Acessibilidade / Reportar erro

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

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

INTRODUCTION

Diaphragmatic hernias can be congenital, occurring in about one out of every 3600 live births in the United States,11 Mai CT, Isenburg JL, Canfield MA, et al. National population-based estimates for major birth defects, 2010-2014. Birth Defects Res. 2019;111(18):1420-35. http://dx.doi.org/10.1002/bdr2.1589. PMid:31580536.
http://dx.doi.org/10.1002/bdr2.1589...
,22 Dott MM, Wong L-YC, Rasmussen SA. Population-based study of congenital diaphragmatic hernia: risk factors and survival in metropolitan Atlanta, 1968–1999. Birth Defects Res A Clin Mol Teratol. 2003;67(4):261-7. http://dx.doi.org/10.1002/bdra.10039. PMid:12854661.
http://dx.doi.org/10.1002/bdra.10039...
or acquired. A non-traumatic etiology causing an “adult-onset” diaphragmatic hernia can be due to a delayed presentation of a congenital diaphragmatic hernia [CDH], or as a consequence of iatrogenic procedures, especially surgical interventions, or as delayed sequelae to prolonged infection. Out of the CDHs presenting in the adult age group, most are associated with trauma.33 Yang GPC, Tang CN, Siu WT, Ha JPY, Tai YP, Li MK. Diaphragmatic hernia: an uncommon cause of dyspepsia. JSLS. 2005;9(3):352-5. PMid:16121887.

In adults, sudden death consequent to an undiagnosed CDH is rare.44 DeAlwis K, Mitsunaga EM. Sudden death due to nontraumatic diaphragmatic hernia in an adult. Am J Forensic Med Pathol. 2009;30(4):366-8. http://dx.doi.org/10.1097/PAF.0b013e318187e013. PMid:19901820.
http://dx.doi.org/10.1097/PAF.0b013e3181...
,55 Ekanayake E, Fernando S, Durairajah P, Jayasundara J. Incarcerated Bochdalek hernia causing bowel obstruction in an adult male patient. Ann R Coll Surg Engl. 2017;99(6):e159-61. http://dx.doi.org/10.1308/rcsann.2017.0065. PMid:28660829.
http://dx.doi.org/10.1308/rcsann.2017.00...
Early diagnosis and prompt surgical intervention remain the key to efficient management in such cases. However, owing to the non-specific nature of symptoms, the subtlety of the clinical signs and the overall rapid onset, a prompt diagnosis by direct suspicion is needed. A delayed diagnosis is usually the culprit behind a fatal outcome.

We report a case of a young female patient who died of non-traumatic, “adult-onset” diaphragmatic hernia, undiagnosed owing to the dynamics of the COVID-19 pandemic, along with a review of genetic predilections that lead to this condition.

CASE REPORT

A 27-year-old female sought the outpatient department of a primary health center complaining of recent-onset abdominal pain, vomiting, and bowel disturbances. She had two similar episodes in the past 3 months, but it subsided without medical intervention. The patient presented with these severe symptoms during the nationwide lockdown imposed by the Central Government after the invocation of section 6, Disaster Management Act. Physical examination and radiological examination of the abdomen was done during the earlier presentation; however, the same proved to be unremarkable. Hence, she was managed conservatively with gastritis as the most likely diagnosis.

Two days later, she presented again with severe epigastric pain followed by eight episodes of vomiting, fever, and breathlessness. Routine blood tests and ECG were normal. Along with the regular workup for evaluating the fever, gastrointestinal complaints and breathlessness, the prevalent pandemic conditions alerted the resident doctor at the primary health center to order a COVID-19 test. Swabs for COVID-19 tests were taken, and reports were awaited. Doctors with a basic medical degree usually oversee the Primary Healthcare Centers (PHCs) in India, referring cases needing detailed workup to a Tertiary Healthcare Center. The PHCs usually lack facilities like laboratories and radiological equipment. Even though the treating doctor referred her to a tertiary care center and advised admission, she refused to stay in hospital premises, fearing COVID-19 pandemic, and demanded conservative management.

The treating doctor also advised her to undergo a repeat-radiological examination of the chest, abdomen, and pelvis and emphasized isolation. Again, fearing the pandemic and rules of compulsory isolation, the patient refused to acknowledge the referral and took discharge against medical advice. Soon, she became extremely dyspneic and expired at home. Her COVID-19 RT-PCR reports turned out to be negative.

AUTOPSY PRESENTATION

The decedent was autopsied five hours after her death. External examination was unremarkable, with neither injuries nor abnormalities. She had fused earlobes, with relatively small fingers and a short stature [body length=148 cm]. Internal examination revealed a loop of gangrenous small intestine upon opening the ribcage (Figure 1A). Further dissection revealed a defect in the left hemidiaphragm measuring 6 cm in length and 4 cm in breadth. This defect had smooth edges, with the omentum, the gastric fundus and a loop of gangrenous small intestine herniating into the left thoracic cavity (Figure 1B). Both lungs were edematous and congested. No sign of excessive fluid was present in the pleural, pericardial, or peritoneal cavities. Other organs showed congestive and edematous features. The final cause of death was opined as septicemia consequent to gangrene of the strangulated small intestine in a person with adult-onset diaphragmatic hernia.

