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The case study of Cardiac Failure
Autopsies that are also known as post-mortem or necropsies examinations are usually performed by the anatomic pathologies in order to find out the causes of death of individual and in order to investigate addition medical reasons in order to add to the medical knowledge. For the further investigation and differential diagnosis, autopsies are performed on the discretion of the certified physician. The autopsies of the deceased person help in identifying the causes that have contributed to the death of a deceased person.
In the case of the 14-year-old boy, the autopsy will not only help in further diagnosis and differential investigation of his case but will also help in the formulation of a genetic report in order to find out the genetic mutation that has contributed to the death (Pol, et al., 2014).
A standard autopsy of sudden deaths of young victims from cardiac failure does not commonly identify a particular pathological diagnosis. In such cases, the sudden death caused due to cardiac failure may be secondary to the cardiac condition. For an unexpected sudden death, failure to identify a genetic etiology may leave at risk the surviving members for a similar tragedy.
There are a number of cases where traditional pathological examinations cannot provide the exact cause of death. Same is the case with the 14 year old boy whose exact cause for the sudden death cannot be diagnosed by traditional pathological examinations and therefore, as per the opinions of the experts, in such cases, molecular autopsies is required in order to determine the exact causes and factors that have contributed to sudden death (Pol, et al., 2014).
These genetic autopsies fall into three categories. Analysis of gens panel that is believed to be connected with SCD, whole genome sequence (WGS), whole exome sequence (WES). All the three categories involve massive parallel sequencing, also known as sequencing of the next generation in order for detecting gene mutations. Gene panels are the time consuming and least complex and the most common tool and their autopsies can help in generating the genetic report of the deceased person (Ataklte, et al., 2013). The exome sequencing focused on the protein-coding regions of DNA which of the total genome represents less than 2%. In analysing panels of known genome, WES removes the bias inherent by examining the entire exome. The technique is cost-effective and helps in producing the genetic report in the cases where molecular autopsies are conducted. WES also facilitates in identifying new gene variants that are linked with the primary electrical disease or inherited cardiomyopathies (Ataklte, et al., 2013).
Of the three methods that can be used to detect genetic mutations, whole genome sequencing is the most complex and can detect genetic mutations that the other techniques cannot including mutations within noncoding DNA and chromosomal rearrangements (Agarwal, et al., 2015).
During an autopsy, for the formation of a genetic report, WGS facilitates in comparing the entire genome sequence and the resulting sequence of a genome that is the referral for generating a list of DNA variants (Yokokawa, et al., 2013). WGS, in theory, is capable of detecting every DNA polymorphism in a genome of a person thus enhancing the chance of detecting causative gene mutation. This, however, makes interpreting the genetic report difficult especially in the case of sudden individual death.
In order or simplify data interpretation and in order to help filter it irrelevant variants, the laborites and the medical centers that perform molecular autopsies establish different criteria in order to prioritise such variants (Pol, et al., 2014). For instance, due to their nonsense mutations, disruptive nature, nonsynonymous substitutions, insertions and deletions and mutations that affect RNA splicing are labeled for further study as good candidates as are mutations at highly conserved nucleotides (Agarwal, et al., 2015). Once the gene variants are generated and after the prioritisation of the mutations, the medical experts then perform computer simulations in order to detect the cause of death and the effect of a particular mutation on the deceased person on protein function. Thus, this helps in the preparation of complete genetic report through molecular autopsy (Yokokawa, et al., 2013).
After the completion of the molecular autopsy, the experts when possible try to determine the contributing factors of death and the cause of death. The final genetic report, however, takes a few weeks and is available on the request of the kin (Ataklte, et al., 2013).
In regards to the tests of the patients, it is important for the paramedical staff to evaluate the complete history of the patient, any symptom that might be related to heart diseases in the history of the patient and medical history of patient’s family (Lee, et al., 2012). The normal and regular test of the patient includes continuous monitoring of blood pressure, heart murmurs, and medical history of cardiac failures (Ataklte, et al., 2013). However, in order to obtain clearer results in the case of premature ventricular contradiction, the initial investigation from doctors include Resting 12-lead ECG, FBC, and TFTs, and electrolytes that were missing from the conducted tests of the case study subject. Other tests include serum calcium and magnesium, GP surgery, Ambulatory ECG monitoring (Lee, et al., 2012). Moreover, for the time till proper diagnoses from doctors are conducted patients are supposed to be kept under observation to take instant notice if any of the things went wrong. Moreover, parents of minor children are also advice to take special care of them in accordance with the advice list of doctors to avoid any unfortunate accident (Pol, et al., 2014). On the contrary, in the case of the subject of the case study, no such safety measures were taken, as he was discharged from hospital as soon as the doctors have seen the clearance of his test, however, at that time premature ventricular beats were observed from his ECG (Pol, et al., 2014). It was the duty of doctors at that time to guide his parents about the safety measure that they were supposed to be taken so is to avoid any further harm to his health. However, it can be said that the carelessness was done from the both the sides that resulted in the loss of a precious life (Yokokawa, et al., 2013).
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