Table 1.

Muscular dystrophies with cardiac phenotypes

Classification	Muscular	Inheritance	Incidence	Mutation	Protein(s)	Localisation	Age of onset	Key clinical	Cardiac	Ref
	dystrophy	Pattern			affected			features	Involvement
DCM	Duchenne	X-linkedrecessive	1:5000 boys	Variable	Dystrophin	Sarcolemma associated	<5 years	muscle weakness;wheelchair in teens;	ECG abnormalities, Arrhythmias	[202]
								mild cognitive impairment, death in 20s/30s
	Becker	X-linkedrecessive	1:18450 boys	Variable		Sarcolemma associated	Teenage	muscle weakness; respiratory failure might develop by late 40s	ECG abnormalities	[203]
	Limb-girdle type 2C-2F	Autosomal recessive	unknown,usuallysporadic	Variable	α, β, γ, δ- Sarcoglycan	Sarcolemma associated	Early to adult childhood	Muscle weakness, difficult ambulation, calf hypertrophy	ECG abnormalities	[204]
	Limb-girdle 2I	Autosomal recessive		Most common: missense mutations (leu276Ileu)	Fukutin-related protein gene	Golgi membrane		Muscle weakness	DCM (30–80% of cases), ECG abnormalities	[205, 206]
	MDC1A	Autosomal Recessive	1:30000	INDELs, missense and nonsense mutations in LAMA2	Partial or complete deficiency in Laminin α2	Extracellular matrix	Birth or first 6 months of life	Hypotonia, poor suck and cry, delayed motor development, never achieve ambulation.	Sub-clinical findings in about 35% of patients with cardiac evaluation; Variable cardiac phenotype; ECG abnormalities; right bundle branch block	[82, 207]
CSD	DM1	Autosomal dominant	1:8000	CTG repeats in DMPK 3’UTR	DMPK	Differential subcellular localisation	Congenital, childhood adult	Mild- Cataracts, mild myotonia; Classic- Myotonia, cardiac abnormalities, cataract;	ECG abnormalities Ectopic beats, atrial and ventricular tachycardias, atrial fibrillations, sudden cardiac death	[208]
	DM2	Autosomal dominant	10% of DM	CCTG repeats in CNBP	CCHC-type zinc finger		Adult, usually fourth decade	Congenital- Respiratory and cardiac defects, intellectual disability	Arrhythmias, conduction defects
	Facioscapulohu-meral	Autosomal dominant	1:20,000	shortened repeats (1-10) in D4Z4	DUX4	Nuclear	childhood to adult	Facial muscle weakness; can affect legs; normal life span but children with infantile form in wheelchair by 10	Rare cardiac defects: supraventricular tachycardia and AVS block	[209]
CSD and DCM	Limb-girdle type 1B	Autosomal dominant	Unknown,usuallysporadic	Missense &deletion in rod domain of LMNA	lamin A andlamin C	Nuclear envelope	Early childhood to adult	Muscle weakness	CSD, DCM, AV conduction defects, atrial standstill/ flutter/ fibrillation, arrhythmias	[210]
	Emery-Dreifuss	X-linked recessive, autosomal dominant or recessive	1-2/100000	Variable, mostly point mutation (> 49%) in EMD		Nuclear membrane	First or second decade, sometimes adult	Joint contracture in childhood; progressive muscle weakness	AV conduction defects, fibrosis, a atrial standstill/ flutter/ fibrillation, (DCM, rare)	[211]
				Nonsense and missense mutation in LMNA				cardiac involvement