Abstract:
Cardiac tumours can occur in association with genetic syndromes. Rhabdomyomas have been reported in association with tuberous sclerosis, myxomas with Carney\'s complex, cardiac fibromas with Gorlin syndrome, and paragangliomas with multiple endocrine neoplasm syndrome. The presentation and prognosis of cardiac tumours associated with genetic syndromes differ compared with sporadic cases. Knowledge about the associated syndromes\' genetic features and extracardiac manifestations is essential for the diagnosis, prognosis, and management of cardiac neoplasms. Moreover, identifying genetic mutations in benign and malignant cardiac tumours is needed to personalise management and improve treatment outcomes. Thus, this review discusses the genetic abnormalities associated with cardiac tumours, the current genetic screening recommendations, and the effect of those genetic mutations on the outcomes.
摘要:
心脏肿瘤可与遗传综合征相关。据报道,横纹肌瘤与结节性硬化症有关,带有卡尼复合体的粘液瘤,心脏纤维瘤伴Gorlin综合征,副神经节瘤伴多发性内分泌肿瘤综合征。与散发性病例相比,与遗传综合征相关的心脏肿瘤的表现和预后有所不同。了解相关综合征的遗传特征和心外表现对诊断至关重要,预后,和心脏肿瘤的管理。此外,需要在良性和恶性心脏肿瘤中识别基因突变,以实现个性化管理和改善治疗结果.因此,这篇综述讨论了与心脏肿瘤相关的遗传异常,目前的基因筛查建议,以及这些基因突变对结果的影响。