Infantile histiocytoid cardiomyopathy

Title

Other Names:

Infantile xanthomatous cardiomyopathy; Focal lipid cardiomyopathy; Oncocytic cardiomyopathy; Infantile xanthomatous cardiomyopathy; Focal lipid cardiomyopathy; Oncocytic cardiomyopathy; Foamy myocardial transformation of infancy; Histiocytoid cardiomyopathy See More

Categories:

Congenital and Genetic Diseases; Heart Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 137675

Disease definition

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

Epidemiology

The prevalence is unknown but less than 100 patients have been described in the literature so far. The majority of reported cases involved children under 2 years of age with a female:male ratio of 3:1.

Clinical description

Clinically, the disease may manifest as various types of incessant arrhythmia (including atrial and ventricular fibrillation, supraventricular and ventricular tachycardia and Wolff-Parkinson-White syndrome; see this term) but sudden death due to cardiac arrest is a common presentation. Association with other cardiac defects (ventricular and atrial septal defects, hypoplastic left heart syndrome and endocardial fibroelastosis; see these terms) and with extracardiac anomalies (hypotonia, MIDAS syndrome, Peter's anomaly and congenital glaucoma; see these terms) has also been reported.

Etiology

Histiocytoid cardiomyopathy was largely suspected to be caused by a developmental anomaly of the conduction system, however, a mtDNA mutation in the gene encoding mitochondrial cytochrome b ( MT-CYB) has been identified. In familial cases (5% of reported patients), inheritance appears to be autosomal recessive but X-linked transmission has also been suggested in patients with the association of histiocytoid cardiomyopathy and MIDAS syndrome (an X-linked dominant condition caused by mutations in the HCCS gene localised to Xp22).

Diagnostic methods

The histological findings are pathognomonic for the disease with yellow-tan nodules in the myocardium and, in some cases, in the subendocardial and subepicardial areas. The nodules are composed of nests of foamy histiocyte-like cells with a granular cytoplasm containing lipid droplets and abundant atypical mitochondria. These abnormal myocytes are found mainly in the ventricles but involvement of the valves has also been reported.

Differential diagnosis

As sudden infant death is frequently the presenting manifestation, sudden infant death syndrome (SIDS) is often the initial diagnosis in these cases but can be ruled out by histological evaluation of the myocardial tissue.

Management and treatment

Management options for patients presenting with arrhythmias include surgical removal of the nodular lesions, and electrophysiological mapping and radiofrequency ablation of the arrhythmias. Antiarrhythmics are generally ineffective but one patient showed a good response to treatment with amiodarone.

Prognosis

The prognosis in general is poor and the disease is usually fatal.

Visit the Orphanet disease page for more resources.

Last updated: 5/22/2008

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

Orphanet lists international laboratories offering diagnostic testing for this condition.

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Patient Registry

Histiocytoid Cardiomyopathy Registry
Bahig M. Shehata, MD
Emory University School of Medicine
Children's Healthcare of Atlanta at Egleston
1405 Clifton Road
Atlanta, GA 30322
Telephone: 404-785-1390
E-mail: bshehat@emory.edu
Website: http://www.pathology.emory.edu/AdminFacultyMember.cfm?Name_seq=709

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Infantile histiocytoid cardiomyopathy. Click on the link to view a sample search on this topic.

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