What question did this study set out to answer?

To evaluate the use of an apico-aortic conduit as a safer alternative in patients with Gaucher’s disease and porcelain aorta.

January 10, 2026The Cardiothoracic Surgeon0 citationsOpen Access

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

VSVarun ShettyNarayana Health DSDivyanshi ShuklaNarayana Health MBMeenakshi BhatCentre For Human Genetics

Key Result

An apico-aortic conduit successfully resolved severe cardiovascular issues in a Gaucher’s disease patient, improving her status from NYHA Class III to Class I after 13 months.

Key Points

To evaluate the use of an apico-aortic conduit as a safer alternative in patients with Gaucher’s disease and porcelain aorta.
Presented a case of a 20-year-old woman with Gaucher's disease Type IIIc and a D409H mutation.
Conducted surgery involving an apico-aortic conduit and coronary artery bypass grafting.
Monitored recovery and follow-up for 13 months post-operation.
The patient improved to NYHA Class I at 13 months follow-up.
The conduit and grafts remained patent without complications.
This approach avoids high-risk conventional aortic surgery.

Structured PICO

Population

1 20-year-old woman with Type IIIc Gaucher's disease (homozygous D409H mutation), presenting with NYHA Class III dyspnoea, palpitations, and syncope. She had a porcelain aorta with 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 (LAD) artery stenosis.

Intervention

Left ventricular apex-to-descending thoracic aorta (DTA) valved conduit (17 mm mechanical valve) combined with coronary artery bypass grafting (CABG) to the LAD and an innominate artery bypass.

Outcome

Clinical recovery, symptom improvement (NYHA class), and conduit/graft patency at 13 months follow-up

An apico-aortic valved conduit combined with extra-anatomic bypasses provides a safe, less invasive surgical alternative for patients with Gaucher's disease and porcelain aorta, avoiding high-risk aortic manipulation.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

Abstract 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.

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