Prophylactic pacemaker implantation in familial amyloid polyneuropathy

Algalarrondo, Vincent; Dinanian, S.; Juin, Christophe; Chemla, Denis; Bennani, Soumiya; Sébag, C; Planté, Violaine; Guludec, Dominique Le; Samuel, Didier; Adams, David; Slama, Michel

doi:10.1016/j.hrthm.2012.02.033

Cited by 82 publications

(45 citation statements)

References 21 publications

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“…The MNT rate of decline, with a yearly decline up to 40 times faster in Val107 FAP, was far higher in non‐Portuguese than in PortMet30 patients. This was mostly due to repercussions of motor impairment on gait but also to the consequences of cardiomyopathy in non‐Portuguese patients 26. Gait impairment and the need for walking assistance occurred earlier in non‐Portuguese patients than in our PortMet30 patients and in previously reported PortMet30 patients 9.…”

Section: Discussionmentioning

confidence: 43%

“…Prophylactic cardiac pacing at inclusion or during follow‐up performed on the basis of the surface electrocardiogram (ECG) and the electrophysiological study, as previously described 26. The following parameters were taken into account: PR interval, QRS duration and morphology, the His to ventricle duration (HV interval), and the anterograde Wenckebach point.…”

Section: Methodsmentioning

confidence: 99%

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Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Mariani¹,

Lozeron

Théaudin

et al. 2015

Annals of Neurology

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146

102

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ObjectiveTo compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP.MethodsWe compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French National FAP Reference Center from 1988 to 2010. Clinical examination, functional and walking disability scores, nerve conduction studies, and muscle biopsies are reported. We also conducted a comprehensive literature review to further determine the range of phenotypic expression.ResultsBy comparison with Portuguese Val30Met FAP, French Ile107Val, Ser77Tyr, and LateVal30Met FAP showed more rapid and severe disease progression; onset of gait disorders was 3 times more rapid (p < 0.0001) and the rate of modified Norris test decline was up to 40 times faster in Ile107Val patients (p < 0.0001). Median survival was much shorter in Ile107Val and in Val30Met mutation with late onset (>50 years; LateMet30) FAP (p = 0.0005). Other distinctive features relative to the Portuguese patients included atypical clinical presentations, demyelination on nerve conduction studies (p = 0.0005), and difficult identification of amyloid deposits in nerve and muscle biopsies.InterpretationIle107Val and LateMet30 mutations are associated with the most debilitating and severe FAP ever described, with rapid onset of tetraparesis and shorter median survival. It could be explained by frequent large‐fiber involvement and associated demyelination and more severe axonal loss. These findings have major implications for genetic counseling and patient management as new therapeutic options are being assessed in clinical trials (TTR gene silencing). Ann Neurol 2015;78:901–916

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Section: Discussionmentioning

confidence: 43%

Section: Methodsmentioning

confidence: 99%

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Mariani¹,

Lozeron

Théaudin

et al. 2015

Annals of Neurology

Self Cite

146

102

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“…The majority of arrhythmias necessitating PPM are high-degree conduction block, symptomatic bra-dycardia, and atrial fibrillation with slow ventricular responses. In a large series of patients with FAP V30M with conduction disturbances who underwent electrophysiology studies, prophylactic PPMs were implanted for HIS-ventricular (HV) interval ≥70 ms, >55 ms associated with fascicular block, first-degree atrioventricular block (AVB), or Wenckebach anterograde point ≤100 bpm [42]. Patients who did not receive a PPM were typically younger and had less severe cardiac involvement than those who received a PPM for a class I/IIa indications or prophylactically.…”

Section: Considerations For Pacemaker and Cardioverter–defibrillator mentioning

confidence: 99%

Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs

et al. 2014

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Transthyretin-cardiac amyloidoses (ATTR-CA) are an underdiagnosed but increasingly recognized cause of heart failure. Extracellular deposition of fibrillary proteins into tissues due to a variety of inherited transthyretin mutations in ATTRm or due to advanced age in ATTRwt eventually leads to organ failure. In the heart, amyloid deposition causes diastolic dysfunction, restrictive cardio-myopathy with progressive loss of systolic function, arrhythmias, and heart failure. While traditional treatments have consisted of conventional heart failure management and supportive care for systemic symptoms, numerous disease-modifying therapies have emerged over the past decade. From organ transplantation to transthyretin stabilizers (diflunisal, tafamidis, AG-1), TTR silencers (ALN-ATTR02, ISIS-TTR(Rx)), and degraders of amyloid fibrils (doxycycline/TUDCA), the potential for effective transthyretin amyloid therapy is greater now than ever before. In light of these multiple agents under investigation in human clinical trials, clinicians should be familiar with the systemic cardiac amyloidoses, their differing pathophysiology, natural histories, and unique treatment strategies.

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“…Prophylactic pacemaker implantation is a major issue and indicated in about 30% of patients FAP patients at the stage of clinically diagnosed neuropathy, when they are considered for LT or medical treatment. In a selection of 100 patients with TTR-FAP and abnormal electrophysiological study, prophylactic pacing prevented major cardiac events in 25% of the patients over a 45-month mean follow-up [57].…”

Section: Amyloid Cardiomyopathy Managementmentioning

confidence: 99%

Current and future treatment of amyloid neuropathies

Adams¹,

Cauquil²,

Théaudin³

et al. 2014

Expert Review of Neurotherapeutics

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Amyloid neuropathies of acquired or genetic origin are disabling and life-threatening, until recently there were few treatment options available. Poor prognosis is related to progressive neuropathy and associated, although often underdiagnosed, cardiac involvement in specific transthyretin (TTR) gene mutations. Recent progress has modified prognosis and management of amyloid neuropathies. In TTR-familial amyloidosis with polyneuropathy, major changes have occurred over the last 30 years: better knowledge concerning genetics, phenotypes and epidemiology, and the advent of possible treatments. Liver transplantation, first performed in 1990, stopped disease progression, thus doubling survival in early onset V30M patients. More recently tetramer stabilizers (Tafamidis and Diflunisal) showed a significant reduction of progression of neuropathic scores; Tafamidis is now recommended in Stage I patients. Two multicentric clinical trials are now ongoing to evaluate TTR gene silencing by antisense Oligonucleotides (ASO) or siRNA. In the near future we should have new therapeutical options for patients with amyloid neuropathy.

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Prophylactic pacemaker implantation in familial amyloid polyneuropathy

Cited by 82 publications

References 21 publications

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs

Current and future treatment of amyloid neuropathies

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