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Lysosomal disease with hypertrophic cardiomyopathy

MedGen UID:
1709205
Concept ID:
C5397275
Disease or Syndrome
Synonym: Hypertrophic cardiomyopathy due to lysosomal disease
SNOMED CT: Hypertrophic cardiomyopathy due to lysosomal disease (871649000); Lysosomal disease with hypertrophic cardiomyopathy (871649000)
 
Orphanet: ORPHA217581

Professional guidelines

PubMed

Rubino M, Monda E, Lioncino M, Caiazza M, Palmiero G, Dongiglio F, Fusco A, Cirillo A, Cesaro A, Capodicasa L, Mazzella M, Chiosi F, Orabona P, Bossone E, Calabrò P, Pisani A, Germain DP, Biagini E, Pieroni M, Limongelli G
Heart Fail Clin 2022 Jan;18(1):39-49. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.005. PMID: 34776082
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912

Recent clinical studies

Etiology

Tang MY, Hong YH, Zhou LX, Ni J
Curr Med Sci 2022 Apr;42(2):274-279. Epub 2022 Apr 13 doi: 10.1007/s11596-022-2578-4. PMID: 35419675
Vijapurapu R, Bradlow W, Leyva F, Moon JC, Zegard A, Lewis N, Kotecha D, Jovanovic A, Hughes DA, Woolfson P, Steeds RP, Geberhiwot T
Orphanet J Rare Dis 2022 Jan 6;17(1):6. doi: 10.1186/s13023-021-02133-4. PMID: 34991670Free PMC Article
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Sestito S, Parisi F, Tallarico V, Tarsitano F, Roppa K, Pensabene L, Chimenz R, Ceravolo G, Calabrò MP, De Sarro R, Moricca MT, Bonapace G, Concolino D
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 2):107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PMID: 33000609
Nair V, Belanger EC, Veinot JP
Cardiovasc Pathol 2019 Mar-Apr;39:12-24. Epub 2018 Dec 1 doi: 10.1016/j.carpath.2018.11.002. PMID: 30594732

Diagnosis

Rubino M, Monda E, Lioncino M, Caiazza M, Palmiero G, Dongiglio F, Fusco A, Cirillo A, Cesaro A, Capodicasa L, Mazzella M, Chiosi F, Orabona P, Bossone E, Calabrò P, Pisani A, Germain DP, Biagini E, Pieroni M, Limongelli G
Heart Fail Clin 2022 Jan;18(1):39-49. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.005. PMID: 34776082
Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M
J Am Coll Cardiol 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024. PMID: 33602475
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Sestito S, Parisi F, Tallarico V, Tarsitano F, Roppa K, Pensabene L, Chimenz R, Ceravolo G, Calabrò MP, De Sarro R, Moricca MT, Bonapace G, Concolino D
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 2):107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PMID: 33000609
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F
Am J Med Sci 2020 Dec;360(6):641-649. Epub 2020 Jul 10 doi: 10.1016/j.amjms.2020.07.011. PMID: 32723516

Therapy

Tang MY, Hong YH, Zhou LX, Ni J
Curr Med Sci 2022 Apr;42(2):274-279. Epub 2022 Apr 13 doi: 10.1007/s11596-022-2578-4. PMID: 35419675
Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M
J Am Coll Cardiol 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024. PMID: 33602475
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Kant S, Atta MG
Biomed Pharmacother 2020 Nov;131:110779. Epub 2020 Sep 23 doi: 10.1016/j.biopha.2020.110779. PMID: 33152937
Beer G, Reinecke P, Gabbert HE, Hort W, Kuhn H
Z Kardiol 2002 Dec;91(12):992-1002. doi: 10.1007/s00392-002-0870-7. PMID: 12490989

Prognosis

Vijapurapu R, Bradlow W, Leyva F, Moon JC, Zegard A, Lewis N, Kotecha D, Jovanovic A, Hughes DA, Woolfson P, Steeds RP, Geberhiwot T
Orphanet J Rare Dis 2022 Jan 6;17(1):6. doi: 10.1186/s13023-021-02133-4. PMID: 34991670Free PMC Article
Darden D, Hsu JC, Tzou WS, von Alvensleben JC, Brooks M, Hoffmayer KS, Brambatti M, Sauer WH, Feld GK, Adler E
Heart Rhythm 2021 Jul;18(7):1194-1202. Epub 2021 Mar 16 doi: 10.1016/j.hrthm.2021.03.024. PMID: 33737230
Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C
Neuropathol Appl Neurobiol 2020 Jun;46(4):303-322. Epub 2019 Nov 25 doi: 10.1111/nan.12587. PMID: 31698507
Linhart A, Cecchi F
Int J Cardiol 2018 Apr 15;257:344-350. doi: 10.1016/j.ijcard.2018.01.006. PMID: 29506729
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912

Clinical prediction guides

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
Sestito S, Parisi F, Tallarico V, Tarsitano F, Roppa K, Pensabene L, Chimenz R, Ceravolo G, Calabrò MP, De Sarro R, Moricca MT, Bonapace G, Concolino D
J Biol Regul Homeost Agents 2020 Jul-Aug;34(4 Suppl. 2):107-119. SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY. PMID: 33000609
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269
Nair V, Belanger EC, Veinot JP
Cardiovasc Pathol 2019 Mar-Apr;39:12-24. Epub 2018 Dec 1 doi: 10.1016/j.carpath.2018.11.002. PMID: 30594732
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912

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