3 research outputs found
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
- Author
- Achleitner MT
- Ahimaz P
- Alston CL
- Amiel J
- Bajolle F
- Brett L
- Cameron J
- Chatterjee D
- Chung WK
- De Bellaing AM
- De Pontual L
- Dimartino C
- Doudney K
- Dunn KE
- Edwards M
- Ellaway CJ
- Elserafy NA
- Faye-Petersen OM
- Fisk DG
- French P
- George PM
- Girisha KM
- Gordon CT
- Grove ME
- Guimier A
- Hamilton RM
- Homfray T
- Hurst ACE
- Janin A
- Kana SL
- Kanthi A
- Kennedy HL
- Kidd A
- Knowles CV
- Koopmann TT
- Lichkus KS
- Ma AS
- Mayr JA
- McFarland R
- McGowan R
- McLeod K
- Merker JD
- Mittal K
- Morris-Rosendahl DJ
- Parikh S
- Phillips LK
- Rafiq MA
- Sankaran BP
- Shukla A
- Spentzou G
- Taylor RW
- Thompson ML
- Thorburn DR
- Till JA
- Turner C
- Turner CLS
- Tysoe CJ
- Van den Broek F
- Weintraub RG
- Wortmann SB
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants. Methods Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized. Results Among the 34 individuals, only 6 remain alive. Twenty-three died before the age of 2 years while five died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity. Conclusion We expand the clinical and mutational spectrum associated with PPA2 dysfunction. Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. Alcohol intake can trigger cardiac arrest and should be strictly avoided
Biomedical membranes from hydrogels and interpolymer complexes
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- A Galli
- A Gutowska
- A Katchalsky
- A Katchalsky
- A Katchalsky
- AD Antipina
- AM Lichkus
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- AR Khare
- AR Khokhlov
- AR Khoklov
- AS Hoffman
- B. Sagrario
- BA Firestone
- BG Kabra
- C Konak
- CT Reinhart
- D Hariharan
- D Nicoli
- DA Tirrell
- DG Peiffer
- DJ Chung
- DJ Hemker
- DJ Hemker
- DM Malone
- E Bekturov
- E Kokufuta
- E Sato
- E Tsuchida
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- G Bokias
- G Liu
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- GV Samsonov
- H Adachi
- H Brenner
- H Daoust
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- H Ohno
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- Khokhlov
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