The genetics of cardiac amyloidosis

Arno, Scott; Cowger, Jennifer

doi:10.1007/s10741-021-10164-z

Cited by 10 publications

(5 citation statements)

References 77 publications

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“…The penetrance of the Val122Ile mutation is unknown. The Val122Ile subtype has a predominantly cardiac phenotype, but if other manifestations are present, it is most commonly carpal tunnel syndrome and spinal stenosis [ 8 , 14 , 15 ]. Leu111Met (Leucine to Methionine at position 11) and Ile68Leu (Isoleucine to Leucine at position 68) are endemic to Denmark and Italy.…”

Section: Discussionmentioning

confidence: 99%

Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female

Mouksian

Ammon

Pullen

et al. 2023

JCDD

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Background: Transthyretin cardiac amyloidosis (ATTR) is a life-threatening, debilitating disease caused by abnormal formation and deposit of transthyretin (TTR) protein in multiple tissues, including myocardial extracellular matrix. It can be challenging to diagnose due to the myriad of presenting signs and symptoms. Additionally, numerous TTR mutations exist in certain ethnicities. Interestingly, our patient was discovered to have a very rare Gly67Ala TTR mutation typically not found in individuals of Asian descent. Recent advances in cardiovascular imaging techniques have allowed for earlier recognition and, therefore, management of this disease. Although incurable, there are now new, emerging treatments that are available for symptom control of cardiac amyloidosis, making early diagnosis vital for these patients, specifically their quality of life. Case summary: We outline a case of a 50-year-old Asian female who was initially hospitalized for nausea and vomiting and persistent orthostatic hypotension. She underwent a multitude of laboratory and imaging tests, resulting in a diagnosis of cardiac amyloidosis, which was confirmed to be due to a rare TTR mutation via genetic testing. Conclusions: Our objective is to describe various TTR mutations, existing diagnostic imaging modalities, and available treatments, as well as highlight the importance of early screening and awareness of cardiac amyloidosis, allowing for quicker diagnosis and treatment of this disease.

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Section: Discussionmentioning

confidence: 99%

Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female

Mouksian

Ammon

Pullen

et al. 2023

JCDD

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“…Most mutations causing ATTRv amyloidosis are gain of function mutations with autosomal dominant inheritance. However, penetrance and expressivity are highly variable among the diverse variants, even within the same family [51][52][53].…”

Section: Genetic Attr-cmmentioning

confidence: 99%

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

Brito,

Albrecht,

de Arenaza

et al. 2023

Global Heart

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Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive and fatal condition that requires early diagnosis, management, and specific treatment. The availability of new disease-modifying therapies has made successful treatment a reality. Transthyretin amyloid cardiomyopathy can be either age-related (wild-type form) or caused by mutations in the TTR gene (genetic, hereditary forms). It is a systemic disease, and while the genetic forms may exhibit a variety of symptoms, a predominant cardiac phenotype is often present. This document aims to provide an overview of ATTR-CM amyloidosis focusing on cardiac involvement, which is the most critical factor for prognosis. It will discuss the available tools for early diagnosis and patient management, given that specific treatments are more effective in the early stages of the disease, and will highlight the importance of a multidisciplinary approach and of specialized amyloidosis centres.To accomplish these goals, the World Heart Federation assembled a panel of 18 expert clinicians specialized in TTR amyloidosis from 13 countries, along with a representative from the Amyloidosis Alliance, a patient advocacy group. This document is based on a review of published literature, expert opinions, registries data, patients' perspectives, treatment options, and ongoing developments, as well as the progress made possible via the existence of centres of excellence.From the patients' perspective, increasing disease awareness is crucial to achieving an early and accurate diagnosis. Patients also seek to receive care at specialized amyloidosis centres and be fully informed about their treatment and prognosis.

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“…Hereditary transthyretin (TTR) amyloidosis (ATTRv), caused by a mutation in the TTR gene on chromosome 18, is a rare and fatal disease. Over 200-point mutations have been found worldwide [ 1 ], and in Swedish patients, the V30M mutation, is the most common one [ 2–3 ]. High prevalence is seen in both Sweden and Portugal, but differences in penetrance, age of onset and clinical manifestations of ATTRv are noted between endemic areas [ 4–6 ].…”

Section: Introductionmentioning

confidence: 99%

Enlarged cross-sectional area in peripheral nerves in Swedish patients with hereditary V30M transthyretin amyloidosis

Arvidsson,

Eriksson,

Anan

et al. 2023

Annals of Medicine

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Introduction In hereditary transthyretin amyloidosis (ATTRv), two different fibrillar forms causing the amyloid deposition, have been identified, displaying substantially cardiac or neuropathic symptoms. Neuropathic symptoms are more frequent in early-onset patients, whereas late-onset patients, besides cardiac symptoms, seem to develop carpal tunnel syndrome, more often. With ultrasonography (US) of peripheral nerves, it is possible to distinguish structural changes, and enlarged cross-sectional area (CSA). The main purpose of this study was, for the first time, to elucidate US of peripheral nerves in Swedish ATTRv patients at an early stage of the disease, and to evaluate possible early enlarged CSA. Material and methods This prospective study included first visit data of 13 patients, aged 30–88 years, of which 11 with late-onset age. All had a positive V30M mutation. Eight men and six women (aged 28–74 years) served as controls. Results Significantly enlarged CSA was seen in ATTRv patients for the tibial nerve at the ankle ( p = .001), the sural nerve ( p < .001), the peroneal nerve at the popliteal fossa ( p = .003), and the ulnar nerve at the middle upper arm ( p = .007). Conclusion US of peripheral nerves could be a valuable tool in disease evaluation and could facilitate monitoring of disease progression.

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The genetics of cardiac amyloidosis

Cited by 10 publications

References 77 publications

Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female

Cardiac Amyloidosis: A Rare TTR Mutation Found in an Asian Female

World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)

Enlarged cross-sectional area in peripheral nerves in Swedish patients with hereditary V30M transthyretin amyloidosis

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