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Familial isolated hypertrophic cardiomyopathy

Orpha number ORPHA155
Synonym(s) Familial isolated hypertrophic obstructive cardiomyopathy
Familial isolated hypertrophic subaortic stenosis
Familial or idiopathic hypertrophic subaortic stenosis
Familila or idiopathic hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy
Primitive hypertrophic obstructive cardiomyopathy
Primitive hypertrophic subaortic stenosis
Prevalence >1 / 1000
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • I42.2
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Familial isolated hypertrophic cardiomyopathy (FHCM) is a primary cardiac disease characterized by an asymmetrical hypertrophy of the left ventricle, which frequently involves the interventricular septum. The prevalence was evaluated at 1/5,000 and recently re-estimated at 1/500. Hence, this disease would not be rare. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disease often leads to a slight-to-moderate invalidation and carries a high incidence of sudden death, usually caused by ventricular tachyarrythmia. FHCM is a genetic disorder inherited in an autosomal dominant manner with variable penetrance and variable expressivity. Many genes encoding for sarcomeric proteins including beta-myosin heavy chain, myosin light chain, cardiac troponines T and I, cardiac protein C, alpha-tropomyosin, cardiac actin, and titin were identified to play a role in the etiology of the disease. The management includes medication with beta-blockers or calcium channel blockers; sometimes surgical operation (ventricular myomectomy) is indicated. Cardiac stimulation (pace maker) and septal ablation represent recent management alternatives. The surgical implantation of an automatic defibrillator may prevent the sudden death. Restrictions in the sport activities are recommended in all cases.

Expert reviewer(s)

  • Dr Philippe CHARRON

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Detailed information

Clinical practice guidelines
  • FR (2011,pdf)
Guidance for genetic testing
  • EN (2011,pdf)
Clinical genetics review
  • EN (2014)
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