Paula and Bobby
Parents of Lillie
Cardiomyopathy, Familial Hypertrophic, 6; CMH6
What is Cardiomyopathy, Familial Hypertrophic, 6; CMH6?
Cardiomyopathy, Familial Hypertrophic, 6; CMH6 is a rare disease. It is also known as Hypertrophic cardiomyopathy.
Blair et al., (2001) studied two families with severe hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome. A missense mutation and an in-frame single codon insertion was found in highly conserved regions of the gene. A father and son were reported by Kelly et al., (2009) - the son with an onset at six months. ECG showed a short PR interval. PRKAG2-related cardiomyopathy is characterized by cardiac glycogen overload, ventricular preexcitation and hypertrophy. The onset is prenatal. The PRKAG2 gene encodes the gamma2 subunit of AMP-activated protein kinase (AMPK) this complex provides a central sensing mechanism, protecting cells from the exhaustion of ATP supplies.
Xu et al. (2016) described a patient with hypertrophic cardiomyopathy due to a novel heterozygous missense mutation in the PRKAG2 gene. Prenatal diagnosis of hypertrophic cardiomyopathy was made at 27 weeks of gestation. Electrocardiogram after birth revealed an extremely short PR interval and combined ventricular hypertrophy. Development was normal. The clinical course was non-progressive.
* This information is courtesy of the L M D.
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What gene changes cause Cardiomyopathy, Familial Hypertrophic, 6; CMH6?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 600858 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
PRKAG2 - 7q36.1
What are the main symptoms of Cardiomyopathy, Familial Hypertrophic, 6; CMH6?
The typical symptoms of the syndrome are:
Atrial fibrillation, Asymmetric septal hypertrophy, Autosomal dominant inheritance, Hypertrophic cardiomyopathy, Atrioventricular block, Left bundle branch block, Sinus bradycardia, Ventricular preexcitation, Wolff-Parkinson-White syndrome
How does someone get tested for Cardiomyopathy, Familial Hypertrophic, 6; CMH6?
The initial testing for Cardiomyopathy, Familial Hypertrophic, 6; CMH6 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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