The following is my case study. This is my disclosure. The following case study is about genetic use in cardiomyopsy. Through the case study, we want to recognize left ventricular involved in arrhythmogenic cardiomyopsy, and especially in a setting of established family history and positive genetic screening results. A 20-year-old Caucasian female with no significant medical history suddenly collapsed and died while watching a baseball game at home. Her mom reported that she only had a mild chest discomfort days before the event and a vague feeling of intermittent pre-syncope pain. The autopsy showed significant biventricular arrhythmogenic ventricular cardiomyopsy. She became a program of the study, promoting several members to seek screening. The program's mom is a 50-year-old female with no history of cardiac issues. She reported two family members on her maternal side who had a sudden cardiac death around age 30 to 40, and one family member underwent cardiac transplant. She denied symptoms of palpitations, syncope, or dizziness, and was screened with cardiomyopsy and genetic testing. On cardiomyopsy, she had biventricular normal size and function, but LGE was noticed on the right ventricular free wall, left ventricular antireceptor, inferior and infrared receptor wall, which indicates regional scar formation and mild cardiac fibrosis. Genetic testing showed a variant, PT356K, in the gene for the decimalsomal protein, decimoplankin, variant in GUP. Another decimalsomal protein that includes plankoglobin, both findings were defined as variants of undetermined significance by the diagnostic laboratories. On screening the proband's asymptomatic 18-year-old sister, cardiomyopsy revealed a normal ventricular size and function, but extensive LGE involving the antireceptor, infrared receptor, inferior and infrared lateral wall of the left ventricular only, sparing the right ventricular. Entirely, genetic testing showed a variant, PT356K, in the gene for the decimalsomal protein, the same mutation of the decimoplankin, PT356K. Cardiomyopsy of the 72-year-old maternal grandmother of the proband revealed mildly reduced LV systolic function with thinning and severe hypokinesis of the distal and apical inferior, infralateral and basal antireceptor wall. A small area of basal antireceptor wall was thinned and replaced by fatty tissue and demonstrated sub-endocardial delayed gadolinium enhancement in that segment. The right ventricle had normal size and function. She was also found to have the same mutation of the decimoplankin, PT356K. This family pedigree illustrating the varying phenotypic expression of the disease and associated genetic variants. DSP is a decimosomal protein, decimoplankin. GUB is another decimosomal protein that includes plantoglobin. Although the proband's mom, grandma, and younger sister shared the mutation, her older sister remained asymptomatic with normal test results, including cardiomyopathy and testing for genetic mutation. Even the combination of imaging findings, genetic testing, and history of sudden cardiac death in a relative, all three patients decided to undergo implantable defibrillator placement. In this family, the shared DSP variant segregated with the family and correlated with the presence of abnormal findings of the cardiomyopathy. We can recognize the utility of cardiomyopathy in screening individuals with family history of genetic cardiomyopathy, even in the case with no symptoms, a normal echo, a normal EKG. Recognize the variance in phenotypic expression of the rismogenic cardiomyopathy within the same family. In this case, we recognize the utility of cardiomyopathy in screening individuals with family history of genetic cardiomyopathy, even in the case with no symptoms, a normal echo, a normal EKG. Recognize the variance in phenotypic expression of rismogenic cardiomyopathy within the same family. The next case study will focus on hypertrophic cardiomyopathy treatment. Here is a patient who is a 73-year-old with history of hypertrophic cardiomyopathy, history of syncope, history of VT postablation, post-ICD sleep apnea on CPAP. Patient has shortness of breath and fatigue after exertion for years. Cardiomyopathy shows a thickening anterior septal wall of 24 millimeter and a mid-ventricular thickening of 13 millimeter. 18% of LGE of the thickened anterior septum near the base and extending into mid-septum, mid-ventricle. Echo shows a maximum LVOT pressure gradient of 36 millimeter per minute and rest and increased to 106 millimeter mercury with the biosolver. Currently, on metropolosuccinate ER, 100 milligram daily. So what's the next treatment plan? So we notice here the patient have a genetic testing VUS. So even with genetic VUS, it's still genetic disease. All first-degree family members need screen. Cardiomyopathy shows asymmetric thickened septum. The patient will first use the bead blocker, but the symptoms are now relieved. Patient has a history of intolerance of calcium channel blocker. Then patient was added malacomptine 5 milligram daily about one and a half months ago. Patient reported no symptoms on the first day, starting the medication and continue asymptomatic the whole month. Reported echo shows peak gradient 40 millimeter mercury and rest and increased to 47 millimeter mercury with the biosolver. 47 millimeter mercury is obviously decreased compared with 106 millimeter mercury with the biosolver before the medication. This picture shows the mechanism of malacomptine. The left is the normal sarcomia. Sarcomia is composed of thick and thin filaments and responsible for cardiomuscle contractility. The sarcomia is a fundamental unit of myosite contraction. It is a distance between the Z lines. Myosin is a major part of thick filaments and actin is the major part of thin filaments. The Z lines are closer during contraction because the actin and myosin interaction generates crossbridge, which is slide the myofilaments over each other. During relaxation, myosin and actin detach and the Z lines slide back apart. In hypertrophic cardiomyosin, there is hypercontractility, increased myosin activity. Now recycling in a relaxed state, myocomptine as a myosin inhibitor will decrease the contractility and decrease the obstruction. Also when we use myocomptine in clinic, we should notice the inclusion and exclusion criteria and the side effects of myocomptine. If the patient with ejection fraction less than 50%, we should discontinue myocomptine. Also, if there's some gradient change, we should adjust the dose of myocomptine. Through these two cases, we learned genetic testing used in clinical diagnosis and treatment strategy for genetic cardiomyopsin. I hope this is a helpful summary of inheritable cardiomyopsin. It is a brief overview of hypertrophic cardiomyopsin left ventricle non-compaction. And there are many more types of other cardiomyopsin I can't cover today. Hopefully we know how underlying genetic part play a role in the cardiomyopsin. Thank you.

genetic cardiomyopathy

case studies

arrhythmogenic ventricular cardiomyopathy

sudden cardiac death

genetic testing