Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome.

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal disorder, primarily characterised in adults by cutaneous features, pulmonary cysts that predispose to spontaneous pneumothorax and renal tumours. The syndrome is caused by pathogenic variants in the tumour suppressor gene, which plays a role in the mammalian target of rapamycin (mTOR) signalling pathway. We present the case of a newborn infant diagnosed with BHDS, who died of sudden cardiac death due to complications from cardiac rhabdomyoma.

Successful Surgical Management of Severe Left Ventricular Outflow Tract Obstruction Caused by Cardiac Rhabdomyoma in a Neonate.

Cardiac rhabdomyoma is the most common primary cardiac tumor in infants and can be diagnosed by fetal echocardiography. This benign tumor can be found in various locations within the heart, including the left ventricle, right ventricle, or septum, and is typically multiple. While spontaneous regression may occur, hemodynamic disorders, arrhythmias, and sudden death have also been reported.

Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. The aim of this study was to analyze the genotypes and phenotypes of Korean patients diagnosed with TSC and expand our understanding of this disorder. This retrospective observational study included 331 patients clinically diagnosed with TSC between November 1990 and April 2023 at Severance Children's Hospital, Seoul, South Korea.