Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

Thibaud Damy; Bruno Costes; Albert Hagège; Erwan Donal; Jean‐Christophe Eicher; Michel Slama; Aziz Guellich; Stéphane Rappeneau; Jean-Pierre Gueffet; Damien Logeart; Violaine Planté‐Bordeneuve; Hélène Bouvaist; Olivier Huttin; Geneviève Mulak; Jean‐Luc Dubois‐Randé; M Goossens; Florence Canouï‐Poitrine; Joel N. Buxbaum

doi:10.1093/eurheartj/ehv583

Key Points

The study aims to determine the prevalence of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
Examine patients diagnosed with hypertrophic cardiomyopathy for mutated transthyretin (mTTR-FAC)
Focus on elderly individuals of African descent with increased left ventricular wall thickness and specific symptoms
5% of patients with hypertrophic cardiomyopathy were found to have mTTR-FAC
Histories of neuropathy, carpal tunnel syndrome, low voltage ECG, or late gadolinium enhancement (LGE) were indicative of hereditary conditions

Structured PICO

P

Population

Patients diagnosed with hypertrophic cardiomyopathy or increased left ventricular wall thickness

O

Outcome

Prevalence of hereditary transthyretin amyloid cardiomyopathy (mTTR-FAC)

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Implication

Genetic screening for mutated transthyretin is warranted in elderly patients with increased left ventricular wall thickness, as 5% of patients diagnosed with hypertrophic cardiomyopathy actually have mTTR-FAC.

Abstract

Five per cent of patients diagnosed with hypertrophic cardiomyopathy have mTTR-FAC. Mutated transthyretin genetic screening is warranted in elderly subjects with increased LVWT, particularly, those of African descent with neuropathy, carpal tunnel syndrome, ECG low voltage, or LGE.

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Cite This Study

Damy et al. (2015) studied this question.

synapsesocial.com/papers/69d8e75ca5ecc596b5d18b3e https://doi.org/10.1093/eurheartj/ehv583

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Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

Key Points

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

Key Points

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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