Simultaneous presence of Brugada and overgrowth syndromes

Submitted: January 23, 2023
Accepted: April 12, 2023
Published: April 27, 2023
Abstract Views: 537
PDF: 227
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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.



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How to Cite

Segreti, Andrea, Francesco Piccirillo, Simone Pasquale Crispino, Francesca Cocchia, Arianna Martucciello, Vito Calabrese, Fiorella Gurrieri, and Francesco Grigioni. 2023. “Simultaneous Presence of Brugada and Overgrowth Syndromes”. Monaldi Archives for Chest Disease 94 (1).