A case of Carvajal syndrome presenting with dilated cardiomyopathy.

OBJECTIVES: Carvajal syndrome is a very rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene. It manifests with woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy. We herein present a patient with heart failure and dilated cardiomyopathy who was diagnosed with Carvajal syndrome because of dermatologic manifestations. CASE PRESENTATION: A seven-year-old girl was referred to our clinic due to decompensated heart failure and clinical deterioration. The patient had severe weakness, tachycardia, and tachypnea. She had a complaint of getting tired quickly for three weeks, and she had shortness of breath and abdominal pain for the last two days. She had hepatomegaly and woolly hair. Mild keratoderma was present on the soles of her feet. Echocardiography demonstrated biventricular dilatation, significantly impaired left ventricular systolic function (ejection fraction 22%), and moderate to severe mitral and tricuspid regurgitation. Molecular genetic evaluation was performed because of cutaneous and cardiac findings, which demonstrated a desmoplakin gene mutation. Homozygous mutation c.4297C > T (p.Gln1433*) was identified in desmoplakin gene, and the diagnosis of Carvajal syndrome was confirmed. CONCLUSIONS: Syndromic types of arrhythmogenic right ventricular cardiomyopathy such as Carvajal syndrome are rare diseases. Awareness about cutaneous manifestations and genetic evaluation would help diagnosis and prevention of sudden death. Genetic counselling is needed in familial cases.

The effect of maternal weight on neonatal cardiac functions following diabetic and non-diabetic pregnancies.

OBJECTIVE: We aimed to study myocardial functions of infants appropriate and large for gestational age (IDM-AGA, IDM-LGA) of diabetic mothers (IDM) and AGA and LGA infants of non-diabetic mothers comparatively. METHODS: Newborns were assessed between 24 and 72 h. M-Mode, pulsed wave, and tissue Doppler echocardiography were performed. RESULTS: A negative correlation was found between shortening fraction and maternal weight at delivery in the LGA group (p=0.009, r=-0.58). E/Early diastolic (E') ratio and deceleration time were increased in IDM-AGA than AGA group (p=0.02, p=0.02). There was a negative correlation between maternal blood glucose and E/A ratio (p=0.015 r=-0.63), a positive correlation between maternal blood glucose and mitral A, late diastolic (A') wave in IDM-AGA (p=0.014 r=0.63, p=0.016 r=0.62). Maternal weight gain during pregnancy was in correlation with measured and tei index in IDM-AGA group (p=0.008 r=0.72). Maternal age, pre-pregnancy weight, and weight at delivery and mitral E were higher in IDM-LGA group than IDM-AGA (p=0.03, p=0.01, p=0.003, p=0.012). CONCLUSION: We found that maternal weight has a negative effect on myocardial function in LGA newborns. Diastolic functions were found impaired in IDM-AGA infants and in infants of mothers with high blood glucose. Maternal weight gain during pregnancy has a negative effect on myocardial functions.

Management of acute metabolic crisis in TANGO2 deficiency: a case report.

OBJECTIVES: TANGO2 deficiency is a rare inborn error of metabolism, with distinct clinical features. The clinical presentations of TANGO2 deficiency are developmental delay, speech difficulties, intellectual disability, non-life-threatening paroxysmal neurologic episodes (TANGO2 spells), acute metabolic crises, cardiac crises, seizures and hypothyroidism. Patients may die in acute metabolic crises. Here we report our experience in the management of an acute metabolic crisis in TANGO2 deficiency. CASE PRESENTATION: A 9-year-old patient diagnosed with TANGO2 deficiency was admitted with fever, fatigue, unable to walk. In follow up, encephalopathy, rhabdomyolysis and arrhythmia were detected. Vitamin B-complex was started. Our patient's mental status and rhabdomyolysis improved dramatically, and cardiac crises ended without Torsades de pointes, ventricular tachycardia and/or fibrillation or myocardial dysfunction. CONCLUSIONS: With this report, we aimed to show the effectiveness of vitamin B-complex in the management of acute metabolic crises.

Mitral Regurgitation and Serum N-Terminal Pro-Brain Natriuretic Peptide Levels in Children: A Modification of Adult Criteria.

