± 9 years) who underwent PFO device closure 4-120 months previously, in comparison with 21 age- and sex-matched controls (4 male, aged 51 ± 8.5 years) with structurally normal hearts. RESULTS: Mean systolic flow velocity at the SVC-RA junction was 60 ± 11 cm/s in the PFO closure group and 64 ± 17 cm/s in the control group (P = 0.27). Mean diastolic blood flow velocity at the SVC-RA junction in those groups was 30 ± 8 and 35 ± 9 cm/s, respectively (P = 0.1).The mean systolic wave duration was 439 ± 52 ms in the PFO closure group and 422 ± 67 ms in the control group (P = 0.4). The mean diastolic wave duration was 320 ± 75 and 277 ± 88 ms, respectively (P = 0.12). CONCLUSION: The study results show that transcatheter PFO closure does not affect the normal blood flow at the SVC-RA junction.

Specific Therapy Based on the Genotype in a Malignant Form of Long QT3, Carrying the V411M Mutation.

Congenital long QT syndrome (LQTS) is a cardiac channelopathy that leads to the prolongation of the QT interval. This prolongation can lead to ventricular tachyarrhythmia, syncope, and sudden cardiac death. There are various types of LQTS. Treatment of LQT1 and LQT2 is mainly based on antiadrenergic therapy. LQT3, on the other hand, is a result of a mutation of the SCN5A gene, which encodes the sodium channels. In this type, patients are sensitive to vagal stimuli and episodes tend to occur at rest. Sodium channel blocking compounds, such as ranolazine, mexiletine, and flecainide, have been found to be effective in selective mutations.In this case report, we report the case of a child with congenital LQT3 (V411M) who presented first with sudden cardiac death and three weeks later with an implantable cardioverter defibrillator storm. Knowing the specific mutation and understanding the mechanism at the molecular level through an in vitro study yielded a clinically meaningful result. The patient's arrhythmia burden was totally eliminated following successful treatment with flecainide.

Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.

Mutations in SCO2 are among the most common causes of COX deficiency, resulting in reduced mitochondrial oxidative ATP production capacity, often leading to hypertrophic cardiomyopathy (HCM). To date, none of the recent pertaining reports provide deep understanding of the SCO2 disease pathophysiology. To investigate the cardiac pathology of the disease, we were the first to generate induced pluripotent stem cell (iPSC)-derived cardiomyocytes (iPSC-CMs) from SCO2-mutated patients. For iPSC generation, we reprogrammed skin fibroblasts from two SCO2 patients and healthy controls. The first patient was a compound heterozygote to the common E140K mutation, and the second was homozygote for the less common G193S mutation. iPSC were differentiated into cardiomyocytes through embryoid body (EB) formation. To test the hypothesis that the SCO2 mutation is associated with mitochondrial abnormalities, and intracellular Ca2+ -overload resulting in functional derangements and arrhythmias, we investigated in SCO2-mutated iPSC-CMs (compared to control cardiomyocytes): (i) the ultrastructural changes; (ii) the inotropic responsiveness to ß-adrenergic stimulation, increased [Ca2+ ]o and angiotensin-II (AT-II); and (iii) the Beat Rate Variability (BRV) characteristics. In support of the hypothesis, we found in the mutated iPSC-CMs major ultrastructural abnormalities and markedly attenuated response to the inotropic interventions and caffeine, as well as delayed afterdepolarizations (DADs) and increased BRV, suggesting impaired SR Ca2+ handling due to attenuated SERCA activity caused by ATP shortage. Our novel results show that iPSC-CMs are useful for investigating the pathophysiological mechanisms underlying the SCO2 mutation syndrome.

Comparing the Performance of Amplatzer® and Occlutech® Figulla® Septal Occluders: The Pediatric Point of View. A Retrospective Study.

BACKGROUND: The closure of an atrial septal defect is procedure that is frequently performed in both adults and children. Currently, the most commonly used devices are the Amplatzer® and Occlutech® Figulla® atrial septal occluders. Studies conducted in adults have shown that these devices all have similar performance efficiency for the closure of secundum atrial septal defects. No study to date has examined their performance in the pediatric population. OBJECTIVES: To evaluate and compare the performance of Amplatzer® and Occlutech® Figulla® atrial septal occluders in the pediatric population. METHODS: A consecutive retrospective study of exclusively pediatric patients who underwent percutaneous closure of atrial septal defect with these devices was conducted at our institute. RESULTS: The study comprised 110 children, 50 in the Amplatzer® device group and 60 in the Occlutech® Figulla® device group. The groups had similar demographic and defect characteristics, except for defect size per transesophageal echocardiography (TEE), which was 2.1 mm larger in the Amplatzer® device group (P = 0.02). No adverse events were recorded in either of the study groups. Complete defect closure at 12 months follow-up (procedural success) was achieved in all but one of the patients in the Amplatzer® group and all but two in the Figulla® group (P = 1). The residual shunt rates of fenestrated defects were similar in the two groups. CONCLUSIONS: For children with an isolated secundum atrial septal defect, percutaneous closure is equally safe and effective with either Amplatzer® or Occlutech® Figulla® devices.

