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Background <p>Loeys Dietz Syndrome (LDS) is a rare autosomal dominant genetic disease that was identified in 2005. The disease occurs with the mutation of the genes encoding the receptors and ligands of Transforming Growth Factor Beta. It progresses with skeletal system, cardiovascular, craniofacial and skin involvement. The most common findings in LDS are vascular aneurysm-dissection, arterial tortuosity, bifid uvula and hypertelorism.</p> Case presentation <p>It was reported that a 13-year-old girl diagnosed with LDS type 5 fell into the pool after falling ill during a swimming course she attended, was taken to the emergency room with respiratory arrest, and cardiopulmonary resuscitation was performed, but no response was received and she died. During the examination and autopsy of the deceased, specific examination findings related to LDS were detected and the cause of death was determined to be her existing LDS and its medical complications.</p> Conclusions <p>LDS is a rare autosomal dominant connective tissue disease, it is defined as a separate syndrome from Marfan Syndrome, Vascular Ehlers-Danlos Syndrome and Familial Aortic Aneurysm Syndrome, which have similar clinical features, and is classified under Marfan-like disorders. Although the average age of death in patients with LDS is stated as 26.1 in the literature, as seen in our case, deaths due to this disease can also occur at younger ages.</p>

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A look at Loeys Dietz syndrome with an autopsy case: a case report and literature review

  • 期刊论文

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  • 发表日期：

    2025年12月23日

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  • Sertac Dalgic,
  • Abuzer Gulderen,
  • Tuba Sahinoglu Gunes,
  • Selcuk Cetin,
  • Hasan Din

摘要

Background

Loeys Dietz Syndrome (LDS) is a rare autosomal dominant genetic disease that was identified in 2005. The disease occurs with the mutation of the genes encoding the receptors and ligands of Transforming Growth Factor Beta. It progresses with skeletal system, cardiovascular, craniofacial and skin involvement. The most common findings in LDS are vascular aneurysm-dissection, arterial tortuosity, bifid uvula and hypertelorism.

Case presentation

It was reported that a 13-year-old girl diagnosed with LDS type 5 fell into the pool after falling ill during a swimming course she attended, was taken to the emergency room with respiratory arrest, and cardiopulmonary resuscitation was performed, but no response was received and she died. During the examination and autopsy of the deceased, specific examination findings related to LDS were detected and the cause of death was determined to be her existing LDS and its medical complications.

Conclusions

LDS is a rare autosomal dominant connective tissue disease, it is defined as a separate syndrome from Marfan Syndrome, Vascular Ehlers-Danlos Syndrome and Familial Aortic Aneurysm Syndrome, which have similar clinical features, and is classified under Marfan-like disorders. Although the average age of death in patients with LDS is stated as 26.1 in the literature, as seen in our case, deaths due to this disease can also occur at younger ages.