Figure 1
Gross findings after the thoracoabdominal cavities overture. A – A loop of gangrenous small intestine seen upon opening the ribcage (black arrowhead); B – Left hemidiaphragm showing a defect with smooth edges, through which the omentum, the gastric fundus and a loop of gangrenous small intestine (white arrowhead) are seen herniating into the left thoracic cavity.

Although her external appearance with a non-traumatic etiology of diaphragmatic hernia warranted a genetic evaluation, neither the institution nor the medico-legal system had the necessary provisions to carry out a genetic study. The family was advised to do the same in a private set up to rule out any inheritable genetic diseases. The family refused to do the test, citing financial constraints.

DISCUSSION

Diaphragmatic hernia refers to a defect in the diaphragm that allows the abdominal contents to migrate into the thoracic cavity. Such defects are common after sustaining blunt or penetrating trauma to the chest and abdomen,66 Goh BKP, Wong ASY, Tay K-H, Hoe MNY. Delayed presentation of a patient with a ruptured diaphragm complicated by gastric incarceration and perforation after apparently minor blunt trauma. CJEM. 2004;6(4):277-80. http://dx.doi.org/10.1017/S148180350000926X. PMid:17382006.
http://dx.doi.org/10.1017/S1481803500009...
,77 Bairagi A, Moodley SR, Hardcastle TC, Muckart DJ. Blunt rupture of the right hemidiaphragm with herniation of the right colon and right lobe of the liver. J Emerg Trauma Shock. 2010;3(1):70-2. http://dx.doi.org/10.4103/0974-2700.58659. PMid:20165725.
http://dx.doi.org/10.4103/0974-2700.5865...
especially following high-velocity impact in road traffic accidents.88 Janardhanan J, Tarvadi PV, Manipady S, Shetty M, Somashekar C. Traumatic displacement of stomach – A case report. J Forensic Leg Med. 2014;21:53-5. http://dx.doi.org/10.1016/j.jflm.2013.10.007. PMid:24365690.
http://dx.doi.org/10.1016/j.jflm.2013.10...
Left postero-lateral herniation is more common, owing to the inherent weakness of the embryonic fusion lines of the pleuroperitoneal membrane on the left side and a mechanical barrier formed by the liver on the right side.77 Bairagi A, Moodley SR, Hardcastle TC, Muckart DJ. Blunt rupture of the right hemidiaphragm with herniation of the right colon and right lobe of the liver. J Emerg Trauma Shock. 2010;3(1):70-2. http://dx.doi.org/10.4103/0974-2700.58659. PMid:20165725.
http://dx.doi.org/10.4103/0974-2700.5865...
In the present case, there were no visible signs of trauma, or a suggestive history.

In the absence of trauma, a diaphragmatic hernia is a rarity in adults, usually preceded by a weakening esophageal hiatus leading to hiatal hernias. Even more unusual is when a CDH manifests in adulthood in non-traumatic conditions. CDH occurs consequent to incomplete fusion of pleuroperitoneal folds during the first trimester of gestation,99 Salaçin S, Alper B, Çekin N, Gülmen MK. Bochdalek hernia in adulthood: a review and an autopsy case report. J Forensic Sci. 1994;39(4):1112-6. http://dx.doi.org/10.1520/JFS13692J. PMid:8064271.
http://dx.doi.org/10.1520/JFS13692J...
consequent to a plethora of genetic causes, of which about 70% has an unknown etiology.1010 Dworschak GC, Engels H, Becker J, et al. De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia. Front Pediatr. 2018;6:116. http://dx.doi.org/10.3389/fped.2018.00116. PMid:29922638.
http://dx.doi.org/10.3389/fped.2018.0011...
Epidemiological studies1111 Wenstrom KD, Weiner CP, Hanson JW. A five-year statewide experience with congenital diaphragmatic hernia. Am J Obstet Gynecol. 1991;165(4 Pt 1):838-42. http://dx.doi.org/10.1016/0002-9378(91)90425-Q. PMid:1951540.
http://dx.doi.org/10.1016/0002-9378(91)9...
,1212 Langham J Jr, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS. Congenital diaphragmatic hernia: epidemiology and outcome. Clin Perinatol. 1996;23(4):671-88. http://dx.doi.org/10.1016/S0095-5108(18)30201-X. PMid:8982563.
http://dx.doi.org/10.1016/S0095-5108(18)...
on congenital diaphragmatic hernias reported a frequency of 1 in 2500 to 1 in 3715 live births, with about 28% of infants suffering from other congenital anomalies, recording a strong association with Trisomy 18 as well as neural tube defects.

The genetic etiology of CDH could be related to a single gene, with the mode of inheritance being either autosomal dominant (Table 1), autosomal recessive (Table 2) or X-linked (Table 3), or chromosome-related as shown in Table 4.1010 Dworschak GC, Engels H, Becker J, et al. De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia. Front Pediatr. 2018;6:116. http://dx.doi.org/10.3389/fped.2018.00116. PMid:29922638.
http://dx.doi.org/10.3389/fped.2018.0011...
,1313 Aboud MJ, Al-Shamsy MM. Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. Pediatr Surg Int. 2011;27:567-71. http://dx.doi.org/10.1007/S00383-010-2831-Y.
http://dx.doi.org/10.1007/S00383-010-283...

14 Wynn J, Yu L, Chung WK. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014;19(6):324-30. http://dx.doi.org/10.1016/j.siny.2014.09.003. PMid:25447988.
http://dx.doi.org/10.1016/j.siny.2014.09...

