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Background <p>Opitz G/BBB syndrome (OS) is a disorder characterized by hypertelorism, hypospadias, and other midline anomalies, first described in 1969 by Opitz et al. The most common heart anomalies include ventricular septal defect, atrial septal defect, coarctation of the aorta, persistent left superior vena cava, patent ductus arteriosus, and patent foramen ovale.</p> Case presentation <p>A 33-year-old man presented with a history of activity-related shortness of breath, thoracic discomfort, and palpitations after mild activity over the past 20 years. The patient had a distinctive facial appearance, including telecanthus and cranial deformity. This patient with OS presented with typical congenital heart disease and severe heart failure that cannot be explained solely by congenital heart disease or other heart diseases not previously reported in this disorder. This case highlights that OS can directly lead to decreased cardiac function.</p> Conclusions <p>OS is a raredisorder characterized by midline congenital malformation. Patients with OS should be followed up for longer periods to better characterize long-term outcomes.</p>

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Heart failure caused by Opitz syndrome: a case report and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月2日

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  • Yu Wang,
  • Xiang Wu,
  • Kun Wang

摘要

Background

Opitz G/BBB syndrome (OS) is a disorder characterized by hypertelorism, hypospadias, and other midline anomalies, first described in 1969 by Opitz et al. The most common heart anomalies include ventricular septal defect, atrial septal defect, coarctation of the aorta, persistent left superior vena cava, patent ductus arteriosus, and patent foramen ovale.

Case presentation

A 33-year-old man presented with a history of activity-related shortness of breath, thoracic discomfort, and palpitations after mild activity over the past 20 years. The patient had a distinctive facial appearance, including telecanthus and cranial deformity. This patient with OS presented with typical congenital heart disease and severe heart failure that cannot be explained solely by congenital heart disease or other heart diseases not previously reported in this disorder. This case highlights that OS can directly lead to decreased cardiac function.

Conclusions

OS is a raredisorder characterized by midline congenital malformation. Patients with OS should be followed up for longer periods to better characterize long-term outcomes.