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.

CNT incorporation improves the resolution and stability of porous 3D printed PLGA/HA/CNT scaffolds for bone regeneration.

In this study, 3D printed porous poly(lactide-co-glycolide) (PLGA) and its nanocomposites with 5 wt. % hydroxyapatite (HA) and 0.5, 1 and 2 wt. % carboxyl-functionalized multi-walled carbon nanotube (CNT) scaffolds were fabricated by using extrusion-based printing. The printing parameters were optimized by rheological studies. The rheological studies demonstrated shear thinning properties for all compositions and an increase in storage modulus was observed after the addition of CNT. Porous PLGA/HA/CNT scaffolds were printed by applying a pressure of 4.76 bar at 125 °C. The addition of 0.5 wt. % of CNT reduced the strut size and increased the porosity from 42% to 60%. The increase in storage modulus and decrease in strut size were related to hydrogen bonding between CNT, HA and PLGA which ultimately improved shape fidelity. The scaffolds were characterized by analysis of their chemical structure, water contact angle measurement,in vitrobioactivity test, biodegradation test, mechanical analysis, andin vitrocell studies. The scaffolds were found to be more hydrophilic by the incorporation of CNTs. Also, degradation studies showed that the microstructure of the scaffold became more stable with the addition of HA and CNT. The compressive modulus of PLGA/HA/CNT2 scaffold was found to be 548.5 MPa, which is found suitable to replace cancellous bone. The scaffolds were found to be highly biocompatible which is possibly due to alignment of CNT and PLGA during 3D printing process. Alizarin red staining indicated improvement of mineralization of MC3T3-E1 cells on the CNT incorporated porous 3D scaffolds. The results suggest that the produced porous 3D printed PLGA/HA/CNT scaffolds are promising for bone regeneration applications.

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.

How safe are children with COVID-19 from cardiac risks? Pediatric risk assesment; insights from echocardiography and electrocardiography

Background/aim: Approximately 40 million individuals worldwide have been infected with SARS-CoV-2, the virus responsible for the novel coronavirus disease-2019 (COVID-19). Despite the current literature about the cardiac effects of COVID-19 in children, more information is required. We aimed to determine both cardiovascular and arrhythmia assessment via electrocardiographic and echocardiographic parameters. Materials and methods: We evaluated seventy children who were hospitalized with COVID-19 infections and seventy children as normal control group through laboratory findings, electrocardiography (ECG), and transthoracic echocardiography (TTE). Results: We observed significantly increased levels of Tp-Te, Tp-Te/QT, and Tp-Te/QTc compared with the control group. Twenty-five of 70 (35.7%) patients had fragmented QRS (fQRS) without increased troponin levels. On the other hand, none of the patients had pathologic corrected QT(QTc) prolongation during the illness or its treatment. On TTE, 20 patients had mild mitral insufficiency, among whom only five had systolic dysfunction (ejection fraction < 55%). There was no significant difference between the patient and control groups, except for isovolumic relaxation time (IVRT) in terms of mean systolic and diastolic function parameters. IVRT of COVID patients was significantly lower than that of control group. Conclusion: Despite all the adult studies, the effects of COVID­19 on myocardial function are not well established in children. The thought that children are less affected by the illness may be a misconception.

Extralobar pulmonary sequestration as a cause of recurrent pulmonary hemorrhage in a neonate.

Pulmonary sequestration is acystic or solid congenital lung malformation comprised of non functional lung tissue that does not communicate with the normal tracheobronchial tree and has a systemic arterial blood supply. There are two forms of sequestration: intralobar and extralobar. Its treatment is surgical resection. Here we presented a case of premature neonate with extralobar pulmonary sequestration who had respiratory failure and recurrent pulmonary hemorrhage. Following surgery, the patient showed significant clinical improvement.

El secuestro pulmonar es una malformación pulmonar congenita, quística o sólida, compuesta de tejido pulmonar no funcional sin conexión con el árbol traqueobronquial y que recibe sangre arterial de la circulación sistemica. Existen dos formas de secuestro: intralobular y extralobular. El tratamiento se realiza mediante resección quirúrgica. Se describe el caso de un recién nacido prematuro con secuestro pulmonar extralobular que presentó insuficiencia respiratoria y hemorragia pulmonar recurrente. Luego de la cirugía, el paciente mejoró en forma clínicamente significativa.

Secuestro pulmonar extralobular como causa de hemorragia pulmonar recurrente en un recién nacido / Extralobar pulmonary sequestration as a cause of recurrent pulmonary hemorrhage in a neonate

El secuestro pulmonar es una malformación pulmonar congenita, quística o sólida, compuesta de tejido pulmonar no funcional sin conexión con el árbol traqueobronquial y que recibe sangre arterial de la circulación sistemica. Existen dos formas de secuestro: intralobular y extralobular. El tratamiento se realiza mediante resección quirúrgica. Se describe el caso de un recién nacido prematuro con secuestro pulmonar extralobular que presentó insuficiencia respiratoria y hemorragia pulmonar recurrente. Luego de la cirugía, el paciente mejoró en forma clínicamente significativa.

Pulmonary sequestration is acystic or solid congenital lung malformation comprised of non functional lung tissue that does not communicate with the normal tracheobronchial tree and has a systemic arterial blood supply. There aretwo forms of sequestration: intralobar and extralobar. Its treatment is surgical resection. Here we presented a case of premature neonate with extralobar pulmonary sequestration who had respiratory failure and recurrent pulmonary hemorrhage. Following surgery, the patient showed significant clinical improvement.