Clinical implications of dextrocardia based on four visceroatrial situs studies.

BACKGROUND: Previous studies on congenital heart diseases (CHD) associated with dextrocardia were based on selective patient databases and did not reflect the full spectrum of dextrocardia in the general population. Additionally, these studies had complex classification and presentation. Nor did these studies elaborate on the distribution of the associated CHD's complexity, the various segmental connections, and associated CHD among the four visceroatrial situs. METHODS: We retrospectively reviewed the medical records of 211 children with primary dextrocardia. We used a segmental approach to diagnose CHD. We then analyzed and compared the distribution of the above-mentioned issues among the four visceroatrial situs. RESULTS: Dextrocardia occurred most commonly with situs inversus (52.6%), followed by situs solitus (28.4%), asplenia (17.1%), and polysplenia (1.9%). Although some patients had a structurally normal heart (22.7%) or they were associated with simple CHD (17.5%), most patients had complex CHD (59.7%) consisting of a single ventricle (34.6%) or conotruncal anomaly (25.1%) (double-outlet right ventricle [7.6%], corrected transposition of the great arteries [6.2%], complete transposition of the great arteries [5.7%], tetralogy of Fallot [4.7%], etc.). Situs inversus or polysplenia had a higher prevalence of a structurally normal heart or associated with simple CHD, two patent atrioventricular (AV) valves connections, and biventricular AV connections. Situs solitus or asplenia had a higher prevalence of associated complex CHD, common AV valve connection, univentricular AV connection, pulmonary outflow tract obstruction, and anomalous pulmonary venous drainage. CONCLUSION: Our study finds that situs inversus is the most common visceroatrial situs in dextrocardia. Although some patients had a structurally normal heart or were associated with simple CHD, most patients have associated complex CHD consisting of a single ventricle or conotruncal anomaly. Dextrocardia is associated with a higher incidence of complex CHD in situs solitus and asplenia groups than in situs inversus and polysplenia groups.

Subjective experience of parent-child relationship in adolescents with congenital heart disease: A qualitative study.

PURPOSE: To explore the parent-child relationship through the subjective experience of adolescents with congenital heart disease (CHD). DESIGN AND METHODS: A descriptive phenomenology approach was adopted. Twelve adolescents aged from 12 to 18 years with CHD were recruited from the pediatric cardiology clinics at two medical centers in Taiwan. Data were collected through in-depth interviews. Data were analyzed using Colaizzi's phenomenological analysis method, and results were reported in accordance with the Consolidated Criteria for Reporting Qualitative Research guidelines. RESULTS: The experiences of the adolescents with CHD revealed five themes: 1. the enhancement of self-worth through parents' love; 2. the importance of parental support in desperate situations; 3. the development of a sense of security through mutual understanding; 4. growth under parental expectations; and 5. parental overcontrol disguised as love. CONCLUSIONS: The parent-child relationship encompasses both positive and negative experiences. Adolescents prioritize their relationship with parents over that with peers. PRACTICE IMPLICATIONS: Nurses caring for adolescents with CHD can improve care by recognizing the influence of parental love, support in challenges, mutual understanding, parental expectations, and potential negative consequences of overcontrol. This insight guides effective guidance for adolescents, enhancing parent-child interactions and overall well-being.

In-hospital care of children with COVID-19.

Children have been reported to be less affected and to have milder severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection than adults during the coronavirus disease 2019 (COVID-19) pandemic. However, children, and particularly those with underlying disorders, are still likely to develop critical illnesses. In the case of SARS-CoV-2 infection, most previous studies have focused on adult patients. To aid in the knowledge of in-hospital care of children with COVID-19, this study presents an expert review of the literature, including the management of respiratory distress or failure, extracorporeal membrane oxygenation (ECMO), multisystem inflammatory syndrome in children (MIS-C), hemodynamic and other organ support, pharmaceutical therapies (anti-viral drugs, anti-inflammatory or antithrombotic therapies) and management of cardiopulmonary arrest.

Health-promoting lifestyle and life satisfaction in full-time employed adults with congenital heart disease: grit as a mediator.

