Associated Genetic Disorders

There are certain genetic disorders associated with dilated and hypertrophic cardiomyopathy in children which can be confirmed by genetic testing. To read more about the incidence, cause, symptoms and characteristics of these cardiomyopathy related disorders, click on the links below.

Hypertrophic Cardiomyopathy

Noonan Syndrome

  Incidence and Cause

  • Incidence of 1 in 1,000-2,500 live births
  • Autosomal dominant inheritance
  • Affected parent is recognized in 30%-75% of families.
  • 50% of cases due to genetic mutation in PTPN11 gene

  Symptoms and Characteristics

  • Distinctive physical/facial appearance: broad or webbed neck, short stature, low set ears, wide set eyes, small jaw, chest deformity, extra skin folds, congenital heart defects
  • Improperly formed bones, blood and lymph vessels; cardiomyopathy, irregular blood clotting, mild mental retardation.
Pompe Disease (Glycogen Storage Disease Type II)

  Incidence and Cause

  • Incidence of 1 in 100,000
  • Acid maltase (enzyme) deficiency -(body cannot break down glycogen)
  • Autosomal recessive inheritance

  Symptoms and Characteristics

  • Classic infantile-onset: low muscle tone, muscle weakness, cardiomyopathy, feeding difficulties, failure to thrive, respiratory distress, and hearing loss
Fatty Acid Oxidation Disorders (Carnitine cycle defects, DER, Glutaric Acidemia II, IBCD, LCAD, LCHAD, MADD, MCAD, MKAT, M/SCHAD, SCAD, TFPD, VLCAD)

  Incidence and Cause

  • Incidence of 1 in 10,000 live births (MCAD - most common form of FAOD)
  • Enzyme deficiency related to the production of energy from fatty acids
  • Autosomal recessive inheritance

  Symptoms and Characteristics

  • Recurrent episodes of illness caused by fasting or reduced food intake when sick, vomiting, severe lethargy that can progress to coma
  • Low blood sugar, respiratory distress, congestive heart failure with or without arrhythmias, muscle weakness, low muscle tone, cardiomyopathy
Mitochondrial HCM (complex I, II, III, IV deficiency, myoclonic epilepsy, mitochondrial myopathy, adenine nucleotide translocator, MELAS syndrome

  Incidence and Cause

  • Enzyme deficiency related to the production of energy in the mitochondria
  • Autosomal recessive or maternal inheritance

  Symptoms and Characteristics

  • Disturbances of brain and muscle function
  • Dementia, weakness, impaired hearing, short stature, exercise intolerance, retinopathy, low muscle tone, cardiomyopathy, respiratory issues

Dilated Cardiomyopathy

Barth Syndrome (3-methylglutaconic aciduria type II)

  Incidence and Cause

  • 1 in 200,000 male infants
  • Due to mutations in TAZ gene on the X chromosome
  • X-linked recessive inheritance (carrier mothers will pass to sons [affected] and daughters [carriers]. Affected fathers will pass to daughters [carriers])

  Symptoms and Characteristics

  • Changes in skeletal and cardiac muscle, weakened immune system, growth retardation or gross motor delays, short stature, low muscle tone, muscle weakness, increased levels of certain organic acids in the urine and blood, cardiomyopathy
  • Occurs nearly exclusively in male infants; females can be carriers
Muscular Dystrophies (Duchenne, Becker, Limb-Girdle 2F, X -linked Emery-Dreifuss)

  Incidence and Cause

  • Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males; caused by mutations in DMD gene, X-linked recessive inheritance (usually only males affected)
  • Limb-Girdle affects 1 in 14,500 to 1 in 123,000 individuals; Type 2F caused by mutations in SGCD gene, autosomal recessive inheritance
  • X-linked Emery-Dreifuss affects 1 in 100,000 people; caused by mutation in EMD gene; X-linked recessive inheritance (usually only males affected)

  Symptoms and Characteristics

  • The severity, age of onset, and features vary by individual disease and type
  • Progressive muscle wasting, abnormally curved lower back or spine, joint stiffness, cardiomyopathy
  • May have delayed motor skills, possibly need wheelchair assistance, mild to severe breathing problems
Mitochondrial Defects (Kearns-Sayre syndrome)

  Incidence and Cause

  • 1 to 3 per 100,000
  • Results from large deletion in mitochondrial DNA
  • Deletion leads to decrease in energy production, causing the brain and muscles to function improperly
  • Not generally inherited; maternal inheritance (rare)

  Symptoms and Characteristics

  • Neuromuscular disorder
  • Progressive paralysis of certain eye muscles, chronic inflammation and degeneration of retina, cardiomyopathy, muscle weakness, short stature, hearing lost, ataxia

For a listing of related support groups, visit the Cardiomyopathy Related Disorders link page.

 

 

 

Acquired Causes

 

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