Mitral regurgitation can result from congenital heart disease, rheumatic valve disease, or other congenital malformations of the mitral valve. Faulty valves require surgical repair or replacement. However, echocardiographic and biochemical parameters that inform surgical decision-making for adults may not be appropriate for children. To investigate whether adult parameters can be used in children, we correlated echocardiographic parameters with serum N-terminal pro-brain natriuretic peptide (NT-proBNP) levels in children with chronic mitral regurgitation. Our sample comprised 45 patients and 38 healthy children. M-mode measurements, left atrial and left ventricular volumes, and Doppler and tissue Doppler echocardiograms were collected. We graded mitral regurgitation according to European Association of Echocardiography recommendations and indexed effective regurgitant area, vena contracta, and regurgitant volume to body surface area. Patients were grouped by regurgitation severity (mild vs moderate or severe) and left ventricular end-systolic dimension (normal vs enlarged). The NT-proBNP level was higher in patients than in controls (P=0.003), higher in patients with moderate or severe regurgitation (P=0.02), and higher in patients with an enlarged left ventricle (P=0.003). Serum NT-proBNP levels correlated with effective regurgitant area (r=0.47; P=0.002), vena contracta width (r=0.46; P=0.003), regurgitant volume (r=0.32; P=0.04), left ventricular end-systolic diameter (r=0.58; P <0.001), and left atrial diameter (r=0.62; P <0.001). An NT-proBNP value of 66 pg/mL differentiated the mild regurgitation group from the moderate or severe regurgitation group. Our results correlating NT-proBNP and echocardiographic parameters indexed to body surface area indicate that these adult criteria can be used in children to grade mitral regurgitation and inform surgical decision-making.

Vascular Wall Changes and Arterial Functions in Children with Surgically Repaired Aortic Coarctation.

OBJECTIVE: We investigated arterial functions by measuring carotid-intima-media thickness, flow-mediated dilatation of the brachial artery, and distensibility and stiffness of the abdominal aorta as early indicators of cardiovascular risk in children followed up after coarctation repair. MATERIALS AND METHODS: Twenty patients with successful repair of coarctation and 27 healthy children were investigated. Two-dimensional echocardiographic images, and carotid and brachial ultrasound studies were performed. RESULTS: The ages of the study group ranged from 5.3 to 22 years, and those of the control group from 7 to 17 years. The age at time of surgery was between 0.23 and 257 months. Average follow-up duration after repair was between 11 and 257 months. The stiffness index of the abdominal aorta was significantly higher in patients with coarctation repair than controls (mean = 0.625 ± 0.41, mean = 0.11 ± 0.73; P = .007). Flow-mediated dilatation of the brachial artery in the first minute decreased significantly among the patients (mean = 4.5 ± 2.7, mean = 6.9 ± 4.5; P = .005). Age of the patients had a negative correlation with distensibility of the abdominal aorta (r = -0.572; P = .008) and a positive correlation with stiffness of abdominal aorta (r = 0.566, P = .009). CONCLUSION: This study suggested that vascular wall changes in children and adolescents can be seen even after successful coarctation repair and may progress toward overt atherosclerosis at older ages.

Myopericarditis in children and adolescent: is the elevated troponin and chest pain as alarming as we thought?

AIM: When encountering adolescents with chest pain and a high troponin level but with no underlying coronary artery illness, it is advisable to consider myopericarditis. Though myopericarditis is a self-limiting, benign condition, it nevertheless causes anxiety in the patient and the family. METHODS: Thirty-nine patients diagnosed with myopericarditis were included. We retrospectively analysed the demographic and clinical features, laboratory tests, echocardiography, electrocardiograms, MRI findings, coronary CT angiography, and conventional angiography findings in these patients. RESULTS: Of the 39 patients (female/male = 4/35) aged 7-17 years, 66.6% had viral infection in the 2 weeks preceding presentation. Eleven patients were tested for high-sensitivity cardiac troponin I, 28 for high-sensitivity cardiac troponin T, and 10 patients were tested for both biomarkers. The median hs-TnI and hs-TnT values were 6.3 (0.05-29.9) ng/mL and 586 (51-9398) ng/L, respectively. Twenty-three patients showed ST changes on electrocardiography, of whom 11 had ST-elevation in the leads supporting left ventricular involvement. Coronary CT angiography and catheter angiography evaluations performed for differential diagnosis of coronary anomaly and acute coronary syndrome were normal. Cardiac MRI was conducted on 28 patients, and the results in 10 (35.7%) were suggestive of myopericarditis. CONCLUSIONS: Myopericarditis is common in the adolescent age group and is generally benign but should be carefully monitored for differential diagnosis and possible complications. Cardiac MRI, which has been used more frequently in recent years, has an important role in differential diagnosis and the follow-up of patients.