15 Longoni M, Pober BR, High FA. Congenital diaphragmatic hernia overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington; 2022. PMID: 20301533.

16 Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic Hernia. Am J Hum Genet. 2007;80(5):825-45. http://dx.doi.org/10.1086/513442. PMid:17436238.
http://dx.doi.org/10.1086/513442...

17 Kantarci S, Casavant D, Prada C, et al. Findings from aCGH in patients with congenital diaphragmatic hernia [CDH]: a possible locus for Fryns Syndrome. Am J Med Genet A. 2006;140(1):17-23. http://dx.doi.org/10.1002/ajmg.a.31025. PMid:16333846.
http://dx.doi.org/10.1002/ajmg.a.31025...

18 Vora N, Bianchi DW. Genetic considerations in the prenatal diagnosis of overgrowth syndromes. Prenat Diagn. 2009;29(10):923-9. http://dx.doi.org/10.1002/pd.2319. PMid:19609940.
http://dx.doi.org/10.1002/pd.2319...

19 Yu L, Bennett JT, Wynn J, et al. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet. 2014;51(3):197-202. http://dx.doi.org/10.1136/jmedgenet-2013-101989. PMid:24385578.
http://dx.doi.org/10.1136/jmedgenet-2013...
-2020 Yu L, Wynn J, Cheung YH, et al. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet. 2012;132(3):285-92. http://dx.doi.org/10.1007/S00439-012-1249-0.
http://dx.doi.org/10.1007/S00439-012-124...
Sometimes, a combination of both may occur in certain syndromic presentations [e.g., Beckwith-Wiedemann syndrome], or the genetic etiology could have an unknown mode of inheritance [e.g., Fryns syndrome, Pentalogy of Cantrell, Thoracoabdominal syndrome].

Table 1
Syndromes associated with CDH with an Autosomal Dominant mode of inheritance
Table 2
Syndromes associated with CDH with an Autosomal Recessive mode of inheritance
Table 3
Syndromes associated with CDH with X-Linked mode of inheritance
Table 4
Syndromes associated with CDH with Chromosomal mode of inheritance

Dubbed as one of the most common syndromes associated with CDH as well as congenital dysplasia of lungs and craniofacial anomalies in infants, Fryns syndrome is reported in up to 10% of cases with a diagnosed CDH.1313 Aboud MJ, Al-Shamsy MM. Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. Pediatr Surg Int. 2011;27:567-71. http://dx.doi.org/10.1007/S00383-010-2831-Y.
http://dx.doi.org/10.1007/S00383-010-283...
Among various overgrowth syndromes, Pallister-Killian syndrome and Simpson-Golabi-Behmel syndrome has shown consistent sonographic imaging that aids in the prenatal diagnosis of congenital diaphragmatic hernia.1818 Vora N, Bianchi DW. Genetic considerations in the prenatal diagnosis of overgrowth syndromes. Prenat Diagn. 2009;29(10):923-9. http://dx.doi.org/10.1002/pd.2319. PMid:19609940.
http://dx.doi.org/10.1002/pd.2319...

In the present case, the presence of fused earlobes and short stature (although individually, neither of them has significant value in direct genetic studies) warranted a syndromic approach to the autopsy, no significant morphological changes pertaining to congenital anomalies were noted other than the diaphragmatic hernia itself.

Morphologically prevalent among the CDHs are “Bochdalek hernias”, where the posterolateral muscles of the diaphragm fail to fuse. If the same occurs in the anterior mediastinum towards the right side, it is known as Foramen of Morgagni hernia (Figure 2). Bochdalek hernias present almost exclusively in the pediatric age group, ranging from newborns to preschoolers, with only 5% occurring in adults.55 Ekanayake E, Fernando S, Durairajah P, Jayasundara J. Incarcerated Bochdalek hernia causing bowel obstruction in an adult male patient. Ann R Coll Surg Engl. 2017;99(6):e159-61. http://dx.doi.org/10.1308/rcsann.2017.0065. PMid:28660829.
http://dx.doi.org/10.1308/rcsann.2017.00...
Despite their popularity, Bochdalek hernias have a low absolute incidence, with reports ranging from 1 out of 2,200 to 1 out of 12,500 live births; however, they are twice as common as Morgagni hernias.2222 Shin MS, Mulligan SA, Baxley WA, Ho K-J. Bochdalek hernia of diaphragm in the adult: diagnosis by computed tomography. Chest. 1987;92(6):1098-101. http://dx.doi.org/10.1378/chest.92.6.1098. PMid:3677819.
http://dx.doi.org/10.1378/chest.92.6.109...
,2323 Gale ME. Bochdalek hernia: prevalence and CT characteristics. Radiology. 1985;156(2):449-52. http://dx.doi.org/10.1148/radiology.156.2.4011909. PMid:4011909.
http://dx.doi.org/10.1148/radiology.156....

Figure 2
Foramina and congenital defects of diaphragm. Source: Haroun.2121 Haroun HSW. Congenital diaphragmatic hernias: a review article. Anatomy Physiol Biochem Int J. 2018;4(2):555635. http://dx.doi.org/10.19080/APBIJ.2018.04.555635.
http://dx.doi.org/10.19080/APBIJ.2018.04...