AIMS: Enhancing life satisfaction is vital for adults with congenital heart disease (ACHD). Life satisfaction potentially correlates with a health-promoting lifestyle and grit. However, the mediating role of grit-a trait marked by perseverance and long-term goal-oriented passion-between a health-promoting lifestyle and life satisfaction in ACHD remains unverified. This study aimed to examine the relationships between health-promoting lifestyle, grit, and life satisfaction in full-time employed ACHD and to confirm the mediating role of grit. METHODS AND RESULTS: A total of 181 full-time employed ACHD aged 20-59 years with patient-reported New York Heart Association class I-IV were recruited from two medical centers in northern Taiwan. Participants completed questionnaires, including the short version of the Chinese Health-Promoting Lifestyle Profile scale, Grit-10 scale, and Satisfaction with Life Scale between February and December 2022. Data analysis employed the Hayes PROCESS macro. Health-promoting lifestyle, grit, and life satisfaction were discovered to be positively correlated. Overall grit score was a partial mediator between a health-promoting lifestyle and life satisfaction, accounting for 20% of the total variation. Of the grit domains, perseverance served as a partial mediator between a health-promoting lifestyle and life satisfaction, accounting for 32% of the total variation, whereas passion had a nonsignificant mediation effect. CONCLUSION: A health-promoting lifestyle boosts ACHD individuals' life satisfaction through grit, particularly perseverance. Integrating grit into such a lifestyle could benefit from comprehending support systems and influential factors aiding grit development for enhanced life satisfaction.

Factors Affecting Psychological and Health-Related Quality-of-Life Status in Children and Adolescents with Congenital Heart Diseases.

Congenital heart disease (CHD), a severe cardiac defect in children, has unclear influences on young patients. We aimed to find the impacts of differently structure heart defects and various treatments on psychology and health-related quality of life (HRQoL) in CHD children and adolescents. CHD patients aged between 6 and 18 years old visited our hospital from 1 May 2018 to 31 September 2018, and their principal caregivers were asked to participate. We used two validated questionnaires, Children Depression Inventory-TW (CDI-TW) and Child Health Questionnaire-Parent Form 50 (CHQ-PF 50), to evaluate CHD patients' psychological and HRQoL conditions. Participants were grouped based on their cardiac defects and previous treatments. We analyzed the results via summary independent-samples t-test with post hoc Bonferroni correction and multivariant analysis. Two hundred and seventy-seven children and their principal caregivers were involved. There was no apparent depressive condition in any group. Single cardiac defect patients exhibited similar HRQoL to controls; simultaneously, those with cyanotic heart disease (CyHD), most multiple/complex CHDs children and adolescents, and those who received invasive treatments had poorer HRQoL. CyHD impacted the most on patients' psychological and HRQoL status. Patients with sole cardiac defect could live near-normal lifes; on the other hand, CyHD had the worst effects on patients' psychology and HRQoL.

Kawasaki Shock Syndrome with Initial Presentation as Neck lymphadenitis: A Case Report.

Kawasaki disease (KD) is an acute systemic vasculitis of unknown cause that mainly affects infants and children and can result in coronary artery complications if left untreated. A small subset of KD patients with fever and cervical lymphadenitis has been reported as node-first-presenting KD (NFKD). This type of KD commonly affects the older pediatric population with a more intense inflammatory process. Considering its unusual initial presentation, a delay in diagnosis and treatment increases the risk of coronary artery complications. Herein, we report the case of a 9-year-old female with fever and neck mass that rapidly deteriorated to shock status. A diagnosis of KD was made after the signs and symptoms fulfilled the principal diagnostic criteria. The patient's heart failure and blood pressure improved dramatically after a single dose of intravenous immunoglobulin. This case reminds us that NFKD could be the initial manifestation of KDSS, which is a potentially fatal condition. We review the literature to identify the overlapping characteristics of NFKD and KDSS, and to highlight the importance of early recognition of atypical KD regardless of age. We conclude that unusually high C-reactive protein, neutrophilia, and thrombocytopenia serve as supplemental laboratory indicators for early identification of KDSS in patients with NFKD.

Expectant management of prolonged hemolysis following complete transcatheter coil closure of a patent ductus arteriosus after previous pulmonary artery banding: a case report.