Subclavian flap aortoplasty for infant coarctation of the aorta

Aortic resection with an extended end-to-end anastomosis is the surgical gold standard treatment for infant aortic coarctation and has excellent early and long-term outcomes.  Subclavian flap aortoplasty is an alternative surgical technique that offers some advantages because there is no need to do extensive dissection and mobilization of the aortic arch and descending aorta as required in an extended end-to-end anastomosis.  This video tutorial illustrates the technical aspects of subclavian flap aortoplasty in an infant.

Evaluation of Arterial Functions and Carotid Intima Media Thickness in Children During Mid-Term Follow-Up After Kawasaki Disease.

OBJECTIVE: Kawasaki disease (KD) is a multisystemic vasculitis of medium- and small-sized arteries. The involvement of the coronary arteries may lead to long-term cardiovascular sequelae. We studied the elasticity of the aorta and the common carotid artery (CCA), flowmediated dilatation of the brachial artery, and carotid intima media thickness, as well biomarkers such as high-sensitivity C-reactive protein (hs-CRP) and elastin, as useful indicators of cardiovascular risk in patients, following KD. METHODS: The study group consisted of 26 patients with a history of KD, and 26 healthy children. Echocardiography, and carotid and brachial ultrasound studies were performed. Plasma hs- CRP and elastin levels were studied in both groups. RESULTS: The stiffness indices (SI) obtained from the aortic arch, abdominal aorta, and the CCA were increased in the patients, compared to the controls. Distensibility was decreased at the sinus of Valsalva, the sinotubular junction, the aortic arch, and the ascending aorta, compared to the control group. Flow-mediated dilatation (FMD) was lower in the patients than in the controls. The age of the patients had a negative correlation to distensibility of the aortic arch and abdominal aorta, and a positive correlation to the stiffness of the aortic arch. Follow-up duration correlated positively to stiffness of the aortic arch. Carotid intima-media thickness (CIMT), serum hs-CRP, and elastin levels did not differ between the groups. CONCLUSION: Increased aortic and carotid stiffness and decreased aortic distensibility suggest impaired arterial functions following KD. Long-term follow-up and monitorization early in cardiovascular disease is needed.

P wave dispersion in assessment of dysrhythmia risk in patients with secundum type atrial septal defect and the effect of transcatheter or surgical closure.

Atrial dysrhythmia is an important cause of mortality and morbidity in patients with atrial septal defect. Increased P wave duration can predict the risk of atrial dysrhythmia. The aim of this study is to evaluate the risk of atrial dysrhythmia by measuring P wave dispersion, and to observe the effect of surgical and transcatheter closure. Sixty-one patients and 30 controls were investigated. In patient group, before and after closure and in control group at the time of presentation, 12-lead electrocardiography records were evaluated. P wave duration and amplitude, P wave axis, PR interval, P wave dispersion, QRS axis, corrected QT interval, and QT dispersion were calculated. The measurements in patient and control groups, measurements before and after closure, and measurements of surgical and transcatheter group were compared. There were 27 patients in surgical group and 34 patients in transcatheter group. In patient group, signs of right heart volume overload were apparent but there was no significant difference in terms of P wave dispersion between two groups. We compared patient group in itself and found that while the use of medication, cardiothoracic index, ratio of right ventricular dilation, and paradoxical movement in interventricular septum were increased, mean age of closure was younger in surgical group. While P wave dispersion decreased in transcatheter group after closure, it increased in surgical group (p = 0.021). In conclusion, atrial septal defects may cause atrial repolarisation abnormalities and this effect persists even after surgical closure. Transcatheter closure in childhood may decrease dysrhythmia risk in long-term follow-up.

Salvage pulmonary thromboembolectomy for massive pulmonary embolism in a child presented with syncope and subsequent cardiac arrest.

Pulmonary embolism is frequently under-recognised in children and, therefore, a high index of suspicion should be exerted on patients with exertional dyspnoea, presyncope/syncope and unexplained cardiopulmonary arrest. We discuss a 10-year-old previously healthy girl who presented with syncope and subsequent cardiac arrest related to massive pulmonary embolism and was salvaged successfully by emergent pulmonary embolectomy.