Males are more affected than females, with herniation occurring through the left hemidiaphragm in 70%–90% of the cases.2424 Anderson WAD, Damjanov I, Linder J. Anderson’s pathology. 10th ed. USA: Mosby; 1996.

Interestingly, a small foramen of Bochdalek may go unnoticed with spontaneous resolution, proving to be virtually harmless, whereas the wider ones could be fatal, as seen in the current case. It is only logical to assume that a small foramen can increase in size later in adult life, consequent to blunt trauma or exertion, which may explain the delayed presentation of a congenital diaphragmatic hernia. We believe was present in this case. Bochdalek hernias may remain dormant throughout childhood, only to be depicted incidentally on routine computed tomography scans.2323 Gale ME. Bochdalek hernia: prevalence and CT characteristics. Radiology. 1985;156(2):449-52. http://dx.doi.org/10.1148/radiology.156.2.4011909. PMid:4011909.
http://dx.doi.org/10.1148/radiology.156....

Studies and relevant literature reveal that the majority of adults with dormant CDHs who become symptomatic were subjected to some form of physical trauma.22 Dott MM, Wong L-YC, Rasmussen SA. Population-based study of congenital diaphragmatic hernia: risk factors and survival in metropolitan Atlanta, 1968–1999. Birth Defects Res A Clin Mol Teratol. 2003;67(4):261-7. http://dx.doi.org/10.1002/bdra.10039. PMid:12854661.
http://dx.doi.org/10.1002/bdra.10039...

3 Yang GPC, Tang CN, Siu WT, Ha JPY, Tai YP, Li MK. Diaphragmatic hernia: an uncommon cause of dyspepsia. JSLS. 2005;9(3):352-5. PMid:16121887.
-44 DeAlwis K, Mitsunaga EM. Sudden death due to nontraumatic diaphragmatic hernia in an adult. Am J Forensic Med Pathol. 2009;30(4):366-8. http://dx.doi.org/10.1097/PAF.0b013e318187e013. PMid:19901820.
http://dx.doi.org/10.1097/PAF.0b013e3181...
,1111 Wenstrom KD, Weiner CP, Hanson JW. A five-year statewide experience with congenital diaphragmatic hernia. Am J Obstet Gynecol. 1991;165(4 Pt 1):838-42. http://dx.doi.org/10.1016/0002-9378(91)90425-Q. PMid:1951540.
http://dx.doi.org/10.1016/0002-9378(91)9...
,1212 Langham J Jr, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS. Congenital diaphragmatic hernia: epidemiology and outcome. Clin Perinatol. 1996;23(4):671-88. http://dx.doi.org/10.1016/S0095-5108(18)30201-X. PMid:8982563.
http://dx.doi.org/10.1016/S0095-5108(18)...
This trauma could be direct or indirect. The incidence of diaphragmatic injury occurs in up to 7% of those who suffer blunt abdominal/thoracic trauma and 3% to 15% for those with penetrating injury.2525 Rosati C. Acute traumatic injury of the diaphragm. Chest Surg Clin N Am. 1998;8(2):371-9. PMid:9619310. This could lead to herniation through an existing defect or the formation of a new defect through which the abdominal contents can move into the chest cavity. Apart from blunt or penetrating trauma, other causes include physical exertion, sexual intercourse, and iatrogenic intervention, especially surgical intervention. It is believed that physical exertion causes a rise in intra-abdominal pressure, which is the underlying mechanism in the majority of hernias. This could range from engaging in physically demanding labor, or something casual like playing a game of tug-of-war.2626 Iiai T, Ohmori K, Ohtaki M, et al. [Adult bochdalek hernia after playing at a tug of war]. Kyobu Geka. 1997;50(11):968-70. Japanese. Although a recent review has shown a poor correlation of diaphragmatic hernia and increased intra-abdominal pressure seen in pregnancy, labor, and delivery,2727 Choi J-Y, Yang S-S, Lee J-H, et al. Maternal bochdalek hernia during pregnancy: a systematic review of case reports. Diagnostics (Basel). 2021;11(7):1261. http://dx.doi.org/10.3390/diagnostics11071261. PMid:34359342.
http://dx.doi.org/10.3390/diagnostics110...
it was always believed they contribute to the non-traumatic incidence of CDH.2828 Browning DJ. Letter: maternal death and diaphragmatic hernia. Med J Aust. 1973;2(6):297. http://dx.doi.org/10.5694/j.1326-5377.1973.tb128850.x. PMid:4744117.
http://dx.doi.org/10.5694/j.1326-5377.19...
,2929 Mullins ME, Stein J, Saini SS, Mueller PR. Prevalence of Incidental Bochdalek’s Hernia in a Large Adult Population. AJR Am J Roentgenol. 2001;177(2):363-6. http://dx.doi.org/10.2214/ajr.177.2.1770363. PMid:11461863.
http://dx.doi.org/10.2214/ajr.177.2.1770...
Even something as trivial as sneezing, coughing or ingestion of a large meal have been reported to cause a diaphragmatic hernia.2929 Mullins ME, Stein J, Saini SS, Mueller PR. Prevalence of Incidental Bochdalek’s Hernia in a Large Adult Population. AJR Am J Roentgenol. 2001;177(2):363-6. http://dx.doi.org/10.2214/ajr.177.2.1770363. PMid:11461863.
http://dx.doi.org/10.2214/ajr.177.2.1770...

