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Pediatric Hypertrophic Cardiomyopathy Genetics

Genetic testing of sarcomere genes (MYH7, MYBPC3, TNNT2, TNNI3) for risk stratification, family screening, and reproductive counseling in pediatric hypertrophic cardiomyopathy.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Pediatric Hypertrophic Cardiomyopathy Genetics?

Hypertrophic cardiomyopathy (HCM) is a genetic disorder of asymmetric left ventricular hypertrophy without secondary cause. Pediatric prevalence 0.3-0.5/100,000. Highest risk of sudden cardiac death in young athletes (especially competitive sports). Patterns: asymmetric septal hypertrophy (most common), apical, midventricular obstruction, and concentric. Annual progression: hypertrophy increase, LVOT obstruction, mitral SAM, fibrosis.

Genetic basis: 60-70% sarcomere proteins - MYH7 (beta-myosin heavy chain 40%), MYBPC3 (myosin binding protein C 35%), TNNT2 (troponin T 5%), TNNI3 (troponin I 5%), TPM1 (tropomyosin), ACTC1 (alpha-cardiac actin), MYL2/MYL3 (myosin light chains), TTN (titin). Syndromic HCM: Noonan/Costello (RAS-MAPK), mitochondrial (Leigh, MELAS), glycogen storage (Pompe, Danon), Friedreich ataxia, amyloidosis.

Genetic testing protocol: NGS panel testing (15-20 sarcomere + syndromic genes), variant classification (ACMG criteria), cascade screening of first-degree relatives, prenatal diagnosis option (PGD), pediatric surveillance protocol (Echo + ECG annually). Risk stratification: sudden death risk score (HCM-SCD-Risk Calculator), MRI fibrosis (LGE), Holter monitoring, exercise test. Treatment: beta-blocker, disopyramide, septal myectomy, ICD (high-risk).

Symptoms

Exertional dyspnea and chest pain
Syncope and presyncope
Palpitation and arrhythmia
Family history of sudden cardiac death
Sports-induced symptoms
Asymptomatic - imaging finding

Risk Factors

Family history of HCM
Sarcomere gene mutation (MYH7, MYBPC3)
Septum thickness >30mm
Family history of sudden death
Non-sustained VT (Holter)
Late gadolinium enhancement (MRI)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Family history of HCM
  • Family history of sudden cardiac death
  • Pediatric murmur + asymmetric LVH
  • Sports pre-participation exam
  • Genetic counseling preparation
  • First-degree relative with positive mutation

Treatment Methods

01
Genetic counseling (pre-test)
02
NGS panel testing (15-20 genes)
03
Cascade screening of family members
04
Annual echo + ECG surveillance
05
Cardiac MRI (LGE evaluation)
06
Risk stratification (SCD-Risk Calculator)

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.