Genetics testing: hypertrophic cardiomyopathy
 
Geneva:
+4122 840 33 34
 
Moscow:
+7(903)720 80 57

Cardiology – Hypertrophic cardiomyopathy

a-    Background

Hypertrophic cardiomyopathy (HCM, OMIM#192600) is a well-known primary disease of the myocardium. HCM is defined by unexplained ventricular hypertrophy with preferential hypertrophy of the septum and anterior left ventricular wall in the absence of a detectable cause.

This disorder has a prevalence within the general population of one in 500, or 0.2%. It follows a heterogeneous autosomal dominant inheritance pattern and often develops during childhood and adolescence. Individuals with the disease may develop myocardial ischemia, arrhythmia or heart failure. Notably, HCM is the most common cause of sudden cardiac death in young adults and athletes.

Genes encoding for cardiac sarcome proteins accounts for up to 60% of cases of HCM. The remaining causes include other genetic syndromes (mostly inherited metabolic and neuromuscular disorders) and non-genetic factors mimicking the genetic form of the disease.

b-   How does it work ?

  • Stage 1: Patient identification
    Discussion of personnal and family history
    Eplanation of genetic testing options
  • Stage 2: Sample submission
    The patient’s sample and necessary paperwork are sent to the laboratory
  • Stage 3: Genetic testing
    At the laboratory, genetic testing for most genes includes next-generation sequencing and/or exon aray analysis
  • Stage 4: Genetic test results
    Contains information on the results of the genetic test and available medical management options.
    The final report is sent to the ordering HPC, Health and Prevention Center specialist
  • Stage 5: Post-test discussion
    HPC, Health and Prevention Center specialist discusses the test resutls, medical management options, and implication for family members with the patient

c-   To whom it is recommended?

Clinical indication

This test is indicated for:

  • Diagnosis confirmation and refinement of a patient with a definite or suspected cardiomyopathy
  • Predictive diagnosis in asymptomatic relatives

Patient Eligibility

  • Individuals with a suspected or confirmed diagnosis of HCM
  • Individuals with a family history of sudden death
  • Individuals with left ventricular thickening and suspected HCM
  • Athletes with ventricular hypertrophy
  • Genetic study of family members for abnormalities identified in index cases

d-    Why choose this assay?

Test Benefits & Risk Management

Benefits of this test are:

  • The diagnosis confirmation and refinement of a patient supposedly affected by HCM, e.g. discrimination between HCM and other causes of left ventricular (LV) hypertrophy, including hypertension, “athlete’s heart” and other metabolic or infiltrative storage disorders with LV hypertrophy that can mimic clinically diagnosed HCM (Fabry disease, Noonan disease, Danon disease, etc.).
    An early identification, would allow an earlier treatment of these different conditions.
  • The subsequent identification of affected relatives in families where a causative HCM mutation has already been found. This would allow an earlier management of at-risk members and avoid unnecessary further screening of non-carriers.

Risk management includes, but is not limited to: 

  • Monitoring of the disease: Regular cardiologic evaluation is advised to detect clinical signs of HCM and to estimate the risk of sudden cardiac death.
  • Lifestyle changes: Intense physical activity (e.g., burst activities, sprinting), or systematic isometric exercise (e.g., heavy lifting) will be discouraged.
  • Implantable cardiac defibrillators (ICDs) for secondary or primary prevention in patients at right risk of sudden cardiac death.
  • A range of drugs exists to manage specific symptoms. For instance, drugs appropriate to control heart failure symptoms, such as beta-blockers, which may be used to relieve palpitation and calcium antagonists, which can similarly reduce palpitations and chest pains.
  • Surgical septal myectomy, which removes some of the thickened muscle from the septum thereby relieving obstruction or alcohol septal ablation for progressive and drug-refractory heart failure caused by left ventricular outflow tract (LVOT) obstruction.
  • Heart transplantation for systolic (or less frequently intractable diastolic) dysfunction associated with severe unrelenting symptoms.
  • Drug therapy (Disopyramide, amiodarone, dronedarone) or possibly radiofrequency ablation or surgical maze procedure for atrial fibrillation.

 e–   What is investigated?

Panel composition

Gene MIM Gene Related disease
ACTC1 102540 HCM, DCM, LVNC
GLA 300644 Fabry disease
MYBPC3 600958 HCM, DCM, LVNC
MYH7 160760 HCM, DCM, LVNC
MYL2 160781 HCM
MYL3 160790 HCM
PRKAG2 602743 Glycogen storage disease of heart, leathal congenital, HCM
PTPN11 176876 Noonan syndrome, Leopard syndrome
TNNI3 191044 HCM, DCM, LVNC, RCM
TNNT2 191045 HCM, DCM, LVNC, RCM
TPM1 191010 HCM, DCM, LVNC

HCM: Hypertrophic cardiomyopathy; DCM: Dilated cardiomyopathy; LVNC: Left ventricular non-compaction; RCM: Restictive cardiomyopathy

Technical Details

Methodology

  • Targeted capture of all coding exons and exon-intron boundaries followed by NGS.

TAT

 6 weeks on average. Urgent testing is available upon request.

Cost CHF 5’700.00

Comments
Laboratory exams
Patient registration form
Topics
Examination Incorpore
age management
Anti-aging
prevention
weight management
detoxification
weight loss
nutrition
oncology
cancer
allergy
dermatology
skin
oncology treatment
diagnosis
cardiology
heavy metal
immunology
check-up
Fertility
cosmetology
skincare
stem cells
Genetics
Blood pressure
DNA
gynecology
pain
liver detox
heart MRI
Examination partner centres
infertility
Allergology
chelation
covid19
liver
urology
Allergology treatment
gastroenterology
Sleep
tinnitus
probiotics
pregnancy
joints
radiology
headache
Hepatitis C
Apnea
NAD+
obstetrics
mesotherapy
rehabilitation
arsenic
candida
andropause
immune system
neurology
breast cancer
immunotherapy
research
PRP
menopause
rhesus factor
pancreas
knee
oncoloy
propofole
magnesium
hand
cellulite
nephrology
R-loops
abdominal pain
migraine
reconstruction
erectile dysfunction
diet
Omega-3
hormones
hip
shoulder
telomere
obstertics
blood test
general surgery
back pain
colonoscopy
mercury
flu
mastectomy
regeneration
water
Treatment programs
kidney
proctology
cellmen
reflexology
hyaluronic acid
acnea
oral checkup
pomegranate
cellcosmet
sexuality
gastroscopy
migraines
dermatitis
liquid biopsy
rheumatology
vitamin K
anti-aging
gastritis
chronic headaches
orthopedics
food
preventiion
ulcer
endocrinology
Дерматология
vitamin b12
herniated disc
endometriosis
digestion
stress
intestinal flora
beauty
brain surgery awake
acne
ophthalmology
depression
exercise
beau-rivage
nutrigenomics
psoriasis
narcosis
LED therapy
flu vaccine
plastic surgery
iron
sports
excimer laser
lungs
food intolerances
second opinion
cholesterol
light therapy
biopsy
pneumology
mammography
diabetes
sugar
Free healthcare advise