Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

Pathogenic variants in LMNA have been associated with a wide spectrum of muscular conditions: the laminopathies. LMNA-related congenital muscular dystrophy is a laminopathy characterised by the early onset of symptoms and often leads to a fatal outcome at young ages. Children face a heightened risk of malignant arrhythmias. No established paediatric protocols for managing this condition are available. We review published cases and provide insights into disease progression in two twin sisters with LMNA-related muscular dystrophy. Our objective is to propose a cardiac surveillance and management plan tailored specifically for paediatric patients. We present a family of five members, including two twin sisters with LMNA-related muscular dystrophy. A comprehensive neuromuscular and cardiac work-up was performed in all family members. Genetic analysis using massive sequencing technology was performed in both twins. Clinical assessment showed that only the twins showed diagnoses of LMNA-related muscular dystrophy. Follow-up showed an early onset of symptoms and life-threatening arrhythmias, with differing disease progressions despite both twins passing away. Genetic analysis identified a de novo rare missense deleterious variant in the LMNA gene. Other additional rare variants were identified in genes associated with myasthenic syndrome. Early-onset neuromuscular symptoms could be related to a prognosis of worse life-threatening arrhythmias in LMNA related muscular dystrophy. Being a carrier of other rare variants may be a modifying factor in the progression of the phenotype, although further studies are needed. There is a pressing need for specific cardiac recommendations tailored to the paediatric population to mitigate the risk of malignant arrhythmias.

Case report: Removal of a subcutaneous implantable cardiac defibrillator in a pediatric patient with hypertrophic cardiomyopathy after a septal myectomy. Insights on current indications of type of ICD in children with hypertrophic cardiomyopathy and left ventricular tract obstruction.

Hypertrophic cardiomyopathy is a heart muscle disease with an annual incidence between 0.24 and 0.47/100000 in childhood. Sudden cardiac death is the most common cause of death in this population. Although some medical treatment can decrease the risk of sudden cardiac death, implantable cardioverter defibrillator continues to be the most reliable treatment. Different types of devices and programming strategies can be used in patients with hypertrophic cardiomyopathy depending on each center and specific patient condition. We report a pediatric patient affected with hypertrophic cardiomyopathy who had and ICD implantation in primary prevention. Four years later he developed symptomatic left ventricular outflow tract obstruction and a surgical septal myectomy was performed. After the myectomy the patient developed complete left bundle branch block on his 12 lead ECG, and unfortunately none of the S-ICD vectors were suitable after the myectomy and it had to be explanted and replaced for a new transvenous ICD.

[Incidence of congenital heart disease in navarra (1989-1998)]. / Incidencia de las cardiopatías congénitas en Navarra (1989-1998).

INTRODUCTION AND OBJECTIVES: Congenital cardiopathies are the most common forms of congenital malformation. They occur in between 5.2 and 12.5 in every thousand live births. The aim of this study was to describe the incidence and nature of congenital heart disease in the Spanish region of Navarra during a specified time period (1989-1998). PATIENTS AND METHOD: The study involved all children with congenital heart disease among the 47 783 born in the region in the specified time period. RESULTS: The incidence was 8.96 per thousand live births, with 90% having one of the 10 most common types of cardiac malformation. The accumulative percentage diagnosed was 25.3% in the first 24 hours of life, 45% in the first week, 65% in the first month, and 83.1% during the first year. Some 30.8% of cases of congenital heart disease required invasive treatment: 25.4% underwent surgery and 6.4%, cardiac catheterization. CONCLUSIONS: The incidence of congenital heart disease in Navarra falls within the range reported for developed countries. The level of care provided in this region is good, as demonstrated by existing diagnostic capabilities and treatment provision.