Via Research Recognition Day 2024 VCOM-Carolinas

Clinical Case-Based Reports

Suspected Familial Hypertrophic Cardiomyopathy in a Family Living in Underserved Regions of the Dominican Republic: A Case Report Dipal Mistry, OMS-III, Erin Field, OMS-II, Kaitlin Murphy, OMS-II, Brendan Raville, OMS-II Edward Via College of Osteopathic Medicine, Department of Biomedical Sciences, Spartanburg, SC 29303 Introduction Clinical Evaluation Conclusions

● Symptomatology: multiple children in the family presented with concerning exertional cardiac symptoms– chest pain, dyspnea, tinnitus, epistaxis, and pulsating in neck ● Physical Exam: 2-3/6 systolic murmurs worsening upon standing and lessening upon squatting, consistent with a “HCM murmur.” ● Family History: Recent sudden cardiac death in the family, raising the suspicion for a familial condition. ● Genetic Mutations: Currently, the two most common genes associated with Familial Hypertrophic Cardiomyopathy are the MYH7 and MYBC3 variants. Other potential variants include TPM1, TNNI/TNNT, MYL2, PRKAG2, and TMPO. ● Further Pending Evaluation : Through contacts at the Oscar de la Renta Pediatric Center, our goal is to perform an electrocardiogram, echocardiogram, and genetic testing on three of these family members (Mother, 13 year old male, and 11 year old female), to obtain an accurate diagnosis and better understand the pathogenesis of their disease to provide appropriate treatment. ● Additional findings: These patients were also afflicted with conditions unrelated to their cardiac symptoms, which we treated accordingly, Diagnoses and treatments can be seen in table 2.

Familial hypertrophic cardiomyopathy (HCM) is a genetic cardiovascular disorder characterized by abnormal thickening of the septum between the two ventricles of the heart. This condition has a strong genetic component and is typically inherited, as multiple genes have been found to be associated with HCM. Diagnosing HCM is made on the basis of both patient history and genetic testing.

Family Tree

Mother ● Pregnant 33 year old ● Vaginal candidiasis ● Seasonal Allergies ● Scabies

Father Unknown age & medical history

Half sister ● Deceased age 23

Key aspects of familial hypertrophic cardiomyopathy include:

14 year old Female ● Clinical Evaluation not performed

11 year old Female ● Scabies ● Parasitic infection ● 2/6 systolic murmur louder upon standing and softer when squatting ● Cardiac Ultrasound:

1 year old Male ● Pulsatile carotids ● Otitis media ● Parasitic infection ● Umbilical hernia ● 3/6 systolic murmur radiating upward

Myocardial Thickening

Symptoms

5 year old Female ● Chest pain on exertion ● Scabies ● Left leg pain ● 2/6 systolic murmur radiating upward

Complications

Genetics

Interventricular septum thickens and makes it harder to pump blood out of the LV

Arrhythmias, heart failure, sudden cardiac death

Mutations in genes for heart muscle proteins

Asymptomatic or shortness of breath, chest pain, fatigue, palpitations, dizziness, fainting, edema

13 year old Male ● In high blood pressure events: epistaxis, dyspnea on exertion, tinnitus, presyncope, tunnel vision, headache, pounding pulse in ears, chest pain ● Anomalous jugular venous return with distention on valsalva ● Pulsatile carotids ● Extremity bruising ● Scabies and parasitic infection ● 3/6 systolic murmur radiating to the carotids- louder when standing and softer with squatting ● Cardiac Ultrasound: possible mitral regurgitation, thickened interventricular septum, and left ventricular hypertrophy

possible interventricular septum thickening and left ventricular hypertrophy

4 year old Female ● Upper respiratory infection ● Seasonal Allergies ● Labial lesion ● Bacterial vaginosis ● Urinary Tract infection ● Parasitic infection ● 3/6 systolic murmur

Since familial hypertrophic cardiomyopathy is a genetic condition, genetic counseling and testing for family members is crucial to identify individuals at risk and to provide appropriate monitoring and preventive measures. It's essential for individuals diagnosed with familial HCM to work closely with a healthcare team specializing in cardiology to manage the condition effectively in order to minimize potential complications.

