Table 1.

Causes of Restrictive Cardiomyopathies With Associated Genetic Perturbations

Acquisition modeGenetic Perturbations
Infiltrative
 AmyloidosisAcquired/inheritedTTR gene variants (V122I; I68L; L111M; T60A; S23N; P24S; W41L; V30M; V20I), APOA1
 SarcoidosisAcquired
 Primary hyperoxaluriaInheritedAGXT (type 1), GRHPR (type 2), HOGA1 (type 3)
Storage diseases
 Fabry diseaseInheritedGLA
 Gaucher diseaseInheritedGBA
 Hereditary hemochromatosisInheritedHAMP, HFE, HFE2, HJV, PNPLA3, SLC40A1, TfR2
 Glycogen storage diseaseInheritedPer specific type
 Mucopolysaccharidosis type I (Hurler syndrome)InheritedIDUA
 Mucopolysaccharidosis type II (Hunter syndrome)InheritedIDS
 Niemann–Pick diseaseInheritedNPC1, NPC2, SMPD1
Noninfiltrative
 IdiopathicAcquired
 Diabetic cardiomyopathyAcquired
 SclerodermaAcquired
 Myofibrillar myopathiesInheritedBAG3, CRYAB, DES, DNAJB6, FHL1, FLNC, LDB3, MYOT
 Pseuxanthoma elasticumInheritedABCC6
 Sarcomeric protein disordersInheritedACTC, β-MHC, TNNT2, TNNI3, TNNC1, DES, MYH, MYL3, CRYAB
 Werner’s syndromeInheritedWRN
Endomyocardial
 Carcinoid heart diseaseAcquired
 Endomyocardial fibrosis
 IdiopathicAcquired
  Hypereosinophilic syndromeAcquired
  Chronic eosinophilic leukemiaAcquired
  Drugs (serotonin, methysergide, ergotamine, mercurial agents, busulfan)Acquired
 Endocardial fibroelastosisInheritedBMP5, BMP7, TAZ
 Consequence of cancer/cancer therapy
  Metastatic cancerAcquired
  Drugs (anthracyclines)Acquired
  RadiationAcquired