Gaucher′s disease type III C: Unusual cause of intracardiac calcification

Shah, Sejal; Misri, Amit; Bhat, Meenakshi; Maheshwari, Sunita

doi:10.4103/0974-2069.43883

Cited by 9 publications

(2 citation statements)

References 11 publications

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“…Gaucher disease is the most common lysosomal storage disease caused by an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase. Cardiac involvement such as the aorta, mitral valve, or tricuspid valve calcification is seen in a variant of type III calcification (1)(2)(3). This case report presents diffuse and severe cardiac involvement.…”

Section: Introductionmentioning

confidence: 83%

Widespread Valvular and Vascular Calcification in Type III Gaucher Disease

2018

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A 13-year-old girl, as a known case of type III Gaucher disease, was referred to us for a cardiac assessment. Our investigations revealed wall thickening and calcification in the ascending thoracic aorta, transverse arch, and isthmus. Calcification was also present in the proximal portion of the brachiocephalic trunk while the osteal narrowing of right common carotid was also notable. The other finding included isolated thrombocytopenia. We decided to perform surgery after two months of enzyme replacement therapy.

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Section: Introductionmentioning

confidence: 83%

Widespread Valvular and Vascular Calcification in Type III Gaucher Disease

2018

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“…Few other cases of Gaucher 3C with porcelain aorta have been reported, with a median age at diagnosis of 14 years and a 1.5:1 female-to-male ratio ( Table 2 ). 4 , 5 , 6 , 7 , 8 , 9 All cases report cardiovascular symptoms at diagnosis. Premature cardiovascular death occurred in patients who did not undergo surgical correction.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery

et al. 2022

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Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

Wang,

Koch,

Kenney‐Jung

et al. 2024

JIMD Reports

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Gaucher disease (GD) type 3 is an autosomal recessive lysosomal disease caused by deficiency of β‐glucocerebrosidase (GCase) and encompasses a spectrum of cardiac, neurological, and ophthalmological abnormalities. Although the clinical presentations can be diverse, a recognized clinical trajectory points to an early onset, predominantly before 18 years. GD type 3c is primarily caused by homozygosity for GBA pathogenic variant c.1342G>C (p.Asp448His; historically referred to as D409H) and includes visceral, hematological, skeletal, and cardiac abnormalities. Notably, GD type 3c is distinct from other GD types because it is primarily characterized by valvular heart disease. Yet, with less than 50 patients with GD type 3c reported to date, the phenotypic spectrum and extent of cardiac involvement remains ill‐defined. We present a 20‐year‐old female with an atypical presentation of GD type 3c consisting of chronic intermediate uveitis as the presenting feature and the presence of extensive polyneuropathy starting in adolescence which has been previously unreported in GD type 3c. Distinctively, she has maintained normal cardiac function. Moreover, we compare our case with those reported in the literature to broaden awareness of the varied initial presentations of this disease. The diverse presentations seen in GD type 3c, underscored by our case and those previously reported, demonstrate the need for standardized evaluation and management protocols.

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Gaucher′s disease type III C: Unusual cause of intracardiac calcification

Cited by 9 publications

References 11 publications

Widespread Valvular and Vascular Calcification in Type III Gaucher Disease

Widespread Valvular and Vascular Calcification in Type III Gaucher Disease

Pediatric Porcelain Aorta Secondary to Gaucher Disease Type 3C With Successful Aortic Replacement Surgery

Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease

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