U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cardiomyopathy, infantile hypertrophic

MedGen UID:
412660
•Concept ID:
C2748884
•
Disease or Syndrome
Synonym: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
 
Monarch Initiative: MONDO:0010777
OMIM®: 500006

Professional guidelines

PubMed

Phenotypic Screening Using Patient-Derived Induced Pluripotent Stem Cells Identified Pyr3 as a Candidate Compound for the Treatment of Infantile Hypertrophic Cardiomyopathy.
Sakai T, Naito AT, Kuramoto Y, Ito M, Okada K, Higo T, Nakagawa A, Shibamoto M, Yamaguchi T, Sumida T, Nomura S, Umezawa A, Miyagawa S, Sawa Y, Morita H, Lee JK, Shiojima I, Sakata Y, Komuro I
Int Heart J 2018 Sep 26;59(5):1096-1105. Epub 2018 Aug 11 doi: 10.1536/ihj.17-730. PMID: 30101858

Recent clinical studies

Etiology

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
Gragnaniello V, Deodato F, Gasperini S, Donati MA, Canessa C, Fecarotta S, Pascarella A, Spadaro G, Concolino D, Burlina A, Parenti G, Strisciuglio P, Fiumara A, Casa RD
Ital J Pediatr 2022 Mar 5;48(1):41. doi: 10.1186/s13052-022-01219-4. PMID: 35248118Free PMC Article
Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziółkowska L, Olivotto I, Favilli S, Passantino S, Limongelli G, Caiazza M, Rubino M, Baban A, Drago F, Mcleod K, Ilina M, McGowan R, Stuart G, Bhole V, Uzun O, Wong A, Lazarou L, Brown E, Daubeney PEF, Lota A, Delle Donne G, Linter K, Mathur S, Bharucha T, Adwani S, Searle J, Popoiu A, Jones CB, Reinhardt Z, Kaski JP
ESC Heart Fail 2021 Dec;8(6):5057-5067. Epub 2021 Sep 6 doi: 10.1002/ehf2.13573. PMID: 34486247Free PMC Article
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.
Finsterer J, Stöllberger C, Blazek G
Int J Cardiol 2006 Jun 28;110(3):288-300. Epub 2005 Dec 20 doi: 10.1016/j.ijcard.2005.10.028. PMID: 16364474

Diagnosis

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.
Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziółkowska L, Olivotto I, Favilli S, Passantino S, Limongelli G, Caiazza M, Rubino M, Baban A, Drago F, Mcleod K, Ilina M, McGowan R, Stuart G, Bhole V, Uzun O, Wong A, Lazarou L, Brown E, Daubeney PEF, Lota A, Delle Donne G, Linter K, Mathur S, Bharucha T, Adwani S, Searle J, Popoiu A, Jones CB, Reinhardt Z, Kaski JP
ESC Heart Fail 2021 Dec;8(6):5057-5067. Epub 2021 Sep 6 doi: 10.1002/ehf2.13573. PMID: 34486247Free PMC Article
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Arbustini E, Favalli V, Narula N, Serio A, Grasso M
J Am Coll Cardiol 2016 Aug 30;68(9):949-66. doi: 10.1016/j.jacc.2016.05.096. PMID: 27561770
Review of Cardiac Disease in Nemaline Myopathy.
Finsterer J, Stöllberger C
Pediatr Neurol 2015 Dec;53(6):473-7. Epub 2015 Aug 28 doi: 10.1016/j.pediatrneurol.2015.08.014. PMID: 26507755

Therapy

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
Gragnaniello V, Deodato F, Gasperini S, Donati MA, Canessa C, Fecarotta S, Pascarella A, Spadaro G, Concolino D, Burlina A, Parenti G, Strisciuglio P, Fiumara A, Casa RD
Ital J Pediatr 2022 Mar 5;48(1):41. doi: 10.1186/s13052-022-01219-4. PMID: 35248118Free PMC Article
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease
Lancet Child Adolesc Health 2022 Jan;6(1):28-37. Epub 2021 Nov 22 doi: 10.1016/S2352-4642(21)00308-4. PMID: 34822769
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY; Pompe ADVANCE Study Consortium
Cardiol Young 2022 Mar;32(3):364-373. Epub 2021 Aug 23 doi: 10.1017/S1047951121002079. PMID: 34420548
Advances in diagnosis and management of Pompe disease.
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
New insights into therapeutic options for Pompe disease.
Richard E, Douillard-Guilloux G, Caillaud C
IUBMB Life 2011 Nov;63(11):979-86. Epub 2011 Oct 14 doi: 10.1002/iub.529. PMID: 22002928

Prognosis

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.
Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziółkowska L, Olivotto I, Favilli S, Passantino S, Limongelli G, Caiazza M, Rubino M, Baban A, Drago F, Mcleod K, Ilina M, McGowan R, Stuart G, Bhole V, Uzun O, Wong A, Lazarou L, Brown E, Daubeney PEF, Lota A, Delle Donne G, Linter K, Mathur S, Bharucha T, Adwani S, Searle J, Popoiu A, Jones CB, Reinhardt Z, Kaski JP
ESC Heart Fail 2021 Dec;8(6):5057-5067. Epub 2021 Sep 6 doi: 10.1002/ehf2.13573. PMID: 34486247Free PMC Article
Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Bang ML
J Cell Physiol 2017 Jan;232(1):38-52. Epub 2016 Jun 2 doi: 10.1002/jcp.25424. PMID: 27171814
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.
Finsterer J, Stöllberger C, Blazek G
Int J Cardiol 2006 Jun 28;110(3):288-300. Epub 2005 Dec 20 doi: 10.1016/j.ijcard.2005.10.028. PMID: 16364474

Clinical prediction guides

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy.
Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziółkowska L, Olivotto I, Favilli S, Passantino S, Limongelli G, Caiazza M, Rubino M, Baban A, Drago F, Mcleod K, Ilina M, McGowan R, Stuart G, Bhole V, Uzun O, Wong A, Lazarou L, Brown E, Daubeney PEF, Lota A, Delle Donne G, Linter K, Mathur S, Bharucha T, Adwani S, Searle J, Popoiu A, Jones CB, Reinhardt Z, Kaski JP
ESC Heart Fail 2021 Dec;8(6):5057-5067. Epub 2021 Sep 6 doi: 10.1002/ehf2.13573. PMID: 34486247Free PMC Article
Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Bang ML
J Cell Physiol 2017 Jan;232(1):38-52. Epub 2016 Jun 2 doi: 10.1002/jcp.25424. PMID: 27171814
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Arbustini E, Favalli V, Narula N, Serio A, Grasso M
J Am Coll Cardiol 2016 Aug 30;68(9):949-66. doi: 10.1016/j.jacc.2016.05.096. PMID: 27561770

Recent systematic reviews

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases.
Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S
J Med Genet 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. PMID: 22972949

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...