Fatal adult-onset diaphragmatic hernia in the context of the COVID-19 pandemic

Antony, Ajith; Suares, Sheryl; Fernandes, André Victor

doi:10.4322/acr.2021.366

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Sumário

Autopsy Case Report and Review • Autops. Case Rep. 12 • 2022 • https://doi.org/10.4322/acr.2021.366 copy

Fatal adult-onset diaphragmatic hernia in the context of the COVID-19 pandemic

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Late-presenting or “Adult-Onset” Diaphragmatic Hernia is uncommon, especially in individuals with no history of trauma. The non-traumatic diaphragmatic hernia may be a Congenital Diaphragmatic Hernia [CDH] lately manifested as a sequela to an iatrogenic intervention or prolonged infections. We aim to explore the genetic correlations in “adult-onset” CDH, with an insight into the indirect contribution of the COVID-19 pandemic towards the fatal outcome.In this report, we present a case of an adult female who died from the complications of an undiagnosed adult-onset diaphragmatic hernia, deemed completely preventable, if not for the global COVID-19 pandemic. There was no prior history of physical trauma or medical history of any relevance.Early diagnosis and rapid surgical intervention remain the keystone management for successfully treating individuals affected by this entity. The decedent in question presented with symptoms demanding hospital stay for investigations that would have aided in timely diagnosis and prevented death. However, the excessive fear of COVID-19 prevented the patient from undergoing hospitalization and follow-up, delaying the diagnosis and leading to death.

Keywords
Hernias; Diaphragmatic; Congenital; COVID-19; Genetics; case report

Gene[s]	Syndrome	Predilection
MYRF	Cardiac-urogenital syndrome	High
NR2F2	Congenital heart defects, multiple types, 4	Moderate
ZFPM2	Diaphragmatic hernia type 3	Moderate
ARID1A	Coffin-Siris syndrome	Low
ARID1B
SMARCA4
SMARCB1
SMARCE1
SOX11
CHD7	CHARGE syndrome	Low
COL3A1	Vascular Ehlers-Danlos syndrome	Low
FBN1	Marfan syndrome	Low
FGFR2	Apert syndrome	Low
GATA4	Congenital diaphragmatic hernia & heart defects	Low
GATA6	Heart defects, other congenital anomalies	Low
POGZ	White-Sutton syndrome	Low
WT1	Denys-Drash syndrome	Low
WT1	Meacham syndrome
KMT2D	Kabuki syndrome	Low
NIPBL	Cornelia de Lange syndrome	Low
RAD21
SMC3
Imprinting defect at 11p15.5	Beckwith-Wiedemann syndrome	Low
CDKN1C	Beckwith-Wiedemann syndrome

Gene[s]	Syndrome	Predilection
LRP2	Donnai-Barrow syndrome	High
LTBP4	LTBP4-related cutis laxa	High
RARB	Microphthalmia, syndromic	High
STRA6	Microphthalmia, syndromic
PIGN	PIGN-related Fryns syndrome 3	High
Unknown	Fryns syndrome	High
SLC2A10	Arterial tortuosity syndrome	Moderate
DLL3	Spondylocostal dysostosis	Low
HES7
LFNG
MESP2
RIPPLY2
TBX6
FRAS1	Fraser syndrome	Low
FREM2	Fraser syndrome

Gene[s]	Syndrome	Predilection
RLIM	Tonne-Kalscheuer syndrome	High
Unknown	Pentalogy of Cantrell	High
COX7B	Microphthalmia with linear skin defects syndrome	Moderate
HCCS
NDUFB11
Unknown	Thoracoabdominal syndrome^#	Moderate
EFNB1	Craniofrontonasal syndrome	Low
PORCN	Focal dermal hypoplasia	Low
GPC3	Simpson-Golabi-Behmel syndrome type 1	Low
KDM6A	Kabuki syndrome	Low
HDAC8	Cornelia de Lange syndrome	Low
SMC1A	Cornelia de Lange syndrome

Chromosome / Locus	Syndrome	Predilection
mosaic tetrasomy 12p	Pallister-Killian syndrome	Moderate
Del 1q41-q42	1q41q42 microdeletion syndrome	Moderate
Del 4p16.3	Wolf-Hirschhorn syndrome	Moderate
Del 8p23.1	8p23.1 microdeletion syndrome	Moderate
Del 15q24	15q24 Microdeletion syndrome	Moderate
Del 15q26.2	Drayer's syndrome/ recurrent deletion of chromosome 15[q26.2→qter]	Moderate
Del 17q12	Chromosome 17q12 deletion syndrome	Moderate
Del 8q23.1	Langer-Giedion syndrome [LGS]	Low
Del 22q11	DiGeorge syndrome	Low
+der [22] t[11;22][q23;q11]	Emanuel syndrome/ Supernumerary der[22]t[11;22] syndrome	Low
Trisomy 13	Patau’s Syndrome	Low
Trisomy 18	Edward’s Syndrome	Low
Trisomy 21	Down’s Syndrome [Morgagni hernias > Bochdalek hernias]	Low
Trisomy 22	Mosaic Trisomy/ Non-Mosaic Trisomy 22/ Velocardiofacial syndrome	Low

Hospital Universitário da Universidade de São Paulo Hospital Universitário da Universidade de São Paulo, Av. Prof. Lineu Prestes, 2565 - Cidade Universitária, 05508-000 - São Paulo - SP - Brasil, (16) 3307-2068, (16) 3307-2068 - São Paulo - SP - Brazil
E-mail: autopsy.hu@gmail.com

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[1] Authors’ contributions: Ajith Antony contributed to the intellectual content, conception, design of the study, and manuscript writing. Sheryl Suares contributed to the intellectual content, conception and design of the study, manuscript editing. André Victor Fernandes contributed to the intellectual content, conception and design of the study, manuscript editing and final approval.