Aortic calcification in Gaucher disease: a case report.
PMID 30410382 | PMCID PMC6199969 | DOI 10.2147/TACG.S180995 · The application of clinical genetics · 2018 · View on PubMed ↗
Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular system. The health care provider should be vigilant regarding this potentially fatal complication. Gaucher disease type IIIC has been linked to causing oculomotor apraxia and cardiac calcification. We report a Saudi girl who developed valvular and aortic calcification in late childhood and died as a result of her cardiovascular complications. This report further strengthens the association and reminds the clinicians that patients with D409H mutation need echocardiographic evaluation annually.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | Gaucher disease | “Aortic calcification in Gaucher disease: a case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We report a Saudi girl who developed valvular and aortic calcification in late childhood and died as a result of her cardiovascular complications.” | 0.95 | saudi_context_rules_v1 |
| variant | D409H | “This report further strengthens the association and reminds the clinicians that patients with D409H mutation need echocardiographic evaluation annually.” | 0.82 | literature_variant_regex_v2 |