Simultaneous presence of Brugada and overgrowth syndromes.

In the present article, we describe the case of a 21-year-old male presenting to the emergency department following a syncopal episode. Physical examination revealed a distinctive facial appearance in the context of an overgrowth syndrome. Also, an ajmaline test was performed because of the evidence of an incomplete right bundle branch block with ST-T segment elevation in the right precordial derivations, revealing a type-1 Brugada electrocardiographic pattern. Considering the high cardiovascular risk phenotype, the patient underwent subcutaneous cardiac defibrillator implantation. The subsequent comprehensive genomic testing analysis led to the diagnosis of a variant of uncertain significance of the nuclear receptor binding SET domain protein 1 (NSD1) gene and a heterozygous mutation of the calsequestrin 2 (CASQ2) gene. NSD1 gene alterations are usually responsible for the Sotos syndrome, characterized by distinctive facial appearance, learning disability, and overgrowth, in addition to cardiac anomalies ranging from single self-limiting alterations to more severe, complex cardiac abnormalities. On the contrary, a compound heterozygous or homozygous alteration of the CASQ2 gene is usually associated with catecholaminergic polymorphic ventricular tachycardia; however, the significance of a merely heterozygous alteration in the CASQ2 gene, as in the present case report, is not yet clear. In conclusion, to the best of our knowledge, this is the first description of the coexisting presence of Brugada and overgrowth syndromes in a single patient.

Relationship Between the Completeness of Revascularization and Myocardial Injury in Patients Treated With Percutaneous Coronary Intervention.

BACKGROUND: Clinical outcomes of patients suffering periprocedural myocardial injury and undergoing incomplete revascularization (IR) following percutaneous coronary intervention (PCI) has never been investigated. OBJECTIVE: To investigate the relationship between different thresholds of post-PCI cardiac troponin (cTn) elevation and revascularization completeness in determining long-term clinical outcomes. METHODS: Patients were stratified in tertiles according to preprocedural SYNTAX score (SS) (low: 0-6; medium: >6-11; high: >11) and residual SS (low: 0-4; medium: >4-8; high: >8). IR was defined by a rSS value >4. Three thresholds of myocardial injury were pre-specified: 5×, 35× and 70× 99th percentile upper reference limit (URL) increase of baseline cTn. Primary outcome was a composite of major adverse cardiac events (MACE) at two years of follow-up. RESULTS: 1061 patients undergoing PCI for stable coronary artery disease were enrolled. IR occurred in 249 (23.4 %) and major myocardial injury in 540 (50.9 %). Patients belonging to the highest tertile of SS showed an increased risk of experiencing IR and periprocedural myocardial injury. Two-year follow-up was available in 869. At multi-variate Cox's regression analysis, patients undergoing IR + cTn > 35 × URL and IR + cTn > 70 × URL showed an increased risk of MACE [HR 2.30 (1.19-4.41) and HR 3.20 (1.38-7.41); respectively]. CONCLUSIONS: Periprocedural myocardial injury is critically associated with MACE at two-year follow-up in patient treated with PCI who achieve IR. Despite conflicting evidence exists regarding the influence of periprocedural myocardial injury on clinical outcomes, patients undergoing IR seem to represent a high-risk subgroup.