Table 1.

Selected List of Syndromic Dilated Cardiomyopathy

Disorder 1Gene(s)MOIOther Clinical FeaturesComments
Barth syndrome TAFAZZIN (TAZ)XL
  • Neutropenia
  • Muscle weakness
  • Growth delay
  • Infantile/early-childhood onset
Carvajal syndrome (OMIM 605676) DSP AR
  • Woolly hair
  • Palmoplantar keratoderma
Duchenne & Becker muscular dystrophy DMD XLIn males:
  • Muscle weakness
  • ↑ serum CK levels
  • Loss of ambulation in childhood or later in life
Heterozygous females may present w/isolated DCM.
Emery-Dreifuss muscular dystrophy EMD
  • Joint contractures
  • ↑ serum creatine kinase (CK) levels
  • Childhood- or adult-onset muscle weakness
Conduction system disease &/or arrhythmias are common.
HFE hemochromatosis HFE AR
  • Cirrhosis
  • Diabetes
  • Hypermelanotic pigmentation
  • ↑ serum iron & ferritin levels
Nondilated &/or infiltrative cardiomyopathy is more frequent than DCM.
Laing distal myopathy MYH7 AD
  • Facial weakness
  • Childhood-onset weakness of ankles, great toes, finger extensors, & neck flexors
Mitochondrial DCM (See Mitochondrial Disorders Overview.)mtDNAMatComplex phenotypes incl:

AD = autosomal dominant; AR = autosomal recessive; Mat = maternal inheritance; MOI = mode of inheritance; XL = X-linked


Disorders are in alphabetic order.

From: Dilated Cardiomyopathy Overview

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