Case Reports
doi: 10.4103/0366-6999.215340.
Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy
Affiliations
- PMID: 28937052
- PMCID: PMC5634097
- DOI: 10.4103/0366-6999.215340
Item in Clipboard
Case Reports
Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy
Chin Med J (Engl).
.
No abstract available
Conflict of interest statement
There are no conflicts of interest.
Figures
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.
Similar articles
-
A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth.J Perinat Med. 2002;30(6):517-21. doi: 10.1515/JPM.2002.081. J Perinat Med. 2002. PMID: 12530110
-
Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.Echocardiography. 2017 Apr;34(4):621-624. doi: 10.1111/echo.13490. Epub 2017 Mar 7. Echocardiography. 2017. PMID: 28266734
-
Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months.Am Heart J. 1992 Jan;123(1):239-42. doi: 10.1016/0002-8703(92)90779-u. Am Heart J. 1992. PMID: 1729839 No abstract available.
-
Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.Adv Exp Med Biol. 2009;652:39-46. doi: 10.1007/978-90-481-2813-6_4. Adv Exp Med Biol. 2009. PMID: 20225018 Review.
-
Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79. doi: 10.1002/ajmg.c.31321. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22252989 Review.
Cited by
-
[Research advances in the diagnosis and treatment of Pompe disease].Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jul;20(7):588-593. doi: 10.7499/j.issn.1008-8830.2018.07.015. Zhongguo Dang Dai Er Ke Za Zhi. 2018. PMID: 30022764 Free PMC article. Review. Chinese.
References
-
- Bhengu L, Davidson A, du Toit P, Els C, Gerntholtz T, Govendrageloo K, et al. Diagnosis and management of Pompe disease. S Afr Med J. 2014;104:273–4. doi: 10.7196/SAMJ.7386. - PubMed
-
- Tarnopolsky M, Katzberg H, Petrof BJ, Sirrs S, Sarnat HB, Myers K, et al. Pompe disease: Diagnosis and management. Evidence-Based Guidelines from a Canadian Expert Panel. Can J Neurol Sci. 2016;43:472–85. doi: 10.1017/cjn.2016.37. - PubMed
-
- Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: Findings from the pediatric cardiomyopathy registry. Circulation. 2007;115:773–81. doi: 10.1161/CIRCULATIONAHA.106.621185. - PubMed
-
- Huie ML, Tsujino S, Sklower Brooks S, Engel A, Elias E, Bonthron DT, et al. Glycogen storage disease type II: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Biochem Biophys Res Commun. 1998;244:921–7. doi: 10.1006/bbrc.1998.8255. - PubMed
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
