Presentation
This is a highly visual, case-based approach that covers the spectrum of the clinical presentation of heart failure. Each chapter revolves around one or more cases that best represent the diagnosis and treatment of a specific type of heart failure. [books.google.de]
[…] as a result of medial hypertrophy and thickening of arteriolar walls, associated with luminal narrowing Mitral regurgitation may be present due to distortion of the mitral valve apparatus from the SAM; intrinsic valvular abnormalities may also be present [pathologyoutlines.com]
His retinal reflex was slightly prior to this presentation to ED, his health visitor had referred him to GP at 7 weeks of age for reduced feeding and poor weight gain. [omicsonline.org]
HCM can present from infancy through adulthood. [invitae.com]
Entire Body System
- Fatigue
Affected individuals may also experience excessive sweating, fatigue, wheezing, and paleness of the skin (pallor). [rarediseases.org]
[…] single copy of the defective gene in each cell of an individual is sufficient to cause the condition Familial Hypertrophic Cardiomyopathy can be asymptomatic, or present with symptoms such as chest pain, shortness of breath while lying down or sleeping, fatigue [dovemed.com]
It can cause structural heart abnormalities that lead to arrhythmias, palpitations, shortness of breath and fatigue. [livestrong.com]
Symptoms of HCM can occur at any age and may include: Chest pain or pressure (occurs usually with exercise or physical activity, but can also occur with rest or after meals) Shortness of breath (dyspnea), especially with exertion Fatigue (feeling overly [webmd.com]
It can result in symptoms such as: general weakness and fatigue shortness of breath, particularly during exertion or exercise lightheadedness and dizziness chest pain heart palpitations fainting attacks high blood pressure edema, or swelling, of your [healthline.com]
- Precocious Puberty
Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism 149 [books.google.de]
Workup
(See Physical Examination and Workup.) [emedicine.medscape.com]
Repeat serum and CSF lactate were 4 and 2 mmol/L respectively; as his metabolic workup was unremarkable he was discharged after a normal newborn examination. [omicsonline.org]
Treatment
Each chapter revolves around one or more cases that best represent the diagnosis and treatment of a specific type of heart failure. [books.google.de]
Treatment What are the treatments for hypertrophic cardiomyopathy? No treatments currently exist to prevent or reverse HCM-related symptoms. However, symptoms can be managed by a range of medications and other treatments. [myresults.org]
Treatment - Asymmetric septal hypertrophy Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD) Resources - Asymmetric septal hypertrophy Not supplied. [checkorphan.org]
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. [rarediseases.info.nih.gov]
Treatment modalities including medications, pacemakers and defibrillators, and invasive septal reduction therapy (both surgical myectomy and alcohol septal ablation) will be discussed. [books.google.com]
Prognosis
Authors also address the rapidly expanding field of familial-based cardiomyopathies and the difficult task of determining prognosis. [books.google.de]
Diagnosis - Asymmetric septal hypertrophy Prognosis - Asymmetric septal hypertrophy Not supplied. [checkorphan.org]
However, results are sometimes unclear; testing cannot detect all mutations; and results cannot be used to predict whether a person will develop symptoms, age of onset, or long-term outlook ( prognosis ). [2] Last updated: 11/30/2015 How can I find a [rarediseases.info.nih.gov]
With early diagnosis and prompt treatment, the prognosis is generally good. [dovemed.com]
[…] of the condition. 31 Treatment of cardiac amyloidosis is generally supportive due to the poor prognosis of the condition. [aerjournal.com]
Etiology
Elucidation of the molecular basis of cardiomyopathies has led to a categorization of the phenotypes according to their genetic etiology. [what-when-how.com]
Once aforementioned diagnosable causes of DCM have been excluded, the etiology of DCM can be either genetic (familial) or non-genetic. [crcd.eu]
Etiology In FDC, there is clear evidence of Mendelian segregation of disease phenotype. FDC is a heterogeneous entity (Table 2 ). [ojrd.biomedcentral.com]
(Etiology) Familial Hypertrophic Cardiomyopathy is caused by mutations in the MYH7, MYBPC3, TNNT2, TNNI3, and some other unidentified genes. [dovemed.com]
Epidemiology
It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders. [books.google.de]
The precise epidemiology of RCM is unknown but true RCM is a rare disease. [crcd.eu]
Consequently, the genetic epidemiology of mutations in FDC genes across all FDC families remains unknown. [ojrd.biomedcentral.com]
Epidemiology In contrast to coronary heart disease having a higher incidence in the elderly, cardiomyopathies can occur at younger ages. [patient.info]
[…] stenosis (IHSS) or hypertrophic obstructive cardiomyopathy (HOCM) are not preferred terms, as obstruction to left ventricular outflow is not invariably present in HCM One third of patients have no obstruction either at rest or with physiologic provocation Epidemiology [pathologyoutlines.com]
Pathophysiology
Chapters are consistently formatted to include an overview of underlying pathophysiology, presentation of the representative ìteachingî case, and a discussion of optimal management including assessment of current evidence and guidelines. [books.google.de]
[…] 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]
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The cardiomyopathies are a group of disorders characterized by disease of the heart muscle. [mayomedicallaboratories.com]
Society and Federation of Cardiology (ISFC) Task Force on the Definition and Classification of the Cardiomyopathies expanded the classification to include all diseases affecting heart muscle and to take into consideration etiology as well as the dominant pathophysiology [what-when-how.com]
Prevention
Familial Hypertrophic Cardiomyopathy is a genetic condition, and therefore, there are no guidelines or specific methods for preventing the condition from developing. [dovemed.com]
Prevention Because hypertrophic cardiomyopathy is inherited, it can't be prevented. But it's important to identify the condition as early as possible to guide treatment and prevent complications. [mayoclinic.org]
How Can I Prevent Endocarditis? People with obstructive HCM may be at increased risk for infective endocarditis, a potentially life-threatening condition. [webmd.com]
[…] and to prevent further damage and loss of function. [healthline.com]
Symptoms - Asymmetric septal hypertrophy Causes - Asymmetric septal hypertrophy Prevention - Asymmetric septal hypertrophy Not supplied. Diagnosis - Asymmetric septal hypertrophy Prognosis - Asymmetric septal hypertrophy Not supplied. [checkorphan.org]