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 Incorpore specialist
  • Stage 5: Post-test discussion
    Incorpore 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
nutrition
oncology
prevention
dermatology
cancer
Anti-aging
age management
detoxification
skin
diagnosis
heavy metal
cardiology
immunology
liver detox
oncology treatment
DNA
pain
Genetics
stem cells
allergy
Fertility
weight management
infertility
weight loss
liver
cosmetology
gastroenterology
Sleep
gynecology
Examination partner centres
rehabilitation
chelation
obstetrics
pregnancy
headache
check-up
anti-aging
candida
radiology
immune system
neurology
urology
arsenic
breast cancer
immunotherapy
probiotics
NAD+
mesotherapy
Apnea
tinnitus
Дерматология
joints
Hepatitis C
heart MRI
covid19
Blood pressure
skincare
ulcer
research
abdominal pain
sugar
menopause
migraine
beau-rivage
hyaluronic acid
Allergology
pancreas
gastritis
flu vaccine
gastroscopy
rhesus factor
preventiion
brain surgery awake
andropause
sexuality
obstertics
PRP
light therapy
nutrigenomics
excimer laser
psoriasis
regeneration
telomere
mastectomy
narcosis
hand
shoulder
intestinal flora
depression
second opinion
iron
Omega-3
R-loops
cellmen
mammography
cellcosmet
herniated disc
magnesium
flu
reflexology
vitamin K
exercise
beauty
sports
cholesterol
Treatment programs
stress
knee
hip
vitamin b12
food
mercury
water
back pain
erectile dysfunction
food intolerances
diabetes
acne
endometriosis
LED therapy
biopsy
oral checkup
liquid biopsy
blood test
reconstruction
acnea
digestion
migraines
chronic headaches
oncoloy
diet
dermatitis
endocrinology
rheumatology
pomegranate
orthopedics
colonoscopy
propofole
cellulite
proctology
pneumology
general surgery
hormones
nephrology
kidney
lungs
plastic surgery
ophthalmology