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Case report

Uni-ventricular atrioventricular connection: dominant left ventricle with hypoplastic right ventricle in an 18-year-old female (case report)

Uni-ventricular atrioventricular connection: dominant left ventricle with hypoplastic right ventricle in an 18-year-old female (case report)

Kedir Negesso Tukeni1,&, Mohammed Mecha Abafogi1, Tadesse Dukessa Gemechu1, Elsah Tegene Asefa1

 

1Division of Cardiology, Department of Internal Medicine, Jimma University, Jimma, Ethiopia

 

 

&Corresponding author
Kedir Negesso Tukeni, Division of Cardiology, Department of Internal Medicine, Jimma University, Jimma, Ethiopia

 

 

Abstract

Congenital heart disease is a condition that affects the hearts structure impacting direction of blood flow. This causes fatigue, cough, difficulty breathing and rhythm disturbances. The common congenital heart diseases manifest early following delivery and may end up in neonatal death if left untreated. The aim of this study was to report a case of single ventricle presented at an age of 18 years, with cough, difficulty breathing and visual disturbances. Evaluation revealed oxygen saturation of 75-80%, plethoric conjunctivae, basal lung crepitation and finger clubbing. Jugular venous pressure was flat, pericardium was quiet, no murmur or gallop rhythms. The hemoglobin was 26mg/dL, and the hematocrit was 75%. Echocardiography revealed dominant left ventricle with hypoplastic right ventricle connected to one-another through membranous ventricular septal defect. Systemic and pulmonary venous blood mix up, as the patient has single ventricle. Waiting surgical intervention, the patient was managed with oxygen, furosemide and phlebotomy.

 

 

Introduction    Down

Congenital heart disease is one or more problems with the heart's structure that exist since birth [1]. This can change the direction of blood flows through the heart. There are many different types of congenital heart defects. Severity ranges from mild to more complex defects, the latter may cause life-threatening complications unless treated surgically during the early age of life [2]. Hypoplastic left heart syndrome is a rare complex heart defect present at birth, where the left side of the heart is extremely underdeveloped [3,4]. However, much less common is when there is the right side of the heart is underdeveloped. Therefore, the aim of this study was to report a case of a single left ventricle presented at the age of 18 years, with cough, difficulty breathing, and visual disturbances.

 

 

Patient and observation Up    Down

Patient information: an 18-year-old female student, who is non-smoker, non-alcoholic, non-diabetic, and non-hypertensive.

Clinical findings: the patient was presented to the emergency unit with difficulty of breathing, cough, palpitation, headache, vertigo, faintness, dizziness, fatigue, visual disturbances, tinnitus, and myalgias, which worsened over the past month. The vital signs were normal, (blood Pressure=100/70 mmHg, Pulse rate of 102 beats per minute, respiratory rate of 24 breaths per minute, and temperature of 36.4°C), apart from the oxygen saturation showing 75-80% with room air. She had hyperemic conjunctiva and injected sclera (Figure 1) and grade III finger clubbing (Figure 2).

Timeline of current episode: February 2021: complete blood count, chest X-ray conducted with no conclusive diagnosis. August 2021: patient referral to the Jimma Medical Center. The chest X-ray, echocardiography, and complete blood count were performed.

Diagnostic assessment: complete blood count (showing hemoglobin of 26 mg/dl and hematocrit of 75%, suggesting secondary polycythemia vera) and echocardiography (Figure 3, Figure 4, Figure 5, and Figure 6, showed dominant left ventricle and hypoplastic right ventricle communicating one-another with membranous type of ventricular septal defect.

Diagnosis: the finding is consistent with the dominant left ventricle with the hypoplastic right ventricle. A diagnosis of hypoplastic right heart syndrome was made.

Therapeutic interventions: supplemental intranasal oxygen at 5 liters per minute, furosemide 1mg/kg/24h (divided into two), and phlebotomy, 350ml every other day was initiated.

Follow-up and interventions: the patient had an excellent response to the oxygen and phlebotomy as she could maintain her oxygen level and her symptoms improved. She remains minimally symptomatic as she needs definitive surgical treatment.

Patients perspective: “I have an expectation of being cured of my heart problem, given that some conditions have completely disappeared and I continue with treatment and clinical follow-up till the surgical treatment”.

