Table 1.

Syndromic Hypertrophic Cardiomyopathy – A Selected List

Disorder 1Gene(s)MOIAdditional Clinical Features
Danon disease LAMP2 XL
  • Skeletal myopathy
  • Retinal dystrophy
Fabry disease GLA XL
  • Periodic crises of pain in extremities
  • Agniokeratomas
  • Hypohidrosis
  • Ocular abnormalities
  • Proteinuria & deterioration of renal function
Friedreich ataxia FXN AR
  • Slowly progressive ataxia before age 25 years
  • Dysarthria
  • Muscle weakness
Glycogen storage disease of the heart, lethal congenital
(OMIM 261740)		 PRKAG2 AD
  • Neonatal hypoglycemia
  • Vacuolar myopathy
  • Mild facial dysmorphia &/or macroglossia in some
Hereditary transthyretin amyloidosis TTR AD
  • Slowly progressive peripheral sensorimotor neuropathy & autonomic neuropathy
  • Vitreous opacities
  • CNS amyloidosis
Pompe disease GAA AR
  • Poor feeding
  • Macroglossia
  • Motor delay / muscle weakness
  • Respiratory difficulty
RASopathies 2 incl: BRAF
HRAS
KRAS
LZTR1
MAP2K1
MAP2K2
NRAS
PTPN11
RAF1
RASA2
RRAS2
RIT1
SOS1
SOS2 		AD
  • Characteristic facies
  • Short stature
  • Variable developmental delay
  • Broad, webbed neck
  • Unusual chest shape
1.

Disorders are in alphabetic order.

2.

The RASopathies are a group of syndromes that have overlapping clinical features resulting from a common pathogenetic mechanism [Tidyman & Rauen 2009].

From: Hypertrophic Cardiomyopathy Overview

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