Closure of Secundum Atrial Septal Defects by Using the Occlutech Occluder Devices in More Than 1300 Patients: The IRFACODE Project: A Retrospective Case Series.

BACKGROUND: The Occlutech Figulla ASD device series (OFSO) shows an improved device design for interventional ASD closure, larger follow-up series are missing. METHODS: We retrospectively reviewed the feasibility, safety, implantation properties, results, and follow-up of ASD closure using Occlutech devices over a 5 year period by establishing a multi-institutional collaborative result registry with 16 contributing centers from 11 countries (IRFACODE). RESULTS: In 1315 patients of all age groups (female 66.9%), successful (98%) ASD closure was performed (mean age 28.9 years, weight 52 kg, height 148.6 cm). Of the defects, 47.9% showed no or only a deficient aortic rim; in 11.9%, there was more than one defect; a septum aneurysm was present in 21.5%; and the mean implanted device size was 20.5 mm. Immediate closure was achieved in 78.6%, at discharge in 83.1%, and 96.4% and 97.3% at 6 and 12 months follow-up, respectively. During a mean follow-up of 2.7 years (in total 3597 patient years), significant complications were minimal (total = 8, <1%) with secondary device embolizations in five and AV-blocks in three patients. No erosion or death was reported. CONCLUSION: ASD closure using OFSO is feasible in a large variety of patients, safe with only a minimal risk of severe side effects and especially without any aortic erosions despite a large percentage of large and complicated defects. © 2016 Wiley Periodicals, Inc.

Approach to haemangiomatosis causing congestive heart failure.

UNLABELLED: Haemangiomas represent the most common tumour of infancy. Although most cases are cutaneous benign lesions, multiple skin haemangiomas are associated with visceral involvement, especially of the liver. Hepatic haemangiomatosis may be complicated by high-output cardiac failure due to high-flow arteriovenous connections within the lesions. Different therapeutic strategies for treating haemangiomatosis causing heart failure include medical, surgical and interventional modalities. This study aimed to review the treatment options, discuss their benefits and flaws and propose a practical therapeutic approach for this medical situation. CONCLUSION: Our approach incorporates heart failure medications, dietary support and propranolol as first-line treatment, while corticosteroids, vincristine, percutaneous intervention and surgery are reserved for refractory cases.

Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia characterized by syncope and sudden death occurring during exercise or acute emotion. CPVT is caused by abnormal intracellular Ca(2+) handling resulting from mutations in the RyR2 or CASQ2 genes. Because CASQ2 and RyR2 are involved in different aspects of the excitation-contraction coupling process, we hypothesized that these mutations are associated with different functional and intracellular Ca(²+) abnormalities. To test the hypothesis we generated induced Pluripotent Stem Cell-derived cardiomyocytes (iPSC-CM) from CPVT1 and CPVT2 patients carrying the RyR2(R420Q) and CASQ2(D307H) mutations, respectively, and investigated in CPVT1 and CPVT2 iPSC-CM (compared to control): (i) The ultrastructural features; (ii) the effects of isoproterenol, caffeine and ryanodine on the [Ca(2+) ]i transient characteristics. Our major findings were: (i) Ultrastructurally, CASQ2 and RyR2 mutated cardiomyocytes were less developed than control cardiomyocytes. (ii) While in control iPSC-CM isoproterenol caused positive inotropic and lusitropic effects, in the mutated cardiomyocytes isoproterenol was either ineffective, caused arrhythmias, or markedly increased diastolic [Ca(2+) ]i . Importantly, positive inotropic and lusitropic effects were not induced in mutated cardiomyocytes. (iii) The effects of caffeine and ryanodine in mutated cardiomyocytes differed from control cardiomyocytes. Our results show that iPSC-CM are useful for investigating the similarities/differences in the pathophysiological consequences of RyR2 versus CASQ2 mutations underlying CPVT1 and CPVT2 syndromes.

Electrocardiographic comparison of ventricular premature complexes during exercise test in patients with CPVT and healthy subjects.

