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familial restrictive cardiomyopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial restrictive cardiomyopathy

MONDO:0016340

Also known as:hereditary restrictive cardiomyopathy

Find Clinical TrialsTrials

Overview

An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.

OnsetANTENATAL, INFANTILE, CHILDHOOD

Clinical Trials7 registered · 3 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: before birth, infancy, childhood.

GeneReviews

Clinical Guidance

Gaucher disease (GD) encompasses a spectrum of clinical findings from a perinatal-lethal form to an asymptomatic form. However, for the purposes of determining prognosis and management, the classification of GD by clinical type is still useful in describing the wide range of clinical findings and broad variability in presentation. Three major clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary central nervous system (CNS) involvement .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings Scenario 1: Abnormal Newborn Screening (NBS) Result NBS for Gaucher disease (GD) is primarily based on quantification of glucocerebrosidase enzyme activity on dried blood spots. Glucocerebrosidase enzyme activity values below the cutoff reported by the screening laboratory are considered positive, and additional testing is required to establish the diagnosis . Scenario 2: Symptomatic Individual GD encompasses a continuum of clinical findings from a perinatal-lethal disorder to type 1 GD with adult onset. GD should be suspected in individuals (by age) with the following combination of central nervous system, bony, hematologic, and other clinical and family history findings . Table 1. Gaucher Disease: Clinical Phenotypes

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial restrictive cardiomyopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical management guidelines for Gaucher disease (GD) have been published . Management by a multidisciplinary team with expertise in treating GD is available at Comprehensive Treatment Centers (see National Gaucher Foundation).

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with GD, the evaluations summarized in or (if not performed as part of the evaluation that led to the diagnosis) are recommended. Recommended evaluations following initial diagnosis can vary based on age at diagnosis, mode of ascertainment (e.g., asymptomatic vs symptomatic individual), and presence or absence of primary neurologic involvement. Baseline (pre-treatment) assessments may be useful in selecting treatment modality and regimen (e.g., enzyme dose, frequency of infusion).

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Physicians who are the US regional coordinators for the International Collaborative Gaucher Group Registry (ICGG) and other groups have published recommendations for comprehensive serial monitoring of the severity and rate of disease progression [, , , ]. A European working group has also published a consensus document relating to management goals for individuals with type 1 GD . To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

7 clinical trials registered, 3 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 1 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06794710](https://clinicaltrials.gov/study/NCT06794710)

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:217635

GARD

Genetic and Rare Diseases Info Center

GARD:20532

Questions for Your Care Team

→Are any of the 7 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Age of Onset	Phenotype	Primary CNS Involvement	Bone Disease1	Other
Adult	Type 1	No	Yes	Splenomegaly; Hepatomegaly; Cytopenia2
Pulmonary disease Infancy to early childhood	Type 2 (acute; infantile)	Bulbar signs; Pyramidal signs	—	—
Cognitive impairment	No	Hepatomegaly; Splenomegaly; Cytopenia2; Pulmonary disease	—	—
Dermatologic changes Childhood	Type 3 (subacute; juvenile)	Oculomotor apraxia; Seizures	—	—
Progressive myoclonic epilepsy	Yes	Hepatomegaly; Splenomegaly; Cytopenia2	—	—
Pulmonary disease Perinatal	Perinatal-lethal form	Pyramidal signs	No	Ichthyosiform or collodion skin changes
Nonimmune hydrops fetalis Childhood to early adolescence	Cardiovascular form	Oculomotor apraxia	Yes	Calcification of mitral aortic valves; Corneal opacity; Mild splenomegaly CNS = central nervous system 1. Osteopenia, focal lytic or sclerotic lesions, and/or osteonecrosis 2. Family history is consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity).

Research Type	Count	% of Total
Research summaries	11	28%
Patient case studies	9	23%
Testing and diagnosis research	6	15%
Laboratory research	5	13%
Disease patterns and progression	5	13%
New treatment approaches	3	8%
Clinical study results	1	3%

Kisho

familial restrictive cardiomyopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Type 1 GD

Differential Diagnosis

Lysosomal Storage Disorders

General

Musculoskeletal

Hepatosplenomegaly

Clinical Guidance

Therapies Under Investigation

Clinical Trials

General

Clinical disease markers:2

Musculoskeletal

Coronal T1- T2-weighted MRI of hips to distal femur

Recent Publications

Latest News & Developments

Potential Contribution of DES (p.Leu88Met) and MYH7 (p.Arg787His) Variants to Familial Restrictive Cardiomyopathy.

familial restrictive cardiomyopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Type 1 GD

Differential Diagnosis

Lysosomal Storage Disorders

General

Musculoskeletal

Hepatosplenomegaly

Clinical Guidance

Therapies Under Investigation

Clinical Trials

General

Clinical disease markers:2

Musculoskeletal

Coronal T1- T2-weighted MRI of hips to distal femur

Recent Publications

Latest News & Developments

Potential Contribution of DES (p.Leu88Met) and MYH7 (p.Arg787His) Variants to Familial Restrictive Cardiomyopathy.