Symptoma

Familial Cardiac Lipidosis

Here, we present a 19-month-old male infant who died of heart failure, and an autopsy was performed and confirmed the diagnosis of HC. [ncbi.nlm.nih.gov]

  • Sudden Infant Death Syndrome

    In such instances, sudden infant death syndrome (SIDS) is often considered. Grossly, the affected heart usually shows small, multifocal, subendocardial or myocardial yellow-tan nodular lesions or poorly defined plaques. [ncbi.nlm.nih.gov]

    The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. [malacards.org]

    Infants present with dysrhythmia or cardiac arrest, and the clinical course is usually fulminant, sometimes simulating sudden infant death syndrome ({1:Andreu et al., 2000}). Source: Online Mendelian Inheritance in Man [diseaseinfosearch.org]

  • Corneal Opacity

    There was a complex malformation of the brain with hydrocephalus and bilateral corneal opacities and microphthalmos. The affected myofibres had a swollen vacuolated or granular cytoplasm and rounded nuclei giving a histiocytoid appearance. [ncbi.nlm.nih.gov]

    opacities microphtalmos microphthalmia with linear skin defects syndrome (MLS) (12900578) cataracts cleft palate hydrocephalus agenesis of corpus callosum renal cysts Etiology missense mutation in the mitochondrial cytochrome b gene (10960495) defect [humpath.com]

    opacity 0007957 Hemiplegia Paralysis on one side of body 0002301 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypoglycemia Low blood sugar 0001943 Lactic acidosis Increased lactate in body 0003128 Laryngeal web 0005950 Lethargy 0001254 [rarediseases.info.nih.gov]

  • Right Bundle Branch Block

    bundle branch block 0011712 Stroke-like episode 0002401 Tachypnea Increased respiratory rate or depth of breathing 0002789 Vomiting Throwing up 0002013 Wolff-Parkinson-White syndrome 0001716 1%-4% of people have these symptoms Agenesis of corpus callosum [rarediseases.info.nih.gov]

3 Histiocytoid cells have an arrhythmogenic potential and conventional treatment of arrhythmia is not effective. [revespcardiol.org]

If the arrhythmia persists for a long period of time, then surgical treatment measures may be considered Surgical removal of the nodules Occasionally, in children with extensive heart nodules, heart transplantation may be a treatment option Observation [dovemed.com]

Prognosis The prognosis in general is poor and the disease is usually fatal. Last updated: 5/1/2008 [rarediseases.info.nih.gov]

[…] in children, cases of WPW in combination with histiocytoid cardiomyopathy are uniformly fatal, due to the poor prognosis of histiocytoid cardiomyopathy alone. [heart.bmj.com]

Prognosis The prognosis in general is poor and the disease is usually fatal. Visit the Orphanet disease page for more resources. [malacards.org]

We discuss the differential diagnosis, proposed theories of etiology, and the pathology of this rare entity. [ncbi.nlm.nih.gov]

Clinically, the patient presented with suspected dilated cardiomyopathy and cardiac arrhythmias, however the etiology was unclear. [escardio.org]

This lesion is not a tumour of Purkinje cell but a cardiomyopathy of unknown etiology and pathogenesis, the possible suggestions are: - Persistence of early developmental stage of myocytes with their change into oncocytes. [histopathology-india.net]

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. [rarediseases.info.nih.gov]

Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology [journals.sagepub.com]

This article, the first in a two-part series, discusses the classification, pathophysiology and presentation of cardiomyopathies. [nursingtimes.net]

Pathophysiology of heart disease : a collaborative project of medical students and faculty. Lilly, Leonard S., Harvard Medical School. (5th ed.). Baltimore, MD: Wolters Kluwer/Lippincott Williams & Wilkins. 2011. ISBN 978-1605477237. [en.wikipedia.org]

[…] disease expression Sporadic HCM can reflect an inaccurate family history, incomplete penetrance or a de novo mutation which may be heritable Patients who are genotype positive may be phenotypically negative without overt hypertrophy (subclinical HCM) Pathophysiology [pathologyoutlines.com]

Cardiomyopathies were then classified according to their own peculiar pathophysiological features, such as: (a) dilated, in the setting of dilatation and poor contractility of the ventricles; (b) hypertrophic, in the presence of unexplained hypertrophy [academic.oup.com]

How can Histiocytoid Cardiomyopathy be Prevented? Presently, there are no specific methods or guidelines to prevent Histiocytoid Cardiomyopathy. [dovemed.com]

Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention [journals.sagepub.com]

[…] identify high risk patients due to differences in penetrance and expressivity Treatment Surgical myectomy or alcohol septal ablation are performed in cases with outflow obstruction to alleviate symptoms Implantable cardioverter defibrillators (ICDs) can prevent [pathologyoutlines.com]

Am J Surg Pathol 11:503–515 PubMed CrossRef Google Scholar Kijima Y, Kamiya T, Susuki A, Hirose O, Manabe H (1982) A trial procedure to prevent aneurysm formation of the coronary arteries by steroid pulse therapy in Kawasaki disease. [link.springer.com]