Early diagnosis has always remained an issue when it comes to catastrophes consequent to diaphragmatic herniation. However, recent years have seen an increment in the detection and treatment of many asymptomatic Bochdalek’s herniae, possibly due to a higher frequency of abdominal imaging.55 Ekanayake E, Fernando S, Durairajah P, Jayasundara J. Incarcerated Bochdalek hernia causing bowel obstruction in an adult male patient. Ann R Coll Surg Engl. 2017;99(6):e159-61. http://dx.doi.org/10.1308/rcsann.2017.0065. PMid:28660829.
http://dx.doi.org/10.1308/rcsann.2017.00...
A study2929 Mullins ME, Stein J, Saini SS, Mueller PR. Prevalence of Incidental Bochdalek’s Hernia in a Large Adult Population. AJR Am J Roentgenol. 2001;177(2):363-6. http://dx.doi.org/10.2214/ajr.177.2.1770363. PMid:11461863.
http://dx.doi.org/10.2214/ajr.177.2.1770...
reported that among 13,138 abdominal CT scans performed in an institution over one year, 22 asymptomatic incidental Bochdalek hernias were found in adults, translating to roughly 0.17%. Usually, the stomach, large bowel or small bowel and omentum that usually herniates, but there are reports wherein spleen3030 Yamaguchi M, Kuwano H, Hashizume M, Sugio K, Sugimachi K, Hyoudou Y. Thoracoscopic treatment of Bochdalek hernia in the adult: report of a case. Ann Thorac Cardiovasc Surg. 2002;8(2):106-8. PMID: 12027798. or a kidney3131 Navaratnarajah A, Barry V, Charif R. Bochdalek hernias associated with intrathoracic kidney: a case report and systematic review of outcomes including renal function. Clin Nephrol. 2020;8(1):1-11. http://dx.doi.org/10.5414/cncs109962.
http://dx.doi.org/10.5414/cncs109962...
gets dragged into the thoracic cavity. In the present case, we found omentum, along with the gastric fundus and a loop of the gangrenous small intestine in the thoracic cavity.

One of the key differences between the diagnoses of CDH in various age groups lies in its presenting symptoms. Neonatal CDH presents as pulmonary problems due to overcrowding of the thoracic cavity. On the contrary, in older children and adults, gastrointestinal pain or discomfort forms the chief complaint, reflecting the features of obstruction more often than respiratory complications.3232 Banac S, Ahel V, Rozmanić V, Gazdik M, Saina G, Mavrinac B. Congenital diaphragmatic hernia in older children. Acta Med Croatica. 2004;58(3):225-8. PMid:15503687. Nonetheless, Kato et al.3333 Kato H, Aoki Y, Ohtaki J, et al. Sudden death in an adult due to nontraumatic diaphragmatic hernia. Am J Forensic Med Pathol. 2017;38(4):353-5. http://dx.doi.org/10.1097/PAF.0000000000000342. PMid:28901960.
http://dx.doi.org/10.1097/PAF.0000000000...
reported the death of an adult due to collapse of the lung consequent to CDH, who presented with pulmonary symptoms. In the present case, the chief complaints were gastrointestinal, and we see a predominance of gastrointestinal symptoms over respiratory symptoms.

The adults presenting with a diaphragmatic hernia usually have a history of previous traumatic or physically strenuous events. In the present case, we found no evidence of trauma at the time of autopsy. Domestic abuse being common in the lower socioeconomic class, it is possible that an event of blunt trauma that occurred four months back could have caused the herniation. However, the husband denied the occurrence of any violent act upon questioning. Ingestion of a large meal was ruled out since the stomach contained fluid material only. There was no history of any recent pregnancies either.

However, physical exertion as a cause could not be ruled out. An initial episode of gastrointestinal symptoms 3 months back suggests a slow progression of the herniation. Since her occupation is that of a laborer, there are more chances that she was exposed to physical exertion, which is generally overlooked in the lower socio-economic class. It can be safely assumed that this may have been the root cause that precipitated the herniation.

Notwithstanding the etiology or presentation, prompt CT diagnosis could have saved the patient in the present case, assuming there was a rapid surgical intervention without postoperative complications. The fear of the COVID-19 pandemic led the patient to avoid hospital admission or routine investigations for her ailment, which was common during the initial wave of the SARS-CoV-2 infection. Hospitals recorded a major fall [up to 50%] in critical cases.3434 Hafner K. Fear of Covid-19 leads other patients to decline critical treatment. The New York Times; 2020 [cited 2021 Aug 9]. Available from: https://www.nytimes.com/2020/05/25/health/coronavirus-cancer-heart-treatment.html
https://www.nytimes.com/2020/05/25/healt...
,3535 Solomon MD, McNulty EJ, Rana JS, et al. The Covid-19 Pandemic and the Incidence of Acute Myocardial Infarction. N Engl J Med. 2020;383(7):691-3. http://dx.doi.org/10.1056/NEJMc2015630. PMid:32427432.
http://dx.doi.org/10.1056/NEJMc2015630...
The internet is also flooded with misinformation, which has caused an increase in cyberchondria-related anxiety and stress.3636 Jokic-Begic N, Lauri Korajlija A, Mikac U. Cyberchondria in the age of COVID-19. PLoS One. 2020;15(12):e0243704. http://dx.doi.org/10.1371/journal.pone.0243704. PMid:33332400.
http://dx.doi.org/10.1371/journal.pone.0...
Situation in India regarding fear and restrain from seeking medical help was similar.3737 Ghosh A, Nundy S, Mallick TK. How India is dealing with COVID-19 pandemic. Sens Int. 2020;1:100021. http://dx.doi.org/10.1016/j.sintl.2020.100021. PMid:34766039.
http://dx.doi.org/10.1016/j.sintl.2020.1...