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but highly malignant inherited arrhythmic disorder. Although a standardized exercise stress test (ST) is the most reliable way to diagnose CPVT, in 30% only single ventricular premature beats (VPCs) were recorded. OBJECTIVE: To evaluate whether electrocardiographic characteristics of VPCs during ST distinguish patients with CPVT from healthy subjects. METHODS: Electrocardiographic characteristics of VPCs during ST in 16 calsequestrin-2 (CASQ2) mutation carriers CPVT patients were compared with that in 36 healthy subjects. RESULTS: CPVT patients had more VPCs (31 ± 14 vs 3 ± 4, P < 0.0001), longer QRS duration (139 ± 18 ms vs 121 ± 21, P = 0.004), and coupling interval (CI; 476 ± 58 ms vs 355 ± 61 ms, P < 0.0001). The most sensitive characteristics for CPVT were >10 VPCs/test (100% sensitivity, 100% negative predictive value [NPV]), left bundle branch block (LBBB) pattern with inferior axis (88% sensitivity, 94% NPV), and CI longer than 400 ms (88% sensitivity, 94% NPV). Bigeminy or trigeminy or LBBB pattern with inferior axis was most specific for CPVT at 100% (100% positive predictive value PPV, 92% NPV). First VPC during the recovery period and VPC recording more than 1 minute during the recovery period were most specific for healthy subjects (100% specificity, 100% PPV). In multivariate analysis, QRS duration >120 ms (odds ratio 4.2, 95% confidence interval 1-17.6, P = 0.04) and first VPC at ≥10 mets (odds ratio 9.1, 95% confidence interval 2.01-41.1, P = 0.004) each predicted the presence of CPVT. CONCLUSIONS: Several electrocardiographic criteria can help distinguish VPCs originating from CPVT compared with healthy subjects.

Diagnosing heart failure in children with congenital heart disease and respiratory syncytial virus bronchiolitis.

OBJECTIVE: The objective of this study is to examine if the B-type natriuretic peptide (BNP) can be used in diagnosing heart failure (HF) in children with congenital heart disease (CHD) who present to the emergency department (ED) with acute bronchiolitis. METHODS: A prospective cohort single-group study of children with CHD and respiratory syncytial virus bronchiolitis was conducted in a pediatric ED. The reference standard for the presence of HF was the clinical and echocardiographic assessment of a pediatric cardiologist blinded to the BNP test results. RESULTS: Eighteen cases were diagnosed, 7 (39%) had acute HF and 11 (61%) did not have acute HF. Patients with HF had a higher level of BNP compared with patients who did not have HF (783 pg/mL [interquartile range, 70-1345] vs 59 pg/mL [interquartile range, 23-90]; P<.013). A BNP level of 95 pg/mL was the optimal cutoff point, having a sensitivity of 0.71 (95% confidence interval, 0.29-0.96) and a specificity of 0.91 (95% confidence interval, 0.58-0.99). CONCLUSION: The results of this small study suggest that the BNP test can be useful to ascertain the presence of HF in children with CHD who present to the ED with respiratory syncytial virus bronchiolitis.

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5-13 years) with a predominant presentation of dilated cardiomyopathy (DCM). Metabolic investigations showed deficient protein N-glycosylation, leading to a diagnosis of Congenital Disorders of Glycosylation (CDG). Homozygosity mapping in the consanguineous families showed a locus with two known genes in the N-glycosylation pathway. In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. In comparison with the generally multisystem presentation in CDG, the nonsyndromic DCM in several individuals was remarkable. Investigation of other dolichol-phosphate dependent glycosylation pathways in biopsied heart tissue indicated reduced O-mannosylation of alpha-dystroglycan with concomitant functional loss of its laminin-binding capacity, which has been linked to DCM. We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations.

Arrhythmia Burden Among Adult Patients With Congenital Heart Disease: A Population-Based Study.

