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Case Reports
. 2017 Oct 5;130(19):2393-2394.
doi: 10.4103/0366-6999.215340.

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy

Jun-Jun Quan  1 , Ling-Juan Liu  1 , Tie-Wei Lyu  1 , Xu-Pei Huang  2 , Jie Tian  1
Affiliations
Case Reports

Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy

Jun-Jun Quan et al. Chin Med J (Engl). .
No abstract available

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Echocardiogram observation and pedigree analysis of the Pompe disease case. (a) Echocardiogram demonstrated increased thicknesses of the left ventricular posterior wall and interventricular septum (white arrows). (b) Pedigree analysis revealed the patient carrying a homozygous mutation at c.2015G>A (p.R672Q) in GAA gene inherited from her parents. LA: Left atrium; RA: Right atrium; LV: Left ventricle; RV: Right ventricle; GAA: Alpha-1,4-glucosidase.
See this image and copyright information in PMC

References

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