38 Roy D, Tripathy S, Kar SK, Sharma N, Verma SK, Kaushal V. Study of knowledge, attitude, anxiety & perceived mental healthcare need in Indian population during COVID-19 pandemic. Asian J Psychiatr. 2020;51:102083. http://dx.doi.org/10.1016/j.ajp.2020.102083. PMid:32283510.
http://dx.doi.org/10.1016/j.ajp.2020.102...
-3939 Varshney M, Parel JT, Raizada N, Sarin SK. Initial psychological impact of COVID-19 and its correlates in Indian Community: an online [FEEL-COVID] survey. PLoS One. 2020;15(5):e0233874. http://dx.doi.org/10.1371/journal.pone.0233874. PMid:32470088.
http://dx.doi.org/10.1371/journal.pone.0...
Such high levels of anxiety and unwarranted fear towards pandemics restrain people from availing healthcare facilities, leading them to death where critical care was a requisite for survival.

CONCLUSION

Most cases of CDH remain asymptomatic and present as incidental findings in routine investigations. As a routine, laparotomy or thoracotomy, or a combination of both, form the basis of diaphragmatic hernia repair. Recent advances in minimally invasive surgery have made laparoscopic repair a more favorable option.33 Yang GPC, Tang CN, Siu WT, Ha JPY, Tai YP, Li MK. Diaphragmatic hernia: an uncommon cause of dyspepsia. JSLS. 2005;9(3):352-5. PMid:16121887.

Despite the lack of advanced genetic or chromosomal tests in our institute, we recommended the deceased’s family undergo further evaluation that may lead to the identification of genetic anomalies, which usually requires locus-specific DNA probes, FISH assay or alternate techniques. Citing financial constraints, they refused to perform the same. Although forensic pathology in developing countries is struggling to keep up pace with modern advances, it is imperative to implement protocols regarding collection of genetic data from all confirmed cases of congenital diaphragmatic hernia to gain clarity into the genetic causes as well as modes of inheritance of severe fetal anomalies such as CDH. Such a move would require legislative measures and funding from the government’s side. Alternatively, the government could commission private labs to analyze and report on the autopsy samples to expedite the otherwise slow process of awaiting the much-desired results.

In the present case, although CDH-associated anomalies didn’t seem to play a major role in death, it is safe to assume that if the excessive fear towards COVID-19 pandemic was eliminated, the female in question would have proceeded with the investigations and, assuming that a diagnosis was established, prompt surgical intervention could have prevented the fatal outcome. On a related note, not only is the government responsible for ensuring proper awareness of lethality pertaining to COVID-19, but also it is essential to curb disproportionate fear of a pandemic. This can be achieved by the dissemination of appropriate information and encouraging the citizens to seek help for any medical conditions that may affect them. An audit across the country for similar incidents focusing on deaths due to treatable medical conditions is also strongly recommended to understand the indirect effects of the pandemic.

  • Study carried out at Goa Medical College under Goa University, India
  • Ethics statement: Ethical approval obtained from Institutional Ethical Committee, Goa Medical College, Bambolim, Goa, India.
  • Financial support: None

