Familial isolated restrictive cardiomyopathy

What it is

From: Orphanet

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.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal left ventricular function · Very frequent (99-80%)

Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.

Interstitial cardiac fibrosis · Frequent (79-30%)

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.

Left atrial enlargement · Frequent (79-30%)

Increase in size of the left atrium.

Pulmonary venous hypertension · Frequent (79-30%)

An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.

Right atrial enlargement · Frequent (79-30%)

Increase in size of the right atrium.

Atrial fibrillation · Occasional (29-5%)

An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.

Dyspnea · Occasional (29-5%)

Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.

Hepatomegaly · Occasional (29-5%)

Abnormally increased size of the liver.

Hypertrophic cardiomyopathy · Occasional (29-5%)

Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

Mitral regurgitation · Occasional (29-5%)

An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.

Orthopnea · Occasional (29-5%)

A sensation of breathlessness in the recumbent position, relieved by sitting or standing.

Peripheral edema · Occasional (29-5%)

An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.

Postnatal growth retardation · Occasional (29-5%)

Slow or limited growth after birth.

Pulmonary edema · Occasional (29-5%)

Fluid accumulation in the lungs.

Other findings in the same source

From: Orphanet

Additional reported features include Recurrent respiratory infections (Occasional (29-5%)); Supraventricular arrhythmia (Occasional (29-5%)); Tricuspid regurgitation (Occasional (29-5%)); Stroke (Very rare (<4-1%)); Syncope (Very rare (<4-1%)); Thromboembolism (Very rare (<4-1%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive; Not applicable

Frequency and the population described

From: Orphanet

Point prevalence: Unknown; Europe; Class only.

Which doctor should you see?

The suggested department for discussing Familial isolated restrictive cardiomyopathy is Cardiology, with a cardiologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Is the main concern heart structure, rhythm, circulation or another cause?
• Which symptoms should change the timing of follow-up?
• How would a proposed investigation change the care plan?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Familial isolated restrictive cardiomyopathy. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.