Myhre syndrome: expanding its paediatric phenotypic spectrum.

Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatric cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome. This confirms and extends the scarce reports describing the association between these two entities.

Mid-aortic Syndrome in a Pediatric Cohort.

Mid-aortic syndrome (MAS) is an uncommon condition characterized by severe narrowing of the abdominal aorta, usually involving visceral and renal arteries. Most patients are asymptomatic and typically present with incidental hypertension which might evolve into end-organ damage if untreated. Our aim was to review 8 new pediatric MAS cases. A retrospective observational study of all pediatric patients with MAS diagnosis (April 1992-November 2021) was conducted. Patients underwent systematic evaluation (medical and family history; 12-lead electrocardiogram; echocardiogram; angiography and/or computed tomography or magnetic resonance angiography). 8 pediatric patients with MAS were included. Median age at diagnosis was 2.6 [0.2-4.7] years; median follow-up time was 8.6 [6.6-10.0] years. 6/8 patients presented with incidental hypertension, 1/8 with heart murmur, and 1/8 with heart failure symptoms. All patients were on antihypertensive treatment. 1/8 patients underwent surgery and 7/8 an endovascular treatment. At the end of the study period, among the 6 patients that underwent a successful endovascular procedure, 2 achieved good blood pressure (BP) control, 2 acceptable BP control, 1 stage 1 hypertension and, another, stage 2 hypertension. There was 1 death during follow-up. BP monitoring in pediatric patients is crucial for early recognition of MAS. Treatment should be based on the individual clinical characteristics of patients with careful planning of surgical revascularisation, if possible, after adult growth is completed. Our study demonstrates that endovascular treatment might be a good alternative to surgery. Nevertheless, further trials with larger sample size and longer-term follow-up are required to determine the best treatment approach.

Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy.

We report a case of massive ascending aortic dilatation in a patient with generalized arterial calcification of infancy (GACI). He was found to carry compound heterozygous mutations in ABCC6 gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both entities.

Ausencia parcial de pericardio: ¿únicamente un hallazgo incidental? / Partial absence of the pericardium: Only an incidental finding?

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Spanish registry of percutaneous VSD closure with NitOcclud Lê VSD Coil device: lessons learned after more than a hundred implants.

INTRODUCTION AND OBJECTIVES: The NitOcclud Lê VSD Coil was specifically designed for transcatheter occlusion of ventricular septal defects (VSD) and became available for this purpose in August 2010. Our objective was to describe the Spanish experience of this technique and analyze its reliability and short- to mid-term efficacy. METHODS: National multicenter observational study, which retrospectively recruited all patients (of any age) with VSD (of any location or type) who underwent percutaneous NitOcclud occlusion, using an intention-to-treat analysis, until January 2019. RESULTS: A total of 117 attempts were made to implant at least 1 NitOcclud in 116 patients in 13 institutions. The median [range] age and weight was 8.6 [0.4-69] years and 27 [5.8-97] kg, respectively. In 99 patients (85%), the VSD was an isolated congenital defect. The location was perimembranous in 95 (81%), and 74 (63%) of them were aneurysmatic. The mean fluoroscopy time was 34 [11.4-124] minutes. Of the 117 attempts, 104 were successful (89%) with a follow-up of 31.4 [0.6-59] months. At the last review, final complete occlusion of the defect without residual shunt or with only a minimal shunt was achieved in 92.3% (no shunt, n=73; trivial shunt, n=23). Four patients required a second procedure for residual shunt occlusion. Two devices had to be surgically explanted due to severe hemolysis. There were no deaths or other major complications. CONCLUSIONS: The NitOcclud device can be used successfully for a wide anatomical spectrum of VSD. The main issue is residual shunt, but its incidence decreases over time. The incidence of hemolysis was very low and no permanent changes were detected in atrioventricular conduction.

Utilización de un marcapasos encocavitario por bloqueo cardíaco completo debido a miocarditis por mycoplasma pneumoniae / Use of an encocavitary pacemaker in a patient with complete atrioventricular block due to myocarditis secondary to mycoplasma pneumoniae

Introducción. El bloqueo cardíaco auriculoventricular (BAV) completo en la infancia es una entidad poco frecuente pero potencialmente grave. La etiología más frecuente es la congénita, aunque también se puede presentar de forma adquirida. Hay pocos casos en la literatura de pacientes en edad pediátrica afectos de BAV como primera manifestación de una miocarditis aguda y en la cual se encuentre Mycoplasma pneumoniae como agente etiológico. También son escasas las publicaciones de pacientes pediátricos con esta patología tratados con marcapasos endocavitario. Caso clínico. Niño de 8 años de edad que presenta un episodio comicial e inestabilidad hemodinámica. El paciente es diagnosticado de BAV completo secundario a miocarditis aguda por Mycoplasma pneumoniae. Recibió tratamiento con corticoides, gammaglobulina intravenosa e infusión continua de isoproterenol endovenoso sin obtener respuesta, requiriendo la colocación de un marcapasos endocavitario temporal hasta la recuperación del ritmo sinusal. Comentarios. Determinados autoanticuerpos parece que tienen un papel fundamental en la fisiopatología de la miocarditis aguda. La infección por distintos gérmenes parece actuar como desencadenante de la respuesta autoinmune. De esta forma, parece coherente utilizar un tratamiento inmunosupresor o con gammaglobulinas, aunque no se puede recomendar su uso de forma rutinaria. En cuanto al BAV, puede ser necesario implantar un marcapasos endocavitario en espera de la restitución del ritmo sinusal(AU)

Introduction. Complete atriventricular block (CAB) is a rare but serious condition in children. It is usually congenital, but an acquired form is also well described. The literature on pediatric patients with CAB secondary to Mycoplasma pneumoniae myocarditis is scarce. Moreover, information on the use of an endocavitary pacemaker for children with CAB is very limited. Case Report. An 8-yo boy presented with a generalized tonic-clonic seizure and hemodynamic instability. He was diagnosed with CAB secondary to myocarditis caused by Mycoplasma pneumoniae. He was initially treated with steroids, intravenous immunoglobulins, and continuous infusion isoproterenol with no response, and required the placement of a temporary endocavitary pacemaker until sinus rhythm was recovered. Comments. Specific antibodies play a major role in the pathophysiology of acute myocarditis; infection by different agents could be the trigger of that immune response. The administration of intravenous immunoglobulin therapy for immunomodulation may have a role, although its routine use cannot be recommended. The use of an endocavitary pacemaker may be required until recovery of sinus rhythm(AU)