REFERENCES

  • 1
    Mai CT, Isenburg JL, Canfield MA, et al. National population-based estimates for major birth defects, 2010-2014. Birth Defects Res. 2019;111(18):1420-35. http://dx.doi.org/10.1002/bdr2.1589 PMid:31580536.
    » http://dx.doi.org/10.1002/bdr2.1589
  • 2
    Dott MM, Wong L-YC, Rasmussen SA. Population-based study of congenital diaphragmatic hernia: risk factors and survival in metropolitan Atlanta, 1968–1999. Birth Defects Res A Clin Mol Teratol. 2003;67(4):261-7. http://dx.doi.org/10.1002/bdra.10039 PMid:12854661.
    » http://dx.doi.org/10.1002/bdra.10039
  • 3
    Yang GPC, Tang CN, Siu WT, Ha JPY, Tai YP, Li MK. Diaphragmatic hernia: an uncommon cause of dyspepsia. JSLS. 2005;9(3):352-5. PMid:16121887.
  • 4
    DeAlwis K, Mitsunaga EM. Sudden death due to nontraumatic diaphragmatic hernia in an adult. Am J Forensic Med Pathol. 2009;30(4):366-8. http://dx.doi.org/10.1097/PAF.0b013e318187e013 PMid:19901820.
    » http://dx.doi.org/10.1097/PAF.0b013e318187e013
  • 5
    Ekanayake E, Fernando S, Durairajah P, Jayasundara J. Incarcerated Bochdalek hernia causing bowel obstruction in an adult male patient. Ann R Coll Surg Engl. 2017;99(6):e159-61. http://dx.doi.org/10.1308/rcsann.2017.0065 PMid:28660829.
    » http://dx.doi.org/10.1308/rcsann.2017.0065
  • 6
    Goh BKP, Wong ASY, Tay K-H, Hoe MNY. Delayed presentation of a patient with a ruptured diaphragm complicated by gastric incarceration and perforation after apparently minor blunt trauma. CJEM. 2004;6(4):277-80. http://dx.doi.org/10.1017/S148180350000926X PMid:17382006.
    » http://dx.doi.org/10.1017/S148180350000926X
  • 7
    Bairagi A, Moodley SR, Hardcastle TC, Muckart DJ. Blunt rupture of the right hemidiaphragm with herniation of the right colon and right lobe of the liver. J Emerg Trauma Shock. 2010;3(1):70-2. http://dx.doi.org/10.4103/0974-2700.58659 PMid:20165725.
    » http://dx.doi.org/10.4103/0974-2700.58659
  • 8
    Janardhanan J, Tarvadi PV, Manipady S, Shetty M, Somashekar C. Traumatic displacement of stomach – A case report. J Forensic Leg Med. 2014;21:53-5. http://dx.doi.org/10.1016/j.jflm.2013.10.007 PMid:24365690.
    » http://dx.doi.org/10.1016/j.jflm.2013.10.007
  • 9
    Salaçin S, Alper B, Çekin N, Gülmen MK. Bochdalek hernia in adulthood: a review and an autopsy case report. J Forensic Sci. 1994;39(4):1112-6. http://dx.doi.org/10.1520/JFS13692J PMid:8064271.
    » http://dx.doi.org/10.1520/JFS13692J
  • 10
    Dworschak GC, Engels H, Becker J, et al. De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia. Front Pediatr. 2018;6:116. http://dx.doi.org/10.3389/fped.2018.00116 PMid:29922638.
    » http://dx.doi.org/10.3389/fped.2018.00116
  • 11
    Wenstrom KD, Weiner CP, Hanson JW. A five-year statewide experience with congenital diaphragmatic hernia. Am J Obstet Gynecol. 1991;165(4 Pt 1):838-42. http://dx.doi.org/10.1016/0002-9378(91)90425-Q PMid:1951540.
    » http://dx.doi.org/10.1016/0002-9378(91)90425-Q
  • 12
    Langham J Jr, Kays DW, Ledbetter DJ, Frentzen B, Sanford LL, Richards DS. Congenital diaphragmatic hernia: epidemiology and outcome. Clin Perinatol. 1996;23(4):671-88. http://dx.doi.org/10.1016/S0095-5108(18)30201-X PMid:8982563.
    » http://dx.doi.org/10.1016/S0095-5108(18)30201-X
  • 13
    Aboud MJ, Al-Shamsy MM. Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. Pediatr Surg Int. 2011;27:567-71. http://dx.doi.org/10.1007/S00383-010-2831-Y
    » http://dx.doi.org/10.1007/S00383-010-2831-Y
  • 14
    Wynn J, Yu L, Chung WK. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2014;19(6):324-30. http://dx.doi.org/10.1016/j.siny.2014.09.003 PMid:25447988.
    » http://dx.doi.org/10.1016/j.siny.2014.09.003
  • 15
    Longoni M, Pober BR, High FA. Congenital diaphragmatic hernia overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews®. Seattle (WA): University of Washington; 2022. PMID: 20301533.
  • 16
    Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic Hernia. Am J Hum Genet. 2007;80(5):825-45. http://dx.doi.org/10.1086/513442 PMid:17436238.
    » http://dx.doi.org/10.1086/513442
  • 17
    Kantarci S, Casavant D, Prada C, et al. Findings from aCGH in patients with congenital diaphragmatic hernia [CDH]: a possible locus for Fryns Syndrome. Am J Med Genet A. 2006;140(1):17-23. http://dx.doi.org/10.1002/ajmg.a.31025 PMid:16333846.
    » http://dx.doi.org/10.1002/ajmg.a.31025
  • 18
    Vora N, Bianchi DW. Genetic considerations in the prenatal diagnosis of overgrowth syndromes. Prenat Diagn. 2009;29(10):923-9. http://dx.doi.org/10.1002/pd.2319 PMid:19609940.
    » http://dx.doi.org/10.1002/pd.2319
  • 19
    Yu L, Bennett JT, Wynn J, et al. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet. 2014;51(3):197-202. http://dx.doi.org/10.1136/jmedgenet-2013-101989 PMid:24385578.
    » http://dx.doi.org/10.1136/jmedgenet-2013-101989
  • 20
