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Whether genetic testing of people with cardiovascular disease yields useful information is unclear. Investigators evaluated the whole-exome sequencing (donated by a pharmaceutical manufacturer) of consecutive patients undergoing cardiac catheterization at a single site to ascertain the prevalence of genetic variants associated with monogenic cardiovascular diseases.
The team examined 8574 exomes and, using clinical genetic testing panels, identified 155 genes that could cause monogenic cardiovascular disease and 159 pathogenic or likely pathogenic variants. A total of 2361 people had at least one variant. After exclusion of people with an inheritance pattern of disease (i.e., heterogeneous for an autosomal recessive trait), 389 individuals (…