Shone syndrome: a complex and rare congenital heart disease

• DOI: https://doi.org/10.22533/at.ed.1594652404074

• Palavras-chave: Cardiopatía congénita, Síndrome de Shone, LVOT, Cardiocirugía

• Keywords: Congenital heart disease, Shone syndrome, LVOT, Cardiosurgery

• Abstract:

  Shone syndrome is a rare congenital heart disease characterized by a combination of left ventricular outflow tract (LVOT) obstructions. It encompasses a spectrum of obstructive lesions that include supravalvular mitral annulus, mitral valve stenosis, aortic coarctation, and subaortic stenosis. This heart disease is diagnosed during childhood, the symptoms appear early and include dyspnea, fatigue, paleness, feeding problems, etc. Information on its epidemiology is limited due to its rarity and lack of studies; however, it constitutes a relevant disease due to its potentially fatal effects in the pediatric population. In this work, the case of a 2-month-old infant is presented; RNT of a controlled pregnancy and without morphological anomalies described in prenatal ultrasounds. After delivery, the patient progressed favorably and was transferred to the postpartum period, where the physical examination revealed a systolic ejective murmur, with no other alterations. She decided to study with an electrocardiogram, pressure in four extremities and an echocardiogram. The latter showed aortic coarctation, hypoplasia of the aortic arch, aortic valve stenosis, mild mitral valve stenosis and insufficiency, and a wide muscular ventricular septal defect (VSD). Thus configuring the diagnosis of Shone Syndrome and achieving a timely intervention. Initially, cardiosurgery is performed to repair the aortic arch and close the VSD, and then banding is installed on the pulmonary artery. In conclusion, Shone syndrome is a complex disease that primarily presents with LVOT. Early diagnosis and appropriate management strategies are critical to improving patient outcomes. This work serves as a resource for health professionals to consider Shone Syndrome within differential diagnoses and to motivate research and improve knowledge about this rare heart condition.