    Yu L, Wynn J, Cheung YH, et al. Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia. Hum Genet. 2012;132(3):285-92. http://dx.doi.org/10.1007/S00439-012-1249-0
    » http://dx.doi.org/10.1007/S00439-012-1249-0
  • 21
    Haroun HSW. Congenital diaphragmatic hernias: a review article. Anatomy Physiol Biochem Int J. 2018;4(2):555635. http://dx.doi.org/10.19080/APBIJ.2018.04.555635
    » http://dx.doi.org/10.19080/APBIJ.2018.04.555635
  • 22
    Shin MS, Mulligan SA, Baxley WA, Ho K-J. Bochdalek hernia of diaphragm in the adult: diagnosis by computed tomography. Chest. 1987;92(6):1098-101. http://dx.doi.org/10.1378/chest.92.6.1098 PMid:3677819.
    » http://dx.doi.org/10.1378/chest.92.6.1098
  • 23
    Gale ME. Bochdalek hernia: prevalence and CT characteristics. Radiology. 1985;156(2):449-52. http://dx.doi.org/10.1148/radiology.156.2.4011909 PMid:4011909.
    » http://dx.doi.org/10.1148/radiology.156.2.4011909
  • 24
    Anderson WAD, Damjanov I, Linder J. Anderson’s pathology. 10th ed. USA: Mosby; 1996.
  • 25
    Rosati C. Acute traumatic injury of the diaphragm. Chest Surg Clin N Am. 1998;8(2):371-9. PMid:9619310.
  • 26
    Iiai T, Ohmori K, Ohtaki M, et al. [Adult bochdalek hernia after playing at a tug of war]. Kyobu Geka. 1997;50(11):968-70. Japanese.
  • 27
    Choi J-Y, Yang S-S, Lee J-H, et al. Maternal bochdalek hernia during pregnancy: a systematic review of case reports. Diagnostics (Basel). 2021;11(7):1261. http://dx.doi.org/10.3390/diagnostics11071261 PMid:34359342.
    » http://dx.doi.org/10.3390/diagnostics11071261
  • 28
    Browning DJ. Letter: maternal death and diaphragmatic hernia. Med J Aust. 1973;2(6):297. http://dx.doi.org/10.5694/j.1326-5377.1973.tb128850.x PMid:4744117.
    » http://dx.doi.org/10.5694/j.1326-5377.1973.tb128850.x
  • 29
    Mullins ME, Stein J, Saini SS, Mueller PR. Prevalence of Incidental Bochdalek’s Hernia in a Large Adult Population. AJR Am J Roentgenol. 2001;177(2):363-6. http://dx.doi.org/10.2214/ajr.177.2.1770363 PMid:11461863.
    » http://dx.doi.org/10.2214/ajr.177.2.1770363
  • 30
    Yamaguchi M, Kuwano H, Hashizume M, Sugio K, Sugimachi K, Hyoudou Y. Thoracoscopic treatment of Bochdalek hernia in the adult: report of a case. Ann Thorac Cardiovasc Surg. 2002;8(2):106-8. PMID: 12027798.
  • 31
    Navaratnarajah A, Barry V, Charif R. Bochdalek hernias associated with intrathoracic kidney: a case report and systematic review of outcomes including renal function. Clin Nephrol. 2020;8(1):1-11. http://dx.doi.org/10.5414/cncs109962
    » http://dx.doi.org/10.5414/cncs109962
  • 32
    Banac S, Ahel V, Rozmanić V, Gazdik M, Saina G, Mavrinac B. Congenital diaphragmatic hernia in older children. Acta Med Croatica. 2004;58(3):225-8. PMid:15503687.
  • 33
    Kato H, Aoki Y, Ohtaki J, et al. Sudden death in an adult due to nontraumatic diaphragmatic hernia. Am J Forensic Med Pathol. 2017;38(4):353-5. http://dx.doi.org/10.1097/PAF.0000000000000342 PMid:28901960.
    » http://dx.doi.org/10.1097/PAF.0000000000000342
  • 34
    Hafner K. Fear of Covid-19 leads other patients to decline critical treatment. The New York Times; 2020 [cited 2021 Aug 9]. Available from: https://www.nytimes.com/2020/05/25/health/coronavirus-cancer-heart-treatment.html
    » https://www.nytimes.com/2020/05/25/health/coronavirus-cancer-heart-treatment.html
  • 35
    Solomon MD, McNulty EJ, Rana JS, et al. The Covid-19 Pandemic and the Incidence of Acute Myocardial Infarction. N Engl J Med. 2020;383(7):691-3. http://dx.doi.org/10.1056/NEJMc2015630 PMid:32427432.
    » http://dx.doi.org/10.1056/NEJMc2015630
  • 36
    Jokic-Begic N, Lauri Korajlija A, Mikac U. Cyberchondria in the age of COVID-19. PLoS One. 2020;15(12):e0243704. http://dx.doi.org/10.1371/journal.pone.0243704 PMid:33332400.
    » http://dx.doi.org/10.1371/journal.pone.0243704
  • 37
    Ghosh A, Nundy S, Mallick TK. How India is dealing with COVID-19 pandemic. Sens Int. 2020;1:100021. http://dx.doi.org/10.1016/j.sintl.2020.100021 PMid:34766039.
    » http://dx.doi.org/10.1016/j.sintl.2020.100021
  • 38
    Roy D, Tripathy S, Kar SK, Sharma N, Verma SK, Kaushal V. Study of knowledge, attitude, anxiety & perceived mental healthcare need in Indian population during COVID-19 pandemic. Asian J Psychiatr. 2020;51:102083. http://dx.doi.org/10.1016/j.ajp.2020.102083 PMid:32283510.
    » http://dx.doi.org/10.1016/j.ajp.2020.102083
  • 39
    Varshney M, Parel JT, Raizada N, Sarin SK. Initial psychological impact of COVID-19 and its correlates in Indian Community: an online [FEEL-COVID] survey. PLoS One. 2020;15(5):e0233874. http://dx.doi.org/10.1371/journal.pone.0233874 PMid:32470088.
    » http://dx.doi.org/10.1371/journal.pone.0233874

Publication Dates

  • Publication in this collection
    23 Mar 2022
  • Date of issue
    2022

History

  • Received
    14 Jan 2022
  • Accepted
    15 Feb 2022
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