Patient ID

Diagnosis

Treatment

6 year old Female ● Productive cough

Mother (33 yo)

7 weeks Pregnant Scabies Vaginal candidiasis Seasonal Allergies UTI Scabies Parasitic Infection Scabies Parasitic Infection Scabies Parasitic Infection Atopic Dermatitis Scabies Parasitic Infection Scabies Parasitic Infection Seasonal Allergies UTI Otitis Media Parasitic Infection

Calcium Carbonate Acetaminophen Monistat

● Hives on extremities ● Right ear irritation ● Upper respiratory tract infection ● Scabies and parasitic infection ● 3/6 systolic murmur

Loratadine Cephalexin Ivermectin Albendazole Ivermectin Albendazole Ivermectin Albendazole Loratadine Ivermectin Albendazole Ivermectin Albendazole Loratadine Cephalexin Amoxicillin Albendazole

Child #2 (13 yo M)

Child #3 (11 yo F)

Child #4 (6 yo F)

Case Presentation

Child #5 (5 yo F)

Child #6 (4 yo F)

A family of eight presented to the mobile clinic at Escuela Nazaret, Friusa to seek medical care as they do not have regular access. The mother of seven children, brought six of her children to the visit with a number of chief complaints. She was unaware of any past medical history aside from seasonal allergies and no one in the family is currently on any medications. The only family history provided was the recent sudden death of her half-sister at the age of 23. The focus of this medical case report will be on the mother, the oldest son (13M) and oldest evaluated daughter (11F).

Symptomatic Hypertension ● Peripheral Vision Loss ● Profuse Epistaxis ● Pulsatile Tinnitus

Child #7 (1 yo M)

Systolic Murmur

Table 2: Patients’ diagnoses and treatment given in the pop-up clinic

● Radiating upward ● Postural Changes ○ Squatting → Murmur decreased ○ Standing/ Valsalva → Murmur increased

Potential Treatment and Outcomes

Patient ID

Complaints and review of systems

Through timely access to these diagnostic tools, including echocardiograms and genetic testing, there is an opportunity to improve patient outcomes for these underserved community members with this rare heart muscle disease. Current HCM treatments include pharmacological therapy (beta blockers, calcium channel blockers), implantable cardiac defibrillators to control potential arrhythmias, or a surgical myomectomy or septal ablation to reduce the risk of a left ventricular outflow obstruction. Proper treatment according to current medical guidelines can increase their 10-year survival to 94% and this represents an incredible improvement in longevity and quality of life. Because we discovered the cardiac condition in the DR, the family will be treated accordingly by Dominican physicians. We are hopeful that with this early diagnosis, appropriate treatment will allow for symptomatic management and a lessened likelihood of sudden cardiac events.

Mother (33 yo)

2 months of absent menses, headache (HA), vaginal irritation, dysuria, suprapubic pain, and difficulty breathing while sleeping

Chest pain and near-syncope with exertion

Clinical Findings Suggestive of Genetic Cardiac Pathology

Pulsatile Carotids

Child #1 (F) Not present at clinic Child #2 (13 yo M) During exercise and high pressure events: profuse epistaxis, HA, tunnel vision and, chest pain (CP), near-syncope, and pulsatile tinnitus “Lump” on the front of his neck, several bruises on extremities Child #3 (11 yo F) HA, CP on exertion, abdominal pain with nausea, vomiting, diarrhea (n/v/d), 8 days of productive cough with green mucus Child #4 (6 yo F) HA, productive cough with green mucus, allergies, right ear pain, and abdominal pain with n/v/d Child #5 (5 yo F) HA, CP with exercise, left leg pain, itching on her feet Child #6 (4 yo F) Abdominal pain, vaginal discomfort and irritation Child #7 (1 yo M) Fever, abdominal pain with v/d, cough, congestion, pulling at left ear

Echocardiogram

Venous Anomaly

S

References/Acknowledgements

We would like to thank the Grupo Puntacana Fundacion for allowing us to assist in the care of this family. We would also like to thank our physician mentors for teaching us the diagnostic skills necessary for this type of care. Currently awaiting a waiver from the IRB for this case report. Please use the QR code for the references.

Left: Parasternal short axis echocardiogram view of 13 year old boy. Thickened ventricular myometrium and interventricular septum (S) is present. Right: Likely mitral regurgitation demonstrated by qualitative doppler view on mobile POCUS

Distended jugular veins with valsalva

Table 1: Patients’ complaints and a subjective review of systems

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2024 Research Recognition Day