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Background <p>Gaucher’s disease (GD) Type IIIc, linked to the D409H mutation, can cause severe cardiovascular calcification and porcelain aorta, making conventional aortic surgery hazardous. We present a case where an apico-aortic conduit offered a safer alternative.</p> Case presentation <p>A 20-year-old woman with Type IIIc GD (homozygous D409H mutation) presented with New York Heart Association (NYHA) Class III dyspnoea, palpitations, and syncope. She had hypertension, hypothyroidism, and a sibling deceased from the same condition. On enzyme replacement therapy for 6&#xa0;years, she was found to have severe calcification of the aortic valve, root, and ascending aorta, stenosis of arch vessels, grade II aortic regurgitation, mild mitral stenosis, and proximal left anterior descending artery stenosis.</p> <p>Intraoperatively, extensive calcification precluded root and arch reconstruction. A left ventricular apex–descending thoracic aorta conduit with a mechanical valve was constructed, combined with coronary artery bypass grafting (CABG) to the left anterior descending artery and an innominate artery bypass. Recovery was uneventful, and follow-up at 13&#xa0;months showed the patient in NYHA Class I with patent conduit and grafts.</p> Conclusions <p>An apico–aortic conduit can provide a safe and effective solution in GD with porcelain aorta, avoiding high-risk aortic manipulation. To our knowledge, this is the first reported use of a valved conduit in Gaucher-related calcification, broadening surgical options for this complex patient group.</p>

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Apico-aortic conduit in Gaucher’s disease with porcelain aorta case report: a less invasive alternative

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  • 发表日期：

    2026年1月3日

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  • Varun Shetty,
  • Divyanshi Shukla,
  • Meenakshi Bhat,
  • Govind Datta Chamarthi

摘要

Background

Gaucher’s disease (GD) Type IIIc, linked to the D409H mutation, can cause severe cardiovascular calcification and porcelain aorta, making conventional aortic surgery hazardous. We present a case where an apico-aortic conduit offered a safer alternative.

Case presentation

A 20-year-old woman with Type IIIc GD (homozygous D409H mutation) presented with New York Heart Association (NYHA) Class III dyspnoea, palpitations, and syncope. She had hypertension, hypothyroidism, and a sibling deceased from the same condition. On enzyme replacement therapy for 6 years, she was found to have severe calcification of the aortic valve, root, and ascending aorta, stenosis of arch vessels, grade II aortic regurgitation, mild mitral stenosis, and proximal left anterior descending artery stenosis.

Intraoperatively, extensive calcification precluded root and arch reconstruction. A left ventricular apex–descending thoracic aorta conduit with a mechanical valve was constructed, combined with coronary artery bypass grafting (CABG) to the left anterior descending artery and an innominate artery bypass. Recovery was uneventful, and follow-up at 13 months showed the patient in NYHA Class I with patent conduit and grafts.

Conclusions

An apico–aortic conduit can provide a safe and effective solution in GD with porcelain aorta, avoiding high-risk aortic manipulation. To our knowledge, this is the first reported use of a valved conduit in Gaucher-related calcification, broadening surgical options for this complex patient group.