Congenital malformations - Edocr

CHAPTER 32 CARDIOMYOPATHY 211
TABLE 32-1 Genetic Disorders Associated with Cardiomyopathy
Disorder Other Findings Pattern of Inheritance
Barth syndrome Cyclic neutropenia; elevated plasma X-linked; mutation in the
lactate; 3-methylglutaconic aciduria; G4.5 gene for tafazzin
ventricular non-compaction
Beckwith-Wiedemann Macrosomia; macroglossia; umbilical Defect in genomic imprinting
syndrome defects; hypoglycemia; with overexpression of
hepatosplenomegaly
genes on chromosome
11p15
Cardio-facio-cutaneous Dysmorphic facies, pulmonic stenosis, Autosomal dominant;
(CFC) syndrome sparse hair, skin lesions; mental most cases new mutations
retardation
Congenital disorders Mental retardation; hypotonia; Autosomal recessive
of glycosylation
hepatomegaly; abnormal fat
(CDG syndromes) distribution
Costello syndrome Macrocephaly; coarse facies; loose skin Autosomal dominant
on hands and feet; perioral, nasal, and
perianal papillomata; mental retardation
Leopard syndrome Hypertelorism; multiple lentigenes; pectus Autosomal dominant;
excavatum; pulmonic stenosis
mutation in PTPN11
Long chain fatty acid Hypotonia; hypoglycemia triggered by Autosomal recessive
oxidation disorders fasting or intercurrent illness; elevated
(VLCAD deficiency, CK; abnormal acylcarnitine profile
LCHAD deficiency)
Mitochondrial Widely variable clinical and laboratory Autosomal recessive or
respiratory findings. May include hypotonia, mitochondrial (maternal)
chain defects
seizures, lactic acidosis, abnormal
urine organic acids
Mucopolysaccharidoses Coarse facies; hepatosplenomegaly; Most are autosomal
stiff joints; recurrent respiratory
recessive
infections; dysostosis multiplex; valve Mucopolysaccharidosis
thickening; cardiac findings may be type II (Hunter syndrome)
first manifestation
is X-linked
Noonan syndrome Hypertelorism; low set, posteriorly rotated Autosomal dominant;
ears; webbed neck; pectus excavatum; mutation in PTPN11,
cryptorchidism; dysplastic stenotic
KRAS, or unidentified
pulmonary valve; lymphatic abnormalities; gene
mental retardation in 25%
Pompe disease Hypotonia; macroglossia; short PR interval Autosomal recessive;
and huge QRS complexes on ECG deficiency of
alpha-glucosidase
Primary carnitine Fasting hypoglycemia; hypotonia; weakness Autosomal recessive
deficiency (carnitine
uptake defect)