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Familial amyloidosis
[Related to transthyretin TTR]
Familial Amyloidosis Panel [TTR gene sequencing]: The deposition of amyloid is common on the cardiac level, and it may be the first manifestation of the disease. The presentation is usually left ventricular hypertrophy, therefore patients may be initially diagnosed as suffering from hypertrophic cardiomyopathy. There is a familial amyloid cardiomyopathy (autosomal dominant inheritance pattern) caused by mutations in the transthyretin gene (TTR). Over 100 mutations associated with different phenotypes, including neuropathic, cardiac, renal and ocular forms, have been described in this gene. The prevalence of this disease is unknown.
TTR gene sequencing is recommended for individuals with a clear or suspected TTR familial amyloidosis.
Hypertrophic cardiomyopathy panels [18/118 genes]: They include both the primary sarcomeric genes and all phenocopies of the disease, as well as secondary and candidate genes gathered from a systematic literature review.
The deposition of amyloid is common on the cardiac level, and it may be the first manifestation of the disease. The presentation is usually left ventricular hypertrophy, therefore patients may be initially diagnosed as suffering from hypertrophic cardiomyopathy. There is a familial amyloid cardiomyopathy (autosomal dominant inheritance pattern) caused by mutations in the transthyretin gene (TTR), that is included in both our Hypertrophic cardiomyopathy panels 18/118 genes].
Cardiomyopathies General Panel [204 genes]: It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases (including hereditary TTR amyloidosis), and congenital heart diseases.
It includes priority genes, genes that have been clearly associated with the development of these diseases, secondary genes, which have been sporadically associated with them, as well as candidate genes gathered from a systematic review of the literature.
The deposition of amyloid is common on the cardiac level, and it may be the first manifestation of the disease. The presentation is usually left ventricular hypertrophy, therefore patients may be initially diagnosed as suffering from hypertrophic cardiomyopathy.
The deposition of amyloid is common on the cardiac level, and it may be the first manifestation of the disease. The presentation is usually left ventricular hypertrophy, therefore patients may be initially diagnosed as suffering from hypertrophic cardiomyopathy. There is a familial amyloid cardiomyopathy (autosomal dominant inheritance pattern) caused by mutations in the transthyretin gene (TTR). Over 100 mutations associated with different phenotypes, including neuropathic, cardiac, renal and ocular forms, have been described in this gene. The prevalence of this disease is unknown.
TTR gene sequencing is recommended for individuals with a clear or suspected TTR familial amyloidosis.
They include both the primary sarcomeric genes and all phenocopies of the disease, as well as secondary and candidate genes gathered from a systematic literature review.
The deposition of amyloid is common on the cardiac level, and it may be the first manifestation of the disease. The presentation is usually left ventricular hypertrophy, therefore patients may be initially diagnosed as suffering from hypertrophic cardiomyopathy. There is a familial amyloid cardiomyopathy (autosomal dominant inheritance pattern) caused by mutations in the transthyretin gene (TTR), that is included in both our Hypertrophic cardiomyopathy panels 18/118 genes].
It includes 204 genes covering the whole presentation spectrum of cardiomyopathies (hypertrophic, dilated, restrictive, and non-compaction), also including RASopathies, storage diseases (including hereditary TTR amyloidosis), and congenital heart diseases.
It includes priority genes, genes that have been clearly associated with the development of these diseases, secondary genes, which have been sporadically associated with them, as well as candidate genes gathered from a systematic review of the literature.
The deposition of amyloid is common on the cardiac level, and it may be the first manifestation of the disease. The presentation is usually left ventricular hypertrophy, therefore patients may be initially diagnosed as suffering from hypertrophic cardiomyopathy.
- Patients with clinical diagnosis and positive anatomopathologic study for familial amyloidosis in which transthyretin/prealbumin (TTR) protein has been found responsible.
- Patients under suspicion of familial amyloidosis.
- Familial study: a search for the mutation previously identified in a proband (relatives of patients with familial TTR amyloidosis in which a pathogenic mutation has been previously identified).
- Familial Transthyretin Amyloidosis. Yoshiki Sekijima, Kunihiro Yoshida, Takahiko Tokuda and Shu-ichi Ikeda. GeneReviews. 2012 January 26.
In case a clear diagnosis of familial TTR amyloidosis exists, the genetic study allows identifying the causal mutation in over 99% of cases. The great majority of them are point mutations, with no deletion/duplication-type structural variants having been described in this gene.