BACKGROUND: A significant percentage of patients with congenital heart disease surviving into adulthood will develop arrhythmias. These arrhythmias are associated with an increased risk of adverse events and death. We aimed to assess arrhythmia prevalence, risk factors, and associated health care usage in a large national cohort of patients with adult congenital heart disease. METHODS AND RESULTS: Adults with a documented diagnosis of congenital heart disease, insured by Clalit and Maccabi health services between January 2007 and December 2011, were included. We assessed the associations between arrhythmia and subsequent hospitalization rates and death with mixed negative binomial and Cox proportional hazard models, respectively. Among 11 653 patients with adult congenital heart disease (median age, 47 years [interquartile range, 31-62]), 8.7% had a tachyarrhythmia at baseline, 1.5% had a conduction disturbance, and 0.5% had both. Among those without a baseline arrhythmia, 9.2% developed tachyarrhythmias, 0.9% developed a conduction disturbance, and 0.3% developed both during the study period. Compared with no arrhythmia (reference group), arrhythmia in the previous 6 months was associated with a higher multivariable adjusted hospitalization rate, 1.33-fold higher than the rate of the reference group (95% CI, 1.00-1.76) for ventricular arrhythmia, 1.27-fold higher (95% CI, 1.17-1.38) for atrial arrhythmias, and 1.33-fold higher (95% CI, 1.04-1.71) for atrioventricular block. Atrial tachyarrhythmias were associated with an adjusted mortality hazard ratio (HR) of 1.65 (95% CI, 1.44-2.94), and ventricular tachyarrhythmias with a >2-fold increase in mortality risk (HR, 2.06 [95% CI, 1.44-2.94]). CONCLUSIONS: Arrhythmias are significant comorbidities in the adult congenital heart disease population and have a significant impact on health care usage and survival.

Human embryonic and induced pluripotent stem cell-derived cardiomyocytes exhibit beat rate variability and power-law behavior.

BACKGROUND: The sinoatrial node is the main impulse-generating tissue in the heart. Atrioventricular conduction block and arrhythmias caused by sinoatrial node dysfunction are clinically important and generally treated with electronic pacemakers. Although an excellent solution, electronic pacemakers incorporate limitations that have stimulated research on biological pacing. To assess the suitability of potential biological pacemakers, we tested the hypothesis that the spontaneous electric activity of human embryonic stem cell-derived cardiomyocytes (hESC-CMs) and induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) exhibit beat rate variability and power-law behavior comparable to those of human sinoatrial node. METHODS AND RESULTS: We recorded extracellular electrograms from hESC-CMs and iPSC-CMs under stable conditions for up to 15 days. The beat rate time series of the spontaneous activity were examined in terms of their power spectral density and additional methods derived from nonlinear dynamics. The major findings were that the mean beat rate of hESC-CMs and iPSC-CMs was stable throughout the 15-day follow-up period and was similar in both cell types, that hESC-CMs and iPSC-CMs exhibited intrinsic beat rate variability and fractal behavior, and that isoproterenol increased and carbamylcholine decreased the beating rate in both hESC-CMs and iPSC-CMs. CONCLUSIONS: This is the first study demonstrating that hESC-CMs and iPSC-CMs exhibit beat rate variability and power-law behavior as in humans, thus supporting the potential capability of these cell sources to serve as biological pacemakers. Our ability to generate sinoatrial-compatible spontaneous cardiomyocytes from the patient's own hair (via keratinocyte-derived iPSCs), thus eliminating the critical need for immunosuppression, renders these myocytes an attractive cell source as biological pacemakers.

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Congenital disorders of glycosylation are a growing group of inborn errors of protein glycosylation. Cardiac involvement is frequently observed in the most common form, PMM2-CDG, especially hypertrophic cardiomyopathy. Dilated cardiomyopathy, however, has been only observed in a few CDG subtypes, usually with a lethal outcome. We report on cardiac pathology in nine patients from three unrelated Israeli families, diagnosed with dolichol kinase deficiency, due to novel, homozygous DK1 gene mutations. The cardiac symptoms varied from discrete, mild dilation to overt heart failure with death. Two children died unexpectedly with acute symptoms of heart failure before the diagnosis of DK1-CDG and heart transplantation could take place. Three other affected children with mild dilated cardiomyopathy at the time of the diagnosis deteriorated rapidly, two of them within days after an acute infection. They all went through successful heart transplantation; one died unexpectedly and 2 others are currently (after 1-5 years) clinically stable. The other 4 children diagnosed with mild dilated cardiomyopathy are doing well on supportive heart failure therapy. In most cases, the cardiac findings dominated the clinical picture, without central nervous system or multisystem involvement, which is unique in CDG syndrome. We suggest to test for DK1-CDG in patients with dilated cardiomyopathy. Patients with discrete cardiomyopathy may remain stable on supportive treatment while others deteriorate rapidly. Our paper is the first comprehensive study on the phenotype of DK1-CDG and the first successful organ transplantation in CDG syndrome.

Early-onset plasmapheresis and LDL-apheresis provide better disease control for pediatric homozygous familial hypercholesterolemia than HMG-CoA reductase inhibitors and ameliorate atherosclerosis.

