Posterior decompression of the spinal canal combined with anterior and posterior arthrodesis performed at one stage through a posterior approach is a safe and effective technique for managing severe spondylolisthesis.

Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants in the sarcomeric gene MYBPC3 inherited with an autosomal dominant pattern, whereas incomplete and age-dependent penetrance are the most common causes of HCM. Methods: We describe the clinical characteristics of a new truncating MYBPC3 variant, p.Val931Glyfs*120, in 75 subjects from 18 different families from northern Spain with the p.Val931Glyfs*120 variant. Results: Our cohort allows us to estimate the penetrance and prognosis of this variant. The penetrance of the disease increases with age, whereas 50% of males in our sample developed HCM by the age of 36 years old, and 50% of women developed the disease by the time they reached 48 years of age (p = 0.104). Men have more documented arrhythmias with potential risk of sudden death (p = 0.018), requiring implantation of cardioverter defibrillators (p = 0.024). Semi-professional/competitive sport among males is related to earlier onset of HCM (p = 0.004). Conclusions: The p.Val931Glyfs*120 truncating variant in MYBPC3 is associated with a moderate phenotype of HCM, with a high penetrance, onset in middle age, and a worse outcome in males due to higher risk of sudden death due to arrhythmias.

Background Pulmonary arterial hypertension (PAH) includes idiopathic PAH and congenital heart disease (CHD) related PAH. A wide variety of CHD can develop PAH, but their clinical characteristics define four large groups: Eisenmenger, PAH associated with non-restrictive shunt, severe PAH associated with restrictive shunt and postoperative PAH. Our aim was to study the clinical and prognostic differences between these groups and idiopathic PAH. Methods The REHIPED registry is a Spanish, multicenter, observational and prospective registry on pulmonary hypertension in the pediatric population (<18 years of age) that began in 2008. 183 patients were analyzed: baseline characteristics, functional class, right catheterization data, treatment and survival were compared Results 183 patients were analyzed, characteristics are detailed in the table. In patients with idiopathic PAH, treatment with prostanoids was more frequently used as first line therapy and during follow up. The average follow-up time was 9 years. There was not a statistically significant difference in survival among the 4 clinical groups of CHD related PAH. There was a borderline significant difference (logrank p 0.05) in survival between the group of CHD related PAH and idiopathic PAH. Conclusion Idiopathic PAH patients have worse outcome than CHD related PAH patients although they have less comorbidities, less severe hemodynamics and are treated more aggressively. Funding Acknowledgement Type of funding source: Private grant(s) and/or Sponsorship. Main funding source(s): Janssen, Ferrer

Background:Kawasaki disease (KD) or “mucocutaneous lymph node syndrome” is a systemic vasculitis in children that involve medium-sized vessels with predilection for coronary arteries. Due to the high probability of cardiovascular complications, an early diagnosis and treatment is required.Objectives:A) To describe demographic, clinical and analytical features in a cohort of patients with KD diagnosis from northern Spain. B) To assess the rate of long-term cardiovascular outcomes.Methods:We set up an observational study of patients with KD in a University Hospital between Jan-94 and Dec-18. Classic classification criteria were used for diagnosis1. Diagnosis of aneurysms was made by serial echocardiography and/or coronary-CT. Results are expressed as mean±SD or as median and interquartile range (IQR) as appropriate.Results:55 patients (28 women/27 men), with a mean age at diagnosis of 3.6±2.8 years. 60% presented a previous infection prior to diagnosis, most of them viral infection (table 1 ). At diagnosis, 43 patients were classified as complete KD (78.2%), presenting fever >5 days (98.2%), maculopapular rash (98.2%), oral mucosal involvement (89.1%), hands and feet edema (74.5%), conjunctival hyperemia (85.5%) and cervical adenopathy (50.9%). Analytically, there was an increase in acute phase reactants, presence of leucocytosis and thrombocytosis. All patients presented a monophasic disease course with a mean duration of symptoms of 12.6±4.9 days (table 2 ). In 8 patients (14.5%) coronary aneurysms were demonstrated and pericarditis/myocarditis was observed in 2. However, after a follow-up of 13.9±7.0 months, only 1 of them maintained coronary involvement. 98.2% received intravenous immunoglobulin (IGIV) according to international recommendations (2 g/kg). All patients received anti-inflammatory doses of acetylsalicylic acid at diagnosis and subsequently antiplatelet doses. 2 required endovenous corticosteroid, and in 1, an anti-TNF drug (infliximab) was needed (table 2 ). The incidence rate of KD in our cohort was 0.37 cases/100,000/year, 8-10 times lower than other national series2. However, mean age at onset, presence of previous viral infections and aneurysms development, were similar to countries with higher prevalence3.Conclusion:Although the incidence of KD in our population is lower than other territories, it is still the most frequent cause of acquired heart disease in childhood. Early recognition and treatment with IVIG improve prognosis leading to a decrease in the rate of long-term cardiovascular outcomes.References[1] Wood LE. Expert Rev Cardiovasc Ther.2007;5:553-61.[2] Sánchez-Manubens J. Clin Exp Rheumatol 2016;34 (Suppl. S139-S144).[3] Rowley AH, et al. Front Pediatr. 2018Dec11;6:374.Disclosure of Interests:José Luis Martín-Varillas: None declared, D. Prieto-Peña: None declared, Lara Sánchez Bilbao: None declared, Eva Peña Sainz-Pardo: None declared, Belén Atienza-Mateo: None declared, Monica Calderón-Goercke: None declared, Iñigo González-Mazón: None declared, Natalia Palmou-Fontana: None declare...