Clinical profile of patients with cardiac amyloidosis in India

Mohan, Bishav; Singh, Suvir; Tandon, Rohit; Batta, Akash; Singal, Gautam; Singh, Gurbhej; Singh, Bhupinder; Goyal, Abhishek; Chhabra, Shibba Takkar; Naved, Khizar; Jain, Aayush; Wander, Gurpreet Singh

doi:10.1016/j.ihj.2022.12.006

Cited by 3 publications

(4 citation statements)

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“…In UKB, Val122Ile was identified in unrelated participants of AFR, AMR, CSA, EUR, and MID descent. While Val122Ile mutation has been previously reported in Hispanic and Latino America populations [ 35 ], very limited information is available regarding hATTR in CSA and MID individuals [ 36 , 37 ]. In line with the known causal role of Val122Ile in cardiac amyloidosis [ 38 ], we observed an overrepresentation of Val122Ile associations with circulatory phecodes in AFR.…”

Section: Discussionmentioning

confidence: 99%

“…Cutaneous manifestations of hATTR have been previously reported [ 58 ] and skin biopsies have been previously proposed as a potential biomarker of disease severity in affected patients [ 59 ]. As mentioned above, very limited information is available regarding the presentation of TTR mutations in CSA populations [ 37 ]. Our findings suggest that His90Asn is associated with dermatologic presentations in CSA.…”

Section: Discussionmentioning

confidence: 99%

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Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins

De Lillo,

Pathak,

Low

et al. 2024

Hum Genomics

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Purpose Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide populations. Methods We compared 676 diverse individuals carrying TTR amyloidogenic mutations (rs138065384, Phe44Leu; rs730881165, Ala81Thr; rs121918074, His90Asn; rs76992529, Val122Ile) to 12,430 non-carriers matched by age, sex, and genetically-inferred ancestry to assess their clinical presentations across 1,693 outcomes derived from electronic health records in UK biobank. Results In individuals of African descent (AFR), Val122Ile mutation was linked to multiple outcomes related to the circulatory system (fold-enrichment = 2.96, p = 0.002) with the strongest associations being cardiac congenital anomalies (phecode 747.1, p = 0.003), endocarditis (phecode 420.3, p = 0.006), and cardiomyopathy (phecode 425, p = 0.007). In individuals of Central-South Asian descent (CSA), His90Asn mutation was associated with dermatologic outcomes (fold-enrichment = 28, p = 0.001). The same TTR mutation was linked to neoplasms in European-descent individuals (EUR, fold-enrichment = 3.09, p = 0.003). In EUR, Ala81Thr showed multiple associations with respiratory outcomes related (fold-enrichment = 3.61, p = 0.002), but the strongest association was with atrioventricular block (phecode 426.2, p = 2.81 × 10− 4). Additionally, the same mutation in East Asians (EAS) showed associations with endocrine-metabolic traits (fold-enrichment = 4.47, p = 0.003). In the cross-ancestry meta-analysis, Val122Ile mutation was associated with peripheral nerve disorders (phecode 351, p = 0.004) in addition to cardiac congenital anomalies (fold-enrichment = 6.94, p = 0.003). Conclusions Overall, these findings highlight that TTR amyloidogenic mutations present ancestry-specific and ancestry-convergent associations related to a range of health domains. This supports the need to increase awareness regarding the range of outcomes associated with TTR mutations across worldwide populations to reduce misdiagnosis and delayed diagnosis of TTR-related amyloidosis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins

De Lillo,

Pathak,

Low

et al. 2024

Hum Genomics

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“…Abnormal nulling patterns are types 2, 3, or 4, associated with a higher risk of CA (Table 1) [7]. In addition to MRI, especially in the developing and resource constraint setting, speckle tracking echocardiography and estimation of global longitudinal strain (GLS) can be beneficial in identifying CA [8]. Left ventricular longitudinal strain detected by two-dimensional speckle tracking echocardiography can point to myocardial function alterations at the early stages of the disease.…”

Section: Discussionmentioning

confidence: 99%

Multimodality Imaging for Diagnosing Transthyretin Cardiac Amyloidosis

Manzil¹,

Pandey²

2023

Cureus

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Amyloidosis is the result of the extracellular deposition of amyloid in various organs. Common types are light-chain and transthyretin amyloidosis. Cardiac amyloidosis (CA) is a restrictive cardiomyopathy caused by amyloid infiltration in cardiac tissues. The detection of CA is increasing with the advent of easily accessible imaging modalities. Early diagnosis ensures a better prognosis. We present a case of cardiac amyloidosis, diagnosed from specific imaging findings on cardiac magnetic resonance imaging and more precisely as transthyretin type based on findings on nuclear scintigraphy.

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“…It is associated with significant morbidity and mortality [ 1 , 2 ]. In a recent study performed by Mohan et al, the mean survival after the diagnosis of cardiac amyloidosis was 15 months, and the delayed diagnosis seems to be the major responsible factor for that [ 3 ]. Amyloidosis represents a group of systemic diseases that are characterized by organ deposition of misfolded protein fragments of several origins [ 2 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

Case Report and Literature Review of Cardiac Amyloidosis: A Not-So-Rare Cause of Heart Failure

Baptista¹,

Azevedo²,

Alexandre³

et al. 2023

Cureus

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Restrictive cardiomyopathy secondary to cardiac amyloidosis is an underdiagnosed cause of heart failure and it is associated with significant morbidity and mortality. The most common types of amyloidosis are light chain amyloidosis, transthyretin amyloidosis and secondary amyloidosis. We report the case of a 84year-old man that presented with new onset signs and symptoms of heart failure. Multimodality imaging with echocardiogram and bone tracer cardiac scintigraphy along with biomarkers, monoclonal proteins analysis and genetic test allowed to diagnosed a wild-type transthyretin amyloidosis. We discuss the clinical and diagnostic features and review the current literature about cardiac amyloidosis. This paper aims to increase clinicians' awareness of cardiac amyloidosis to promptly recognize, diagnose and treat it.

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Clinical profile of patients with cardiac amyloidosis in India

Cited by 3 publications

References 14 publications

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins

Multimodality Imaging for Diagnosing Transthyretin Cardiac Amyloidosis

Case Report and Literature Review of Cardiac Amyloidosis: A Not-So-Rare Cause of Heart Failure

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