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]

Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. [malacards.org]

• Weakness

  In contrast to mature cardiomyocytes, the histiocytoid cells showed only weak reactions to desmin and myosin antibodies. They lacked cross-striation but reacted strongly to enolase and myoglobin antibodies. [ncbi.nlm.nih.gov]

  Feeling dizzy, tired, or weak. Fast heart rate. Swelling in the legs, ankles, or abdomen. Feeling anxious. Signs of a stroke. Sudden numbness or weakness of the face, arm, or leg (especially on one side of the body). [rarecancers.org.au]

  Additional features include lactic acidosis, muscle weakness and/or myoglobinuria. [genecards.org]

• Swelling

  Specialty Cardiology Symptoms Shortness of breath, feeling tired, swelling of the legs[1] Complications Heart failure, irregular heart beat, sudden cardiac death[1][2] Types Hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy [en.wikipedia.org]

  Swelling in the legs, ankles, or abdomen. Feeling anxious. Signs of a stroke. Sudden numbness or weakness of the face, arm, or leg (especially on one side of the body). Sudden confusion or trouble speaking or understanding. [rarecancers.org.au]

  The marked increase in cell size is due to cytoplasmic distention by both swelling and proliferation of mitochondria(3). [conganat.org]

  Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. [ghr.nlm.nih.gov]

• Inflammation

  There was no inflammation, however, and no unequivocal viral particles could be found. Moreover, lipid accumulation is not a feature in any of the viral myocarditides with which we are familiar(14). [conganat.org]

  […] of and injury to heart tissue due in part to its infiltration by lymphocytes and monocytes[23][24] Eosinophilic myocarditis, inflammation of and injury to heart tissue due in part to its infiltration by eosinophils[23] Ischemic cardiomyopathy (not formally [en.wikipedia.org]

  DCM can also be secondary to systemic causes such as inflammation, malnutrition and infectious, autoimmune or endocrine diseases. In high-income countries, such as the UK, alcohol overuse contributes to 21-36% of cases (Weintraub et al, 2017). [nursingtimes.net]

  In cases of acute inflammation, myocardial thickening and increased T2 signal indicative of edema can be seen (,21), with a subepicardial or midmyocardial enhancement pattern (,28). [pubs.rsna.org]

• Fever

  Coughing 0012735 Cyanosis Blue discoloration of the skin 0000961 Drowsiness Sleepy 0002329 Exercise intolerance Decreased ability to exercise Inability to exercise [ more ] 0003546 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Fever [rarediseases.info.nih.gov]

  Some of the clinical difficulty and progression of cardiac electrical instability could be attributed to extracardiac problems such as dehydration (vomiting, diarrhea) or fever(23). The lesions are in a dynamic state of development/ progression(4). [conganat.org]

• Asymptomatic

  […] from the SAM; intrinsic valvular abnormalities may also be present Autonomic dysfunction in HCM presents as systemic vasodilatation with fall in blood pressure associated with bradycardia during exercise Clinical features Many individuals with HCM are asymptomatic [pathologyoutlines.com]

  Patients with cardiomyopathies may be completely asymptomatic or experience a wide variety of signs and symptoms (Fig 2). Box 1. [nursingtimes.net]

• Failure to Thrive

  AB - A 3–week–old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. [moh-it.pure.elsevier.com]

  A 3-week-old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. Morphologic studies of the heart showed enlarged muscle fibers with large accumulations of mitochondria, characteristic of histiocytoid cardiomyopathy. [ncbi.nlm.nih.gov]

  We describe a sporadic case of an infant with the A8344G mtDNA mutation who presented with failure to thrive and sudden unexpected death at 11 months of age. [pubmed.cn]

  Abstract Summary: A 3-week-old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. [nature.com]

• Diarrhea

  Some of the clinical difficulty and progression of cardiac electrical instability could be attributed to extracardiac problems such as dehydration (vomiting, diarrhea) or fever(23). The lesions are in a dynamic state of development/ progression(4). [conganat.org]

• Dizziness

  Sudden trouble walking or feeling dizzy. Sudden loss of balance or coordination. Sudden severe headache for no known reason. Sometimes heart tumors do not cause any symptoms at all and sudden death may occur. [rarecancers.org.au]

  […] common in young people.[2] Signs and symptoms[edit] Symptoms of cardiomyopathies may include fatigue, swelling of the lower extremities and shortness of breath after exertion.[10] Additional symptoms of the condition may include arrhythmia, fainting, and dizziness [en.wikipedia.org]

• Seizure

  Seizure 0001250 Shortened PR interval 0005165 Thromboembolism 0001907 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Showing of 42 | Last updated: 3/1/2020 Making a diagnosis for a genetic or rare disease can [rarediseases.info.nih.gov]

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

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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. Last updated: 5/1/2008 [rarediseases.info.nih.gov]

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. The documents contained in this web site are presented for information purposes only. [orpha.net]

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

[…] endocardial fibroelastosis left ventricle hypoplasia (hypoplastic left heart) corneal opacities microphtalmos microphthalmia with linear skin defects syndrome (MLS) (12900578) cataracts cleft palate hydrocephalus agenesis of corpus callosum renal cysts Etiology [humpath.com]

The findings presented in this manuscript may represent components of genetic etiologies for this heterogeneous disease. Two probands had de novo non-sense mutations in the second exon of the X-linked nuclear gene NDUFB11. [gene-tools.com]

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]

Summary 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. [orpha.net]

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

ISBN 978-0-07-180215-4. ^ 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. [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]