Luca Alina Costina, Miron Ingrith Crenguța, Cojocaru Elena, Țarcă Elena, Curpan Alexandrina-Stefania, Mihăila Doina, Mihaela Trandafir Laura, Iordache Alin-Constantin, Lupu Vasile-Valeriu, Tazelaar Henry D, Pădureț Ioana Alexandra
Department of Pediatrics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iasi, Romania.
Department of Morphofunctional Sciences I-Pathology, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iaşi, Romania.
Children (Basel). 2022 Jun 23;9(7):942. doi: 10.3390/children9070942.
Intracardiac masses are unusual findings in infants, and most of them are benign. Nevertheless, they may be associated with a significant degree of hemodynamic instability and/or arrhythmias. Malignant tumors of the heart rarely occur in children. Rhabdoid tumors are aggressive tumors with a dismal prognosis even when diagnosed early. Although rhabdomyomas are common cardiac tumors in infants, they are mostly benign. The most common sites of involvement are the kidneys and central nervous system, but soft tissues, lungs, and ovaries may also be affected. The diagnosis can be challenging, particularly in sites where they do not usually occur. In the present paper, we report the case of a 2-year-old boy diagnosed with cardiac rhabdoid tumor highlighting the importance of molecular studies and recent genetic discoveries with the purpose of improving the management of such cases. The aim of this educational case report and literature review is to raise awareness of cardiac masses in children and to point out diagnostic hints toward a cardiac tumor on various imaging modalities. Given the rarity of all tumors involving the heart and the lack of symptom specificity, a high degree of suspicion is needed to arrive at the correct diagnosis.
心内肿物在婴儿中是不常见的发现,并且大多数是良性的。然而,它们可能与显著程度的血流动力学不稳定和/或心律失常有关。儿童心脏恶性肿瘤很少见。横纹肌样瘤是侵袭性肿瘤,即使早期诊断预后也很差。虽然横纹肌瘤是婴儿常见的心脏肿瘤,但大多是良性的。最常受累的部位是肾脏和中枢神经系统,但软组织、肺和卵巢也可能受到影响。诊断可能具有挑战性,尤其是在它们通常不发生的部位。在本文中,我们报告了一名2岁男孩被诊断为心脏横纹肌样瘤的病例,强调了分子研究和最近的基因发现对于改善此类病例管理的重要性。本教育性病例报告和文献综述的目的是提高对儿童心脏肿物的认识,并指出各种成像方式下心脏肿瘤的诊断线索。鉴于所有累及心脏的肿瘤都很罕见且缺乏症状特异性,需要高度怀疑才能做出正确诊断。