Pediatric Cardiology.
Pediatric Service Line, Inova L.J. Murphy Children's Hospital, Falls Church, Virginia.
Curr Opin Cardiol. 2024 Jul 1;39(4):364-370. doi: 10.1097/HCO.0000000000001155. Epub 2024 Apr 19.
The incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection.
As many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance. A considerable number of heritability factors remain undefined for these families.
Genetic aortopathy programs require a collaborative approach including cardiovascular specialists and surgeons, medical geneticists, genetic counselors, and allied healthcare professionals. Comprehensive evaluation and management of these patients includes collection of detailed phenotypic data to inform the broader community and identify new associated and causative genes of interest, genetic modifiers, and other risk factors. These programs optimize outcomes and reduce the overall burden in the population of acute aortic dissection and related comorbidities.
对于 60 岁以下的胸主动脉疾病患者，以及有遗传性胸主动脉疾病家族史和与急性 A 型主动脉夹层风险增加相关疾病家族史的患者，遗传咨询和检测的纳入对于评估和管理至关重要。
多达 20%的 60 岁以下胸主动脉疾病患者具有常染色体显性遗传模式。对于这些家族来说，许多遗传性因素仍未被定义。
遗传主动脉病项目需要一种协作方法，包括心血管专家和外科医生、医学遗传学家、遗传咨询师和相关医疗保健专业人员。对这些患者的全面评估和管理包括收集详细的表型数据，以便为更广泛的社区提供信息，并确定新的相关和致病基因、遗传修饰因子和其他危险因素。这些项目优化了结果，并降低了急性主动脉夹层和相关合并症在人群中的整体负担。
