Familial isolated dilated cardiomyopathy

What it is

From: Orphanet

A rare familial cardiomyopathy characterized by the dilation of left ventricle and progressively impairing of systolic ventricular function, in the absence of abnormal loading conditions or coronary artery disease sufficient to cause global systolic impairment. The disease may cause heart failure or arrhythmia. The disease is isolated when no additional atypical cardiac or extracardiac manifestations are present.

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.

Dilated cardiomyopathy · Very frequent (99-80%)

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.

Left ventricular systolic dysfunction · Very frequent (99-80%)

Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.

Arrhythmia · Frequent (79-30%)

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.

Congestive heart failure · Frequent (79-30%)

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.

Edema · Frequent (79-30%)

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.

Exertional dyspnea · Frequent (79-30%)

Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.

Fatigue · Frequent (79-30%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Orthopnea · Frequent (79-30%)

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

EMG abnormality · Occasional (29-5%)

Abnormal results of investigations using electromyography (EMG).

Lipoatrophy · Occasional (29-5%)

Localized loss of fat tissue.

Myopathy · Occasional (29-5%)

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

Sensorineural hearing impairment · Occasional (29-5%)

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Thromboembolic stroke · Occasional (29-5%)

A cerebrovascular accident (stroke) that occurs because of thromboembolism.

When it may begin

From: Orphanet

All ages

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive; Mitochondrial inheritance; X-linked recessive

Frequency and the population described

From: Orphanet

Annual incidence: 1-9 / 100 000; Europe; Value and class. Point prevalence: 1-5 / 10 000; Europe; Value and class. Annual incidence: 1-9 / 100 000; United States; Value and class.

Which doctor should you see?

The suggested department for discussing Familial isolated dilated 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 dilated 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.