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Cardiac lipidosis, familial

MedGen UID:
395234
•Concept ID:
C1859332
•
Disease or Syndrome
Synonym: Cardiac Lipidosis, Familial
 
Monarch Initiative: MONDO:0008911
OMIM®: 212080

Clinical features

From HPO
Congestive heart failure
MedGen UID:
9169
•Concept ID:
C0018802
•
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
See: Feature record | Search on this feature
Cardiomyopathy
MedGen UID:
209232
•Concept ID:
C0878544
•
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S
Mol Genet Genomic Med 2021 May;9(5):e1666. Epub 2021 Apr 9 doi: 10.1002/mgg3.1666. PMID: 33835733Free PMC Article
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220

Recent clinical studies

Etiology

Cardiac MRI of Hereditary Cardiomyopathy.
Fadl SA, Revels JW, Rezai Gharai L, Hanneman K, Dana F, Proffitt EK, Grizzard JD
Radiographics 2022 May-Jun;42(3):625-643. Epub 2022 Mar 11 doi: 10.1148/rg.210147. PMID: 35275782
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S
Mol Genet Genomic Med 2021 May;9(5):e1666. Epub 2021 Apr 9 doi: 10.1002/mgg3.1666. PMID: 33835733Free PMC Article
Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease.
El Sayed M, Hirsch A, Boekholdt M, van Dussen L, Datema M, Hollak C, Langeveld M
Heart 2021 Dec;107(23):1889-1897. Epub 2021 Feb 10 doi: 10.1136/heartjnl-2020-317922. PMID: 33568430Free PMC Article
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Cardiac challenges in patients with Fabry disease.
Weidemann F, Linhart A, Monserrat L, Strotmann J
Int J Cardiol 2010 May 14;141(1):3-10. Epub 2009 Aug 31 doi: 10.1016/j.ijcard.2009.08.002. PMID: 19720409

Diagnosis

Cardiac MRI of Hereditary Cardiomyopathy.
Fadl SA, Revels JW, Rezai Gharai L, Hanneman K, Dana F, Proffitt EK, Grizzard JD
Radiographics 2022 May-Jun;42(3):625-643. Epub 2022 Mar 11 doi: 10.1148/rg.210147. PMID: 35275782
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S
Mol Genet Genomic Med 2021 May;9(5):e1666. Epub 2021 Apr 9 doi: 10.1002/mgg3.1666. PMID: 33835733Free PMC Article
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Pulmonary arterial hypertension related to connective tissue disease: a review.
Ahmed S, Palevsky HI
Rheum Dis Clin North Am 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. PMID: 24268012
When should cardiologists suspect Anderson-Fabry disease?
Gambarin FI, Disabella E, Narula J, Diegoli M, Grasso M, Serio A, Favalli BM, Agozzino M, Tavazzi L, Fraser AG, Arbustini E
Am J Cardiol 2010 Nov 15;106(10):1492-9. doi: 10.1016/j.amjcard.2010.07.016. PMID: 21059442

Therapy

Non-specific gastrointestinal features: Could it be Fabry disease?
Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, Manna R, Politei J, Spada M, Burlina A
Dig Liver Dis 2018 May;50(5):429-437. Epub 2018 Mar 1 doi: 10.1016/j.dld.2018.02.011. PMID: 29602572
Female Fabry disease patients and X-chromosome inactivation.
Juchniewicz P, Kloska A, Tylki-Szymańska A, Jakóbkiewicz-Banecka J, Węgrzyn G, Moskot M, Gabig-Cimińska M, Piotrowska E
Gene 2018 Jan 30;641:259-264. Epub 2017 Oct 25 doi: 10.1016/j.gene.2017.10.064. PMID: 29079200
Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study.
Madsen CV, Bundgaard H, Rasmussen ÅK, Sørensen SS, Petersen JH, Køber L, Feldt-Rasmussen U, Petri H
Scand Cardiovasc J 2017 Aug;51(4):207-216. Epub 2017 May 25 doi: 10.1080/14017431.2017.1332383. PMID: 28545342
Pulmonary arterial hypertension related to connective tissue disease: a review.
Ahmed S, Palevsky HI
Rheum Dis Clin North Am 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. PMID: 24268012
Fabry disease: enzyme replacement therapy.
Bongiorno MR, Pistone G, Aricò M
J Eur Acad Dermatol Venereol 2003 Nov;17(6):676-9. doi: 10.1046/j.1468-3083.2003.00831.x. PMID: 14761135

Prognosis

Cardiac MRI of Hereditary Cardiomyopathy.
Fadl SA, Revels JW, Rezai Gharai L, Hanneman K, Dana F, Proffitt EK, Grizzard JD
Radiographics 2022 May-Jun;42(3):625-643. Epub 2022 Mar 11 doi: 10.1148/rg.210147. PMID: 35275782
Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease.
El Sayed M, Hirsch A, Boekholdt M, van Dussen L, Datema M, Hollak C, Langeveld M
Heart 2021 Dec;107(23):1889-1897. Epub 2021 Feb 10 doi: 10.1136/heartjnl-2020-317922. PMID: 33568430Free PMC Article
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.
Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A
Heart 2014 Nov;100(22):1793-8. Epub 2014 Jul 16 doi: 10.1136/heartjnl-2014-305616. PMID: 25031264
Pulmonary arterial hypertension related to connective tissue disease: a review.
Ahmed S, Palevsky HI
Rheum Dis Clin North Am 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. PMID: 24268012

Clinical prediction guides

Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
Hughes DA, Aguiar P, Lidove O, Nicholls K, Nowak A, Thomas M, Torra R, Vujkovac B, West ML, Feriozzi S
Orphanet J Rare Dis 2022 Feb 8;17(1):42. doi: 10.1186/s13023-022-02181-4. PMID: 35135579Free PMC Article
Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy.
Xiao Y, Sun Y, Tian T, Wang TJ, Zhao RX, Zhang Y, Wang LP, Liu YX, Lu CX, Zhou XL, Yang WX
Am J Med Sci 2021 Sep;362(3):260-267. Epub 2021 Jan 14 doi: 10.1016/j.amjms.2021.01.009. PMID: 34266644
Female Fabry disease patients and X-chromosome inactivation.
Juchniewicz P, Kloska A, Tylki-Szymańska A, Jakóbkiewicz-Banecka J, Węgrzyn G, Moskot M, Gabig-Cimińska M, Piotrowska E
Gene 2018 Jan 30;641:259-264. Epub 2017 Oct 25 doi: 10.1016/j.gene.2017.10.064. PMID: 29079200
Annexins as organizers of cholesterol- and sphingomyelin-enriched membrane microdomains in Niemann-Pick type C disease.
Domon M, Nasir MN, Matar G, Pikula S, Besson F, Bandorowicz-Pikula J
Cell Mol Life Sci 2012 Jun;69(11):1773-85. Epub 2011 Dec 13 doi: 10.1007/s00018-011-0894-0. PMID: 22159585
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.
Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C, Tanaka A, Kisanuki A, Tei C
Am J Cardiol 2001 Jan 1;87(1):71-5. doi: 10.1016/s0002-9149(00)01275-3. PMID: 11137837

Recent systematic reviews

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE
Int J Cardiol 2014 Dec 15;177(2):400-8. Epub 2014 Sep 20 doi: 10.1016/j.ijcard.2014.09.001. PMID: 25442977

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