Assessment of cardiac and vessel functions in childhood psoriasis

Background/aim: Psoriasis is a chronic inflammatory disease. The effect of psoriasis on the cardiovascular system has not been studied in children before. We studied ventricular strain and vascular functions to assess early cardiovascular effects of psoriasis during childhood. Materials and methods: The study population consisted of 20 psoriatic and 20 age- and sex-matched control subjects. Two-dimensional echocardiography images, longitudinal and global strain, and carotid and brachial ultrasound studies were performed. Results: The mean age of psoriatic children was 14 ± 0.89 years and that of the controls was 14.05 ± 0.88. There were significant increases in terms of interventricular septum diastolic and left ventricular posterior wall diastolic diameter and decreases in mitral E, mitral A, and E/A values between groups. Tissue Doppler imaging revealed significant differences between groups in terms of lateral annulus E', A', E'/A, isovolumetric contraction time, and ejection time. Aortic stiffness was significantly higher and global circumferential strain and longitudinal strain were significantly lower in the psoriasis group. Carotid intima media thickness and flow-mediated dilatation did not differ significantly between the groups. Conclusion: Cardiac left ventricular and arterial functions are affected in psoriatic children and may be an alarming sign of atherosclerotic heart disease in the long term. Early detection of these changes may be helpful for eliminating other risk factors.

Repair of Scimitar syndrome using an extracardiac conduit in pediatric patients: Report of two patients.

Scimitar syndrome (SS) can be repaired by different surgical techniques including direct implantation, intracardiac rerouting, and in situ pericardial channel to direct the Scimitar vein (SV) to the left atrium. The presence of several anatomical variations such as remote infradiaphragmatic drainage of the SV and abnormal situs makes the repair more challenging with conventional repair techniques. In this paper, we present our experience in using an extracardiac-ringed polytetrafluoroethylene conduit in two pediatric patients (14 months and 2 years old) with SS.

Aortic elasticity and the influence of valve morphology in children with bicuspid aortic valve.

AimWe investigated dimensions and elasticity of whole aorta in patients with bicuspid aortic valve and influence of valve phenotype. METHOD: The study group included 44 patients and 42 controls. Patients were divided into groups according to the type of valve opening as horizontal - fusion between right and left coronary cusps - and vertical - fusion between right-non-coronary cusps; according to age they were divided into younger (5-10 years) and older patients (11-16 years). Our study did not include valve phenotype with fusion between left and non-coronary cusps. Systolic-diastolic diameters of aortic annulus, sinus valsalva, sinutubular junction, arcus, and ascending-descending and abdominal aorta were measured and z-scores were obtained. Aortic strain, distensibility, and stiffness index were calculated. Flow-mediated dilatation of brachial artery was studied. RESULTS: z-Scores at annulus, sinus valsalva, sinutubular junction, and ascending aorta were higher in study patients (p=0.001, p=0.0001, p=0.0001, p=0.0001, respectively). z-Scores of sinus valsalva and sinotubular junction were higher in the horizontal group than in the vertical group (p=0.006, p=0.023, respectively). z-Score was over +2 in 51% of patients with horizontal morphology and 33% of patients with vertical morphology (p=0.0001). Ascending aorta was more distensible and less stiff in the study group (11.3±5.63 versus 7.91±4.5, p=0.002; 4.76±3.60 versus 6.19±3.44 cm2.dyn-1.10-6, p=0.033, respectively). Stiffness index of ascending, arcus, and abdominal aorta were higher in the horizontal group (p=0.004, p=0.038, p=0.006, respectively). Ascending aorta was more distensible and less stiff in the younger group (p=0.007, p=0.027, respectively) but did not differ in the older group compared with the control group. CONCLUSION: Aortic dimensions are enlarged in patients with bicuspid aortic valve starting from childhood, suggesting the presence of generalised aortopathy. Aortic elasticity is increased at young age and decreased with age.

Aortic elasticity and carotid intima-media thickness in children with mitral valve prolapse.