Plasmapheresis (PA) and low-density lipoprotein apheresis (LDL-A) were assessed in five children with homozygous familial hypercholesterolemia (HFH) previously receiving statins. LDL-A required smaller extracorporeal blood volumes. Mean HDL-cholesterol reduction post-procedure was 32% and 60% with LDL-A and PA, respectively. Non-HDL-C reduction was 64% and 69%, respectively. Pre-procedural LDL-C decreased significantly with weekly versus biweekly LDL-A. Carotid intimal media thickness (IMT) studies demonstrated disappearance of atheromatous lesions and normal ITM in 4/5 patients. Echocardiography revealed normal aortic valves, coronary orifices and supra-valvular area in all patients. Apheresis is effective in pediatric HFH. It may be started in patients weighing 14 kg.

Congestive heart failure with diffuse neonatal hemangiomatosis--case report and literature review.

BACKGROUND: Vascular hemangiomas are considered to be a common finding among neonates and infants. The presence of five or more cutaneous hemangiomas may carry a higher incidence of multiple organ involvement MATERIALS & METHODS: An eleven week old female infant with high cardiac output heart failure and multiple cutaneous hemangiomas was referred to our clinic. Soon after birth she failed to gain weight and developed breathlessness. There was partial response to Captopril and Frusemide therapy, with development of a progressive cough. Echocardiogram and liver and brain ultrasound scans revealed heart chamber enlargement, multiple liver hemangiomas and an isolated cerebellar arterio-venous malformation (AVM). Supportive treatment for congestive heart failure combined with propranolol therapy resulted in rapid clinical response and recovery. DISCUSSION: The diagnosis of Diffuse Neonatal Hemangiomatosis in infants with failure to thrive and symptoms of heart failure raises the possibility of internal organ involvement. Augmentation of propranolol in such cases may cause regression of Hemangiomatosis with patient clinical improvement. CONCLUSION: We report our experience with a single patient of Hemangiomatosis induced heart failure which responded to propranolol combined with medication to control heart failure and failure to thrive prevention. This treatment should be further evaluated with special attention to potential adverse effects, tolerance and compliance.

Increased incidence of coronary artery origin anomalies associated with isolated patent ductus arteriosus.

Coronary artery anomalies may increase the risk of sudden death. Despite awareness of this association with certain congenital heart anomalies such as tetralogy of Fallot and transposition of the great arteries, it is thought to be an infrequent finding in cases of isolated patent ductus arteriosus (PDA). The authors report their experience with coronary anomalies in PDA patients. This study aimed to estimate the incidence of coronary artery anomalies in patients with PDA. The study reviewed 206 angiograms of PDA patients obtained between 1999 and 2011 to determine the origin of the coronary arteries. In 102 angiograms (49.5 %), the origin of the coronary arteries could be adequately visualized. An anomalous origin of coronary arteries was detected in 11 of the 102 patients (10.8 %). Seven of these patients had a single common coronary artery origin (6.8 %). One patient had an aberrant origin of the left coronary artery from the noncoronary sinus, and three patients had an aberrant origin of the right coronary artery: two from the left coronary sinus and one from the noncoronary sinus. These findings suggest that the incidence of coronary artery anomalies in association with an isolated PDA may be considerably higher than expected and previously reported. In view of the increased risk for sudden death with coronary anomalies, a reasonable approach is to determine the coronary artery origin and pathway after the diagnosis of an isolated PDA.

Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.

Alström syndrome (ALMS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report two brothers, 3 and 4 years of age and diagnosed with ALMS, who initially presented in infancy with severe dilated cardiomyopathy during febrile respiratory infection. The disease course in the two siblings was marked by significant intrafamilial variability. Although cardiomyopathy in the older sibling has mainly resolved thus allowing for the discontinuation of medical therapy, heart function in the younger sibling continues to deteriorate despite maximal drug support with furosemide, carvedilol, captopril, and aldospirone. Genetic analysis revealed homozygous mutations, c.8008C>T (R2670X), in ALMS1 resulting in premature protein truncation. This report further emphasizes the exceptional intrafamilial variability of ALMS, mainly during the natural course of cardiac disease.

Transcatheter Closure of a Iatrogenic Gerbode Type Ventricular Septal Defect Post Surgical Septal Myectomy With Mitral and Aortic Valve Replacement.

Jatrogenic communication between left ventricle and right atrium, known as Gerbode type ventricular septal defect (GVSD) may be observed after different surgical interventions. We present a case of iatrogenic GVSD following complex cardiac surgery including septal myectomy combined with mitral and aortic valve replacement, which was successfully closed percutanously by Occlutech septal occluder.