Transthyretin Glu54Leu – an unknown mutation within the Swedish population associated with amyloid cardiomyopathy and a unique fibril type

Figures & data

Figure 1. Western blot analysis of adipose tissue. All four of the ATTR Glu54Leu amyloidosis patients we have investigated showed a unique western blot pattern of TTR.

Figure 2. Family pedigree. Relationship of the affected individuals in the Swedish Glu54Leu ATTR family. Arabic numerals refer to the case numbers in the text while the roman numerals refer to the level of generation.

Table 1. Summary of symptoms and findings for each patient.

Patient number	Age at disease onset	Duration of symptomatic disease at evaluation (years)	NYHAa class	Heart arrhythmia/conduction disturbances	Polyneuropathy	Abnormal HRV^b/Symptoms of Autonomic neuropathy	Carpal tunnel syndrome
1	55	1	II	AF	Yes	Yes	Yes
2	62	4	II	AF	Yes	NI	Yes
3	72	2	II	AF	No	NI	No
4	68	3	I	No	Yes	No	No
5	42	0	I	No	No	No	Yes

AF: atrial fibrillation; NI: not investigated.

^aNew York Heart Association functional classification of heart failure.

^bHeart rate variability.

Table 2. Cardiac biomarkers and echocardiographic findings for each patient.

Patient number	Pro-BNP (ng/l)	Troponin T (ng/l)	IVSD (mm)	LVEDD (mm)	LVER (%)	FS (%)
1	1657	21	23	45	45	42
2	4823	NT	18	40	40	21
3	NI	NI	NI	NI	NI	NI
4	1838	67	17	40	54	43
5	32	10	13	52	60	35

NT: not investigated; IVSD: interventricular septum thickness; LVEDD: left ventricular internal dimensions at end diastole; LVER: Left ventricular ejection rate; FS: echocardiography (Echo)-based linear fractional shortening.

Data availability statement

Public data sharing is not applicable to this article but portions of the data reported may be available through the corresponding author upon request.