View Only-Mile-High Genetics: Adult Medical Genetics Cases-Mile-High Genetics: Adult Medical Genetics Cases

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Video Summary

In this edition of the ACMG Genomics Case Conference for Adult Genetics and Genomics, Dr. Matt Taylor is presenting and discussing a few cases that were seen in the Adult Medical Genetics Clinic at the University of Colorado. The first case discussed is about a teenager who had a family history of hypertrophic cardiomyopathy. Genetic testing confirmed the presence of a pathogenic variant in the TNNI3 gene. The decision was made to implant a defibrillator in the teenager, and it ultimately saved their life. The second case is about a 36-year-old patient who had a history of long QT syndrome. Genetic testing revealed a pathogenic variant in the Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) gene. The patient's diagnosis was changed from long QT syndrome to CPVT. The third case is about a 41-year-old woman with mild intellectual disability and congenital anomalies. Microarray testing revealed a deletion on chromosome 2 and identified several genes within the deleted region. This provided new information about the patient's condition. The final case is about a woman with a history of breast cancer and fibroadenomas. Genetic testing did not identify a hereditary cancer variant but did reveal a variant of uncertain significance in the neurofibromatosis type 1 gene. Further evaluation of the patient's history and family history revealed that the neurofibromatosis variant may not be relevant. The patient's case is now being explored for other potential genetic causes of her condition.

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Hosted by the University of Colorado

Keywords

ACMG Genomics Case Conference

University of Colorado

hypertrophic cardiomyopathy

TNNI3 gene

long QT syndrome

CPVT gene

chromosome 2 deletion

microarray testing

neurofibromatosis type 1 gene