Possible Genetic Disorders Associated
with Hypertrophic Cardiomyopathy

Disease/ Syndrome

Symptoms & Characteristics

Incidence & Cause

Noonan Syndrome

  • 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

  • Skeletal malformations, malformations of blood and lymph vessels, cardiomyopathy, blood clotting, mild mental retardation

  • Incidence of 1 in 2,500 live births

  • Autosomal dominant inheritance

  • 50% of cases due to genetic mutation in PTPN11 gene

Pompe Disease

  • Excess glycogen accumulated in lysosomes

  • Poor muscle tone

  • Incidence of 1 in 100,000

  • Enzyme deficiency of acid maltase (glycogen storage disease type II)

  • Autosomal recessive disease

Fatty Acid Oxidation (carnitine deficiency, CPT, MCAD, VLCAD, LCHAD, LCAD, SCHAD, glutaric acidemia II, beta oxidation spiral defects)

  • Recurrent episodes of illness caused by fasting or reduced food intake when sick, vomiting, severe lethargy that can progress to coma

  • Hypoglycemia, respiratory distress, congestive heart failure with or without arrhythmias, muscle weakness, low muscle tone

  • Incidence of 1 in 10,000 live births (MCAD - most common form of FOD)

  • Enzyme deficiency related to the production of energy from fatty acids

  • Autosomal recessive inheritance

Mitochondrial HCM (complex I, II, III, IV deficiency, myoclonic epilepsy, mitochondrial myopathy, adenine nucleotide translocator, MELAS syndrome

  • Disturbances of brain and muscle function

  • Dementia, weakness, impaired hearing, short stature, exercise intolerance, retinopathy, low muscle tone, respiratory issues

  • Enzyme deficiency related to the production of energy in the mitochondria

  • Maternal or autosomal recessive inheritance

Possible Genetic Disorders Associated
with Dilated Cardiomyopathy

Disease/ Syndrome

Symptoms & Characteristics

Incidence & Cause

Barth Syndrome

  • Abnormalities in skeletal and cardiac muscle, weakness in 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.

  • Occurs exclusively in male infants. Females can be carriers.

  • Due to altered X chromosome related to mutations in G4.5 or BTHS gene.

  • Maternal (X-linked) recessive inheritance

  • 50/50 chance of inheritance if mother is a carrier

Mitochondrial Defects (Kearns-Sayre syndrome)

  • Neuromuscular disorder

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

  • Defect in mitochondria that produces energy causing the brain and muscles to function improperly

  • Autosomal dominant, recessive or maternal inheritance

For more detailed information on these diseases and syndromes, visit the Links & Resource section or review these sites:

National Organization of Rare Diseases
Barth Syndrome
Fatty Acid Oxidation
Noonan Syndrome
Pompe Disease
United Mitochondrial Disease Foundation