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Familial isolated restrictive cardiomyopathy

MedGen UID:
1825951
•Concept ID:
C5680139
•
Disease or Syndrome
Synonym: Familial or idiopathic restrictive cardiomyopathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Orphanet: ORPHA75249

Definition

A rare genetic cardiac disease characterized by restrictive ventricular filling due to high ventricular stiffness that results in severe diastolic dysfunction in the absence of dilated or hypertrophied ventricles. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Familial isolated restrictive cardiomyopathy

Professional guidelines

PubMed

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P
Clin Genet 2019 Oct;96(4):317-329. Epub 2019 Jul 18 doi: 10.1111/cge.13594. PMID: 31245841
Amyloid heart disease: a brief review of treatment options.
Dubrey SW
Postgrad Med J 2012 Dec;88(1046):700-5. Epub 2012 Jun 28 doi: 10.1136/postgradmedj-2012-130854. PMID: 22745180

Recent clinical studies

Etiology

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA
J Med Genet 2024 Mar 21;61(4):356-362. doi: 10.1136/jmg-2023-109513. PMID: 38050027
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P
Clin Genet 2019 Oct;96(4):317-329. Epub 2019 Jul 18 doi: 10.1111/cge.13594. PMID: 31245841
Outcome in patients treated with isolated liver transplantation for familial transthyretin amyloidosis to prevent cardiomyopathy.
Nelson LM, Penninga L, Villadsen GE, Mølgaard H, Eiskjaer H, Hillingsø JG, Rasmussen A
Clin Transplant 2015 Dec;29(12):1098-104. Epub 2015 Oct 21 doi: 10.1111/ctr.12633. PMID: 26361241
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
Kubo T, Gimeno JR, Bahl A, Steffensen U, Steffensen M, Osman E, Thaman R, Mogensen J, Elliott PM, Doi Y, McKenna WJ
J Am Coll Cardiol 2007 Jun 26;49(25):2419-26. Epub 2007 Jun 11 doi: 10.1016/j.jacc.2007.02.061. PMID: 17599605
Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group.
Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta M, Pinamonti B, Muntoni F, Caforio AL, McKenna WJ, Falaschi A, Giacca M, Camerini
J Am Coll Cardiol 1999 Jul;34(1):181-90. doi: 10.1016/s0735-1097(99)00172-2. PMID: 10400009

Diagnosis

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA
J Med Genet 2024 Mar 21;61(4):356-362. doi: 10.1136/jmg-2023-109513. PMID: 38050027
Distinguishing ventricular septal bulge versus hypertrophic cardiomyopathy in the elderly.
Canepa M, Pozios I, Vianello PF, Ameri P, Brunelli C, Ferrucci L, Abraham TP
Heart 2016 Jul 15;102(14):1087-94. Epub 2016 Apr 27 doi: 10.1136/heartjnl-2015-308764. PMID: 27122487Free PMC Article
Amyloid heart disease: a brief review of treatment options.
Dubrey SW
Postgrad Med J 2012 Dec;88(1046):700-5. Epub 2012 Jun 28 doi: 10.1136/postgradmedj-2012-130854. PMID: 22745180
Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?
Sen-Chowdhry S, McKenna WJ
Curr Opin Cardiol 2008 May;23(3):171-5. doi: 10.1097/HCO.0b013e3282fdc939. PMID: 18382203
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
Kubo T, Gimeno JR, Bahl A, Steffensen U, Steffensen M, Osman E, Thaman R, Mogensen J, Elliott PM, Doi Y, McKenna WJ
J Am Coll Cardiol 2007 Jun 26;49(25):2419-26. Epub 2007 Jun 11 doi: 10.1016/j.jacc.2007.02.061. PMID: 17599605

Therapy

Left ventricular noncompaction: a cardiomyopathy often mistaken.
Suvarna JC, Deshmukh CT, Hajela SA
Indian J Med Sci 2009 Jul;63(7):303-7. PMID: 19700911
Absence of viral nucleic acids in early and late dilated cardiomyopathy.
Mahon NG, Zal B, Arno G, Risley P, Pinto-Basto J, McKenna WJ, Davies MJ, Baboonian C
Heart 2001 Dec;86(6):687-92. doi: 10.1136/heart.86.6.687. PMID: 11711469Free PMC Article

Prognosis

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA
J Med Genet 2024 Mar 21;61(4):356-362. doi: 10.1136/jmg-2023-109513. PMID: 38050027
Distinguishing ventricular septal bulge versus hypertrophic cardiomyopathy in the elderly.
Canepa M, Pozios I, Vianello PF, Ameri P, Brunelli C, Ferrucci L, Abraham TP
Heart 2016 Jul 15;102(14):1087-94. Epub 2016 Apr 27 doi: 10.1136/heartjnl-2015-308764. PMID: 27122487Free PMC Article
Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?
Sen-Chowdhry S, McKenna WJ
Curr Opin Cardiol 2008 May;23(3):171-5. doi: 10.1097/HCO.0b013e3282fdc939. PMID: 18382203
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
Kubo T, Gimeno JR, Bahl A, Steffensen U, Steffensen M, Osman E, Thaman R, Mogensen J, Elliott PM, Doi Y, McKenna WJ
J Am Coll Cardiol 2007 Jun 26;49(25):2419-26. Epub 2007 Jun 11 doi: 10.1016/j.jacc.2007.02.061. PMID: 17599605
Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group.
Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta M, Pinamonti B, Muntoni F, Caforio AL, McKenna WJ, Falaschi A, Giacca M, Camerini
J Am Coll Cardiol 1999 Jul;34(1):181-90. doi: 10.1016/s0735-1097(99)00172-2. PMID: 10400009

Clinical prediction guides

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Meyer AP, Barnett CL, Myers K, Siskind CE, Moscarello T, Logan R, Roggenbuck J, Rich KA
J Med Genet 2024 Mar 21;61(4):356-362. doi: 10.1136/jmg-2023-109513. PMID: 38050027
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Ader F, De Groote P, Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P
Clin Genet 2019 Oct;96(4):317-329. Epub 2019 Jul 18 doi: 10.1111/cge.13594. PMID: 31245841
Distinguishing ventricular septal bulge versus hypertrophic cardiomyopathy in the elderly.
Canepa M, Pozios I, Vianello PF, Ameri P, Brunelli C, Ferrucci L, Abraham TP
Heart 2016 Jul 15;102(14):1087-94. Epub 2016 Apr 27 doi: 10.1136/heartjnl-2015-308764. PMID: 27122487Free PMC Article
Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?
Sen-Chowdhry S, McKenna WJ
Curr Opin Cardiol 2008 May;23(3):171-5. doi: 10.1097/HCO.0b013e3282fdc939. PMID: 18382203
Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group.
Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta M, Pinamonti B, Muntoni F, Caforio AL, McKenna WJ, Falaschi A, Giacca M, Camerini
J Am Coll Cardiol 1999 Jul;34(1):181-90. doi: 10.1016/s0735-1097(99)00172-2. PMID: 10400009

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