Table 1. [Selected List of Syndromic Dilated Cardiomyopathy]. - GeneReviews®

Disorder ¹	Gene(s)	MOI	Other Clinical Features	Comments
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	XL	In 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 FHL1	XL	Joint contractures ↑ serum creatine kinase (CK) levels Childhood- or adult-onset muscle weakness	Conduction system disease &/or arrhythmias are common.
LMNA	AD AR
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.)	mtDNA	Mat	Complex phenotypes incl: Focal segmental glomerulosclerosis Kearns-Sayre syndrome

Disorder ¹

Gene(s)

MOI

Other Clinical Features

Comments

Barth syndrome

TAFAZZIN (TAZ)

Neutropenia
Muscle weakness
Growth delay
Infantile/early-childhood onset

Carvajal syndrome (OMIM 605676)

DSP

Woolly hair
Palmoplantar keratoderma

Duchenne & Becker muscular dystrophy

DMD

In 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
FHL1

Joint contractures
↑ serum creatine kinase (CK) levels
Childhood- or adult-onset muscle weakness

Conduction system disease &/or arrhythmias are common.

LMNA

AD
AR

HFE hemochromatosis

HFE

Cirrhosis
Diabetes
Hypermelanotic pigmentation
↑ serum iron & ferritin levels

Nondilated &/or infiltrative cardiomyopathy is more frequent than DCM.

Laing distal myopathy

MYH7

Facial weakness
Childhood-onset weakness of ankles, great toes, finger extensors, & neck flexors

Mitochondrial DCM (See Mitochondrial Disorders Overview.)

mtDNA

Mat

Complex phenotypes incl:

Focal segmental glomerulosclerosis
Kearns-Sayre syndrome

From: Dilated Cardiomyopathy Overview

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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