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Cardiomyopathy - Dilated
What is Cardiomyopathy - Dilated?
Cardiomyopathy - Dilated is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Dilated cardiomyopathy can have a variety of aetiologies. The incidence is estimated to be 5-8 cases per 100,000 and approximately 20-30% of cases have a familial form (Bowles et al., 1996). In some families it is transmitted as an autosomal dominant. Burch and Runciman (1996) provide a useful review of the clinical features. 20-30% of cases may have a familial component. The most common inheritance pattern is autosomal dominant, but X-linked and autosomal recessive families have also been reported. McMinn and Ross (1995) and Olson and Keating (1997) provide a good review of the genetics and differential diagnosis.
There are several diiferent loci and genes involved in autsomal dominant isolated cardiomyopathy. Schonberger and Seidman (2001) provide a good review.
Selenium deficiency can also lead to a form of dilated cardiomyopathy. This is endemic in the Keshan province of China (Li et al., 1985) but can also follow parenteral nutrition (Levy et al., 1994; Larner, 1994).
Grasso et al., (2001) described a 36 year old man with dilated cardiomyopathy, who was found to have a T12297C mutation in mitochondrial DNA. This mutation has also been found in an Italian family with endocardial fibroelastosis (Tessa et al., 1997).
Muntoni et al., (1993, 1995) reported a family where deletion of the dystrophin muscle-promoter region was associated with X-linked dilated cardiomyopathy. The break points in this and another case were studied by Bastianutto et al., (2001).
Gerull et al., (2002) demonstrated mutations in the TTN gene in two large dominant families segregating for dilated cardiomyopathy. This codes for a giant muscle filament titin. This gene maps to 2q31. Seven mutations in MYH7 were reported by Villard et al., (2005). They suggest that this is the most frequently mutated gene.
Isolated dilated cardiomyopathy with or without atrial fibrillation can be caused by mutations in the LMNA gene (Sebillon et al., (2003).
Chien, (2003) gives a good review of the genetics of cardiomyopathy up to the beginning of 2003. A mutation in the gene LDB3 at 10q22 was reported by Vatta et al., (2003) in a family with cardiomyopathy and ventricular non-compaction. Moller et al., (2009), studied a cohort of 31 unrelated Danish patients. There were 3 MYH7 mutations, one in MYBPC3 and one in TNNT2. Three mutations known to cause hypertrophic cardiomyopathy were found in patients with the dilated type. BAG3 has also been implicated in Japanese families (Arimura et al., 2011).
Two sibs reported by Louw et al., (2014) with a mitogenic form of dilated cardiomyopathy had homozygous mutations in ALMS1, the gene responsible for Alstrom syndrome
In a large Bedouin family with a dilated cardiomyopathy and left ventricular noncompaction (Muhammad et al., (2015) mutations were found in PLEKHM2. Lysosomes appeared to be concentrated in the perinuclear region and autophagy flux was impaired.
Homozygous mutations in a cardiac ubiquitin ligase (FBXO32, can also cause this condition (Al Hassnan et al., 2016)
* This information is courtesy of the L M D.
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What gene changes cause Cardiomyopathy - Dilated?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
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.
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
Environment - Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.
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.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Cardiomyopathy - Dilated?
The typical symptoms of the syndrome are:
How does someone get tested for Cardiomyopathy - Dilated?
The initial testing for Cardiomyopathy - Dilated 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.
What is FDNA Telehealth?
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