Presentation
HCM most commonly presents in the second or third decade of life, but may present at any age. [patient.info]
[…] 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]
HCM can present from infancy through adulthood. [invitae.com]
This nonsense mutation is not present in 300 unrelated patients or unrelated healthy individuals, and yet it does not present the characteristics of a disease-causing mutation because it is inherited from the unaffected mother and the unaffected grandmother [circ.ahajournals.org]
Seven (50%) of the 14 mutation carriers presented a positive phenotype on initial assessment; LV systolic function was preserved in all of them. No patient presented significant obstruction at rest. [elsevier.pt]
Entire Body System
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Fatigue
[…] 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]
Children with severe HCM may have symptoms of heart failure such as difficulty breathing, fatigue, a persistent cough, abdominal pain, vomiting and/or swelling around the eyes and legs (edema). [childrenscardiomyopathy.org]
In the report the patient described dyspnoea and fatigue which corresponded to the recording of increased heart rate. [escardio.org]
[…] may be more likely in HCM because of stiff ventricles and the loss of atrial transport. 23 Clinical Presentation and Diagnosis Many patients with HCM are asymptomatic, whereas others develop HF symptoms, including LVOT gradients, dyspnea on exertion, fatigue [uspharmacist.com]
Breast feeding Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy Habitus: Overweight CNS: Episodic encephalopathy Muscle Fatigue (35%) Muscle pain (31%) Exercise tolerance: Reduced Proximal weakness: Transient reported Cardiac: Few features Course [neuromuscular.wustl.edu]
Neurologic
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Confusion
HCM is a complex and confusing disorder that has been a subject of intense scrutiny for the past 50 years and of great interest to cardiologists, geneticists and pathologists. [omicsonline.org]
Workup
(See Physical Examination and Workup.) [emedicine.medscape.com]
Treatment
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]
Symptomatic HCM treatment with beta-blockers and non-DHP calcium channel blockers is the mainstay of therapy. Appropriate treatment monitoring and medication education should be part of a global treatment approach. [uspharmacist.com]
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]
With early diagnosis and prompt treatment, the prognosis is generally good. [dovemed.com]
Common Treatments Your cardiologist will decide what medications or treatments you may require. Many patients will not need any medications, particularly if there are no symptoms. [heartregistry.org.au]
Prognosis
Adverse prognosis of patients with hypertrophic cardiomyopathy who have epicardial coronary artery disease. Circulation 2003; 108: 2342-2348 31 Olivotto I, Cecchi F, Casey SA et al. [thieme-connect.com]
With early diagnosis and prompt treatment, the prognosis is generally good. [dovemed.com]
Other tests may be ordered to help determine a child's medical management and prognosis. [childrenscardiomyopathy.org]
Whilst HCM phenocopies are relatively rare, it is crucial to distinguish these conditions at an early stage as their natural history, management and prognosis vary significantly from that of HCM with sarcomeric mutations. [aerjournal.com]
(See Prognosis, History, Physical Examination, and Workup.) Decades ago, HCM was written about and known as idiopathic hypertrophic subaortic stenosis (IHSS) or asymmetrical septal hypertrophy (ASH). [emedicine.medscape.com]
Etiology
Myocardial dysfunction associated with cardiomyopathy can either be of mechanical or electrical etiology. [beta.labcorp.com]
The following risk factors for SCD were also analyzed 10 : • family history of SCD : non-traumatic premature death (at age ICD ) shock; • unexplained syncope of non-neurocardiogenic etiology; • nonsustained ventricular tachycardia ( VT ): one or more [elsevier.pt]
[…] general adult population Prevalence of HCM in children is unknown, but population based studies report an annual incidence of 0.3 to 0.5 per 100,000 Occurs in all ethnic groups and equally in both sexes Most affected individuals remain unidentified Etiology [pathologyoutlines.com]
(Etiology) Familial Hypertrophic Cardiomyopathy is caused by mutations in the MYH7, MYBPC3, TNNT2, TNNI3, and some other unidentified genes. [dovemed.com]
Epidemiology
Australian male Genetics Mutation: Lys92Arg CALR3 protein Ca -binding chaperone Localized mainly in endoplasmic/sarcoplasmic reticulum Colocalizes with: SPTLC2 CMH 20 Nexilin (NEXN) ; Chromosome 1p31.1; Dominant Epidemiology: Chinese families Genetics [neuromuscular.wustl.edu]
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 [beta.labcorp.com]
Epidemiology United States statistics Hypertrophic cardiomyopathy (HCM) is relatively common in the United States, with an estimated prevalence of 0.2% (1 case per 500 population [7] ) in adults. [emedicine.medscape.com]
[…] 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]
Epidemiology HCM is the most common genetic cardiovascular disease. HCM is generally inherited as an autosomal dominant trait with variable penetrance and expressivity. A minority of cases reflect a sporadic, non-familial form of the disease. [patient.info]
Pathophysiology
[…] 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]
Genetic mutations can be identified in approximately 60% of patients; these are most common in genes that encode proteins of the cardiac sarcomere. [ 5 ] Management The pathophysiology of HCM is complex, leading to significant variability in clinical [patient.info]
Echocardiography plays a pivotal role in detecting the disease and understanding its pathophysiology. [cardiovascularultrasound.biomedcentral.com]
Karger AG, Basel References Maron BJ, Bonow RO, Cannon RO III, Leon MB, Epstein SE: Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med 1987;316:780–789. [karger.com]
Complications Complications of HCM may include the following: Congestive heart failure Ventricular and supraventricular arrhythmias Infective mitral endocarditis Atrial fibrillation with mural thrombus formation Sudden death Pathophysiology Since the [emedicine.medscape.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]
Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death. Heart 2002; 87: 169-176 14 O’Mahony C, Tome-Esteban M, Lambiase PD et al. [thieme-connect.com]
Patients with multiple risk factors for sudden death benefit from implantable cardioverter defibrillator (ICD) implantation for primary prevention. [patient.info]
Pharmacological restoration of Ca2 homeostasis prevented development of hypertrophy and electrophysiological irregularities. [ucdavis.pure.elsevier.com]
Prevention of sudden death in athletes. Pediat Therapeut. 2015 Aug 20. 5:e129. [Full Text]. Maron BJ, Spirito P, Ackerman MJ, et al. [emedicine.medscape.com]