Informed consent: ethical clearance was obtained from the Institutional Review Board (IRB) of the Institute of Health, Jimma University. Written informed consent was obtained from the patient before starting the data collection process. The confidentiality and privacy of the patient was assured. Neither the data records nor the extracted data were used for any other purpose.

 

 

Discussion Up    Down

Adult congenital heart diseases are currently becoming common as a result of improved early detection and surgical interventions [1]. However, complex congenital heart diseases are still rare as surgical interventions may not be readily available, especially in sub-Saharan countries where there are limited services. Hypoplastic right heart syndrome (HRHS) is one of the rare complex congenital heart diseases [1,3,4]. This involves the right-sided heart structural underdevelopment which includes the tricuspid valve, and right ventricle with or without pulmonary valves. When these structures do not function properly, the right side of the heart cannot send enough blood to the lungs. This causes abnormally low oxygen levels in the affected child [2].

Tricuspid stenosis or atresia, pulmonary valve stenosis, or atresia are some of the lesions observed in this kind of rare complex congenital cardiac lesions [5,6]. The patient in our report has partial tricuspid atresia, hypoplastic right ventricle with membranous type of ventricular septal defect. These kinds of complex congenital heart disease can be diagnosed while intrauterine and can be safely delivered through the vagina but at the neonatal intensive care unit as it needs supportive treatment which includes administration of prostaglandins to keep the patent ductus arteriosus open so that it facilitates surgical interventions [2]. Our patient didn´t get any of these interventions but survived till their late teenage when she started to manifest signs and symptoms of hypoxia. Therefore, this case report is quite interesting and rare. In addition, it may be considered unique in relation to the late clinical presentation without any support in childhood.

 

 

Conclusion Up    Down

Right heart hypoplastic syndrome is a rare case where most of the affected individuals will demise unless treated surgically early in their life, with very few possibilities of living up to adulthood without any intervention. With minimal support with oxygen and phlebotomy, the patient, in this case, reports improved from her symptoms, at least clinically, till definitive surgical treatment.

 

 

Competing interests Up    Down

The authors declare no competing interests.

 

 

Authors' contributions Up    Down

Data collection: Kedir Negesso Tukeni, Elsah Tegene Asefa, Mohammed Mecha Abafogi, Tadesse Dukessa Gemechu. Data analysis and interpretation: Kedir Negesso Tukeni, Elsah Tegene Asefa. Editor of the article: Kedir Negesso Tukeni, Elsah Tegene Asefa. Item revision: Kedir Negesso Tukeni, Mohammed Mecha Abafogi, Tadesse Dukessa Gemechu, Elsah Tegene Asefa. All authors approved the final version of the manuscript.

 

 

Figures Up    Down

Figure 1: an 18-year-old female with the diagnosis of uni-ventricular hypoplastic right heart syndrome, hyperemic conjunctivae and injected sclerae

Figure 2: clubbing from a patient with uni-ventricular hypoplastic right heart syndrome, the picture taken after consent from the patient

Figure 3: echocardiography of an 18-year-old female with uni-ventricular hypoplastic right heart syndrome; parasternal long axis view

Figure 4: echocardiography of an 18-year-old female with uni-ventricular hypoplastic right heart syndrome: apical four chamber long axis view

Figure 5: (A, B) echocardiography of an 18-year-old female with uni-ventricular hypoplastic right heart syndrome: apical four-chamber view at different positions

Figure 6: (A-J) echocardiography of the same patient at different views and Doppler studies

 

 

References Up    Down

  1. Valente AM, Dorfman AL, Babu-Narayan SV, Krieger EV. Congenital heart disease in the adolescent and adult. In: Braunwald´s Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Elsevier; 2022.

  2. Waltzman M, Torrey SB, Wiley JF. Initial evaluation of shock in children. UpToDate, Waltham, MA. 2015. Google Scholar

  3. Centers for Disease Control and Prevention. Facts about hypoplastic left heart syndrome. 2019. Accessed February 22, 2023.

  4. American Heart Association. Single ventricle defects. 2010. Accessed February 22, 2023.

  5. Wojtowicz A, Raczka M, Kordon Z, Ochoda-Mazur A, Janowiec K, Huras H et al. Hypoplastic left heart syndrome: From the prenatal to the postnatal period. Ginekol Pol. 2021;92(4):289-299. PubMed | Google Scholar

  6. National Heart, Lung, and Blood Institute. What are congenital heart defects? Accessed March 24, 2023