It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting [books.google.com]

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]

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]

The initial presentation of HCM can be as benign as a heart murmur noted on a physical examination, while other patients may present with symptoms of palpitations, chest pain, heart failure or syncope. [genedx.com]

(See Physical Examination and Workup.) [emedicine.medscape.com]

The authors explain in a readable style the complex process of the heart's development, the molecular basis of cardiovascular diseases, and the translation of these research advances to actual clinical treatments. [books.google.com]

At UT Southwestern, we can offer patients an extended myectomy surgery if other treatment options don’t work. [utswmedicine.org]

At age 4 years she developed diabetes mellitus necessitating insulin treatment. [pediatrics.aappublications.org]

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]

With early diagnosis and prompt treatment, the prognosis is generally good. [dovemed.com]

Hypertrophic cardiomyopathy shows marked heterogeneity in clinical expression and prognosis. [scinapse.io]

Prognosis of CMH varies greatly among patients from some patients leading a perfectly normal life, to some with a rapidly worsening course of the disease. [cags.org.ae]

(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]

Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy. Circulation. 2010;122:2441–2449. 49. Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. [dovepress.com]

Etiology The causes of cardiomyopathies are varied ( Table 2 ). 1 Dilated cardiomyopathy in adults is most commonly caused by CAD (ischemic cardiomyopathy) and hypertension, although viral myocarditis, valvular disease, and genetic predisposition may [aafp.org]

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]

No single mode of inheritance is typical of HCM, although autosomal dominant transmission is most common; a variety of phenotypic expressions occur that appear to have genetic as well as non-genetic causes, suggesting that HCM may not be a single etiologically [omicsonline.org]

Mutations: Q131E; R279C Allelic with: CMD 1CC CMH 21 ● Chromosome 7p12.1-q21; Dominant Epidemiology: 1 family Clinical Onset age: 13 years to Adult Cardiac failure Sudden death CMH 22 ● Myopalladin gene (MYPN) ; Chromosome 10q21.3; Dominant Genetics [neuromuscular.wustl.edu]

[…] 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]

B 9 Epidemiology In 2006, the AHA classified cardiomyopathies as primary (i.e., genetic, mixed, or acquired) or secondary (e.g., infiltrative, toxic, inflammatory). 1 The four major types are dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive [aafp.org]

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 [ncbi.nlm.nih.gov]

[…] 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]

Am J Cardiol 53:1087–1094 Google Scholar Maron BJ, Bonow RO, Canon RO, Leon MB, Epstein SE (1987) Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology and therapy. [springerlink.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]

LosiMA, NistriS, GalderisiM, BetocchiS, CecchiF, et al. (2010) Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment. Cardiovasc Ultras 8: 1476-1498. [omicsonline.org]

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]

Patients with multiple risk factors for sudden death benefit from implantable cardioverter defibrillator (ICD) implantation for primary prevention. [patient.info]

Use of implantable defibrillator in HCM for prevention of sudden death in young people. 2. Introduction of catheter-based alcohol septal ablation to reduce obstruction and symptoms as a treatment alternative to surgery for some HCM patients. 3. [books.google.com]

However, in some individuals, a cardiac arrest may the first presentation, which can even be fatal Currently, there are no guidelines or methods available to prevent inherited forms of hypertrophic cardiomyopathy. [dovemed.com]

We assessed whether this strategy results in the prevention of sudden death from hypertrophic cardiomyopathy, a common cardiovascular cause of death in young athletes. [scinapse.io]