Aim We aimed to study the dimensions, systolic and diastolic functions of the left ventricle; dimensions and elasticity of the aorta; and carotid intima-media thickness and flow-mediated dilatation of the brachial artery in mitral valve prolapse. METHODS: The study group consisted of 43 patients (mean age=13.3±3.9) and 42 healthy children (mean age=12.9±3.4). Left ventricular end-diastolic, end-systolic, left atrial diameters, interventricular septum, and left ventricular posterior wall thickness were measured. Ejection and shortening fractions were calculated by M-mode. Measurements were adjusted to the body surface area. Mitral annulus, and systolic and diastolic diameters of the aortic annulus and aorta at each level were obtained; z-scores, aortic strain, distensibility, stiffness index were calculated. Carotid intima-media thickness and flow-mediated dilatation were studied. Patients were classified as classical/non-classical mitral valve prolapse and younger/older patients. RESULTS: Left ventricular end-systolic, end-diastolic, and left atrial diameters (p=0.009, p=0.024, p=0.001) and aortic z-scores at annulus, sinus valsalva, and sinotubuler junction were larger (p=0.008, p=0.003, p=0.002, respectively) in the mitral valve prolapse group. Aortic strain and distensibility increased and stiffness decreased at the ascending aorta in the patient group (p=0.012, 0.020, p=0.019, respectively). Classical mitral valve prolapse had lower strain and distensibility and higher stiffness of the aorta at sinus valsalva level (p=0.010, 0.027, 0.004, respectively). Carotid intima-media thickness was thinner in the patient group, especially in the non-classical mitral valve prolapse group (p=0.037). Flow-mediated dilatation did not differ among the groups. CONCLUSION: Mitral valve prolapse is a systemic disease of the connective tissue causing enlarged cardiac chambers and increased elasticity of the aorta. Decreased carotid intima-media thickness in this group may indicate low atherosclerosis risk.

Ductal closure with intravenous paracetamol: a new approach to patent ductus arteriosus treatment.

OBJECTIVES: Indomethacin and ibuprofen are commonly used in the treatment of hemodynamically significant patent ductus arteriosus (hsPDA). These drugs are associated with serious adverse events, including gastrointestinal perforation, renal failure and bleeding. The role of paracetamol has been proposed for the treatment of PDA. METHODS: We report a series of 11 neonates (birth weight: 415-1580 g; gestational age: 23-30.3 weeks) who were treated with paracetamol for a hsPDA. Neonates with hsPDA were treated with paracetamol in the presence of contraindications to ibuprofen or indomethacin. The condition of significant PDA was defined by the presence of at least one of the following criteria: internal ductal diameter # 1.4 mm/kg body weight, left atrium (LA)-to-aortic (Ao) root ratio > 1.4, unrestrictive pulsatile transductal flow, reverse or absent diastolic flow in the descending aorta along with clinical findings. Intravenous (IV) paracetamol was given at doses 15 mg/kg every 6 h for three days. RESULTS: Successful ductal closure was achieved in 10 out of 11 babies (90.9%). No adverse or side effects were observed during the treatment. CONCLUSIONS: On the basis of these results, paracetamol could be considered as a promising and safe therapy for the treatment of PDA in preterm infants.

Disseminated Peripheral Mycotic Aneurysms and Septic Embolizations Related to an Infected Stent Deployed for Restenosis of Surgically Repaired Supravalvular Aortic Stenosis.

Percutaneous treatment of supravalvular aortic stenosis (SVAS) by means of balloon dilation and stent deployment has been rarely reported in the literature. In this report, we present the case of a patient with mycotic aneurysms, disseminated peripheral and cerebral septic embolizations, and infected vegetations associated with a stent that had previously been deployed to treat restenosis of surgically corrected SVAS in the infancy.

Embolization of a complex pulmonary arteriovenous fistula and coarctation treatment with covered stent at the same session.

Pulmonary arteriovenous fistula (PAVF) are rare malformations that may cause serious complications such as paradoxical embolism, stroke, pulmonary hemorrhage and hemoptysis. Accompanying cardiac malformations such as aortic coarctation were not reported previously. Here we present a case of complex PAVF associated with aortic coarctation. The patient was treated successfully by transcatheter embolization of PAVF with amplatzer vascular plug I and II and implantation of a covered CP stent for coarctation at the same session.

Coronary arteriovenous fistula causing hydrops fetalis.

Fetal heart failure and hydrops fetalis may occur due to systemic arteriovenous fistula because of increased cardiac output. Arteriovenous fistula of the central nervous system, liver, bone or vascular tumors such as sacrococcygeal teratoma were previously reported to be causes of intrauterine heart failure. However, coronary arteriovenous fistula was not reported as a cause of fetal heart failure previously. It is a rare pathology comprising 0.2-0.4% of all congenital heart diseases even during postnatal life. Some may remain asymptomatic for many years and diagnosed by auscultation of a continuous murmur during a routine examination, while a larger fistulous coronary artery opening to a low pressure cardiac chamber may cause ischemia of the affected myocardial region due to steal phenomenon and may present with cardiomyopathy or congestive heart failure during childhood. We herein report a neonate with coronary arteriovenous fistula between the left main coronary artery and the right ventricular apex, who presented with hydrops fetalis during the third trimester of pregnancy.