BACKGROUND: Transcatheter coil occlusion has been the treatment of choice for closure of small patent ductus arteriosus (PDA). In spite of its safety, complications such as hemolysis still occasionally occur. And the hemolysis almost always occurs following partial transcatheter closure of PDA; hence, it occurs extremely rarely following complete transcatheter closure of PDA without residual ductal flow. CASE PRESENTATION: Here, we describe a male newborn who developed prolonged hemolysis following complete transcatheter coil closure of his PDA after previous palliative pulmonary artery banding. Over the following days, we corrected his refractory anemia by repeated blood transfusion with packed red blood cells and frequently monitored his hemoglobin, serum total bilirubin, and serum lactate dehydrogenase. We speculated that the high-velocity pulmonary blood flow jet coming into contact with the extruded part of the coil led to red blood cell mechanical injury, thereby resulting in the hemolysis. We adopted expectant management in expectation of the endothelialization of the coil with a resultant reduction in the hemolysis. The hemolysis, as expected, was reduced gradually until it spontaneously resolved 81 days after coil implantation. CONCLUSIONS: This case reminds us that hemolysis can still potentially occur following complete transcatheter coil closure of PDA. It also highlights the importance of preventing coils from extruding into the pulmonary artery in patients after previous pulmonary artery banding.

Investigation of echocardiographic characteristics and predictors for persistent defects of patent foramen ovale or patent ductus arteriosus in Chinese newborns.

BACKGROUND: Persistent patent foramen ovale (PFO) and patent ductus arteriosus (PDA) increase the adult risk of cryptogenic embolic stroke and chronic pulmonary hypertension. To understand the characteristics of PFO and PDA in newborns, we investigated the spontaneous closure rate and derived the determinants for residual defects. METHODS: We utilized the database of congenital heart disease (CHD) in Xiamen ChangGung Memorial Hospital from 2015 to 2017 and allocated 2523 eligible newborns into four groups according to PDA, PFO, both or neither at birth. A total of 574, 1229, 202 and 518 newborns were assigned into the group of PFO and PDA, PFO alone, PDA alone and non-PFO/non-PDA, respectively. Regular echocardiographic follow-ups at baseline, 6, 12 and 24 months after birth were performed for evaluating the spontaneous closure rate in the subjects. Regression analysis was carried out to study the risk factors of residual congenital defects. RESULTS: Newborns with PFO alone had the youngest birth age and lowest birth weight among the four groups. About one in four PDA-alone newborns had concomitant small ASD, i.e., <5 mm in diameter. Echocardiographic study showed that 71.3% and 30.8% of CHD newborns had PFO and PDA, respectively, compared to less than 10% of them having ASD or VSD. However, more than 95% of newborns with PFO or PDA closed spontaneously at 6 months, in contrast to about 30% of newborns with ASD or VSD had persistent existence of the intracardiac defects. Complex CHD significantly linked to persistent PFO or PDA at 6 and 12 months, with an adjusted hazard ratio of 9.03 (95% CI 1.97-41.46) and 12.11 (95% CI 2.11-69.72), respectively. CONCLUSIONS: Chinese newborns with PFO or PDA expressed differences in characteristics and concomitant congenital defects. Additionally, persistent PFO or PDA is strongly associated with complex CHD and requires long-term regular monitoring for future associated complications.

Factors Associated With In-hospital Mortality of Children With Acute Fulminant Myocarditis on Extracorporeal Membrane Oxygenation.

Aim: To analyze the factors associated with in-hospital mortality of children with acute fulminant myocarditis on venoarterial extracorporeal membrane oxygenation (VA-ECMO). Methods: This was a retrospective cohort study using chart reviews of patients diagnosed with acute fulminant myocarditis at the pediatric intensive care unit of two tertiary medical centers between January 1, 2005 and December 31, 2017. The inclusion criteria for this study were: (1) age from 1 month to 18 years; (2) diagnosed with acute myocarditis; (3) cardiogenic shock and need vasoactive-inotropic score ≥20 within 48 h after the use of vasoactive-inotropic agents; and (4) the need for ECMO placement. Results: Thirty-three children with acute fulminant myocarditis who needed ECMO were included. Clinical parameters were retrospectively reviewed. The overall survival rate was 69.6%. Higher levels of pre-ECMO troponin-I and pre-ECMO lactate, and lower post-ECMO left ventricular ejection fraction (LVEF) were significantly associated with in-hospital mortality in univariate analysis. Only higher pre-ECMO lactate and lower post-ECMO LVEF remained as predictors for in-hospital mortality in multivariate analysis. The areas under the curve of pre-ECMO lactate and post-ECMO LVEF in predicting survival were 0.848 (95% CI, 0.697-0.999, p = 0.002) and 0.824 (95% CI, 0.704-0.996, p = 0.01), respectively. A pre-ECMO lactate level of 79.8 mg/dL and post-ECMO LVEF of 39% were appropriate cutoff points to predict mortality. Conclusion: Pre-ECMO lactate level was associated with mortality in children with acute fulminant myocarditis, with an optimal cutoff value of 79.8 mg/dL. After VA-ECMO implantation, post-ECMO LVEF was associated with mortality, with an optimal cutoff value of 39%. The use of LVADs or urgent heart transplantation should be considered if the post-ECMO LVEF does not improve.

Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study.

BACKGROUND: Turner syndrome (TS) is characterized by growth failure, primary ovarian failure, cardiac anomalies, and other anomalies. Cardiovascular abnormalities such as bicuspid aortic valve (BAV), coarctation of the aorta (CoA), aortic stenosis (AS), and aortic dilatation (AD) account for some cases of TS-related early mortality. In this study, we investigated the correlations between cardiovascular phenotypes and karyotypes in TS. METHODS: We conducted a retrospective cohort analysis of 105 local patients with TS aged 6-43 years between January 1994 and December 2018. They were categorized into two groups of complete monosomy X (45,X) and other X chromosome abnormalities. Most of the patients underwent echocardiography (n = 88, 83.8%), cardiac computed tomography (CT) angiography, and/or cardiovascular magnetic resonance imaging (MRI) (n = 58, 55.2%). We used independent the Student's t test, chi-square test or Fisher's exact test, and log-rank test to compare differences in continuous data, proportions, and Kaplan-Meier survival analysis results between the two TS groups. RESULTS: 45,X was the most common karyotype (n = 47, 44.8%). Phenotypically, cardiovascular malformations were found in 29 patients with TS (27.6%). BAV (n = 6), CoA (n = 3), AS (n = 2), ASD (n = 1, 2.5%), and PAPVR (n = 1, 2.5%) were found in only the 45,X group. The mean age at AD onset was 25.55 ± 5.78 years (mean ± SD). Survival analysis of age at onset of AD demonstrated no significant difference between the two groups (p = 0.051). CONCLUSION: Cardiovascular abnormalities, such as BAV, CoA, AS, and AD, are common and potentially progressive in patients with TS, especially those with the 45,X karyotype. They should receive immediate cardiological assessments upon receiving diagnosis, regular assessments, and treatment to carefully control blood pressure, even with no apparent congenital heart disease.

Analysis of clinical parameters and echocardiography as predictors of fatal pediatric myocarditis.

Pediatric myocarditis symptoms can be mild or as extreme as sudden cardiac arrest. Early identification of the severity of illness and timely provision of critical care is helpful; however, the risk factors associated with mortality remain unclear and controversial. We undertook a retrospective review of the medical records of pediatric patients with myocarditis in a tertiary care referral hospital for over 12 years to identify the predictive factors of mortality. Demographics, presentation, laboratory test results, echocardiography findings, and treatment outcomes were obtained. Regression analyses revealed the clinical parameters for predicting mortality. During the 12-year period, 94 patients with myocarditis were included. Of these, 16 (17%) patients died, with 12 succumbing in the first 72 hours after admission. Fatal cases more commonly presented with arrhythmia, hypotension, acidosis, gastrointestinal symptoms, decreased left ventricular ejection fraction, and elevated isoenzyme of creatine kinase and troponin I levels than nonfatal cases. In multivariate analysis, troponin I > 45 ng/mL and left ventricular ejection fraction < 42% were significantly associated with mortality. Pediatric myocarditis had a high mortality rate, much of which was concentrated in the first 72 hours after hospitalization. Children with very high troponin levels or reduced ejection fraction in the first 24 hours were at higher risk of mortality, and targeting these individuals for more intensive therapies may be warranted.

Unilateral renal artery stenosis presented with hyponatremic-hypertensive syndrome - case report and literature review.

BACKGROUND: Renal artery stenosis is one of the secondary causes of pediatric hypertension. Cases with critical unilateral renal artery stenosis manifesting with the hyponatremic hypertensive syndrome are rare and a comprehensive description of this disorder in the pediatric population is lacking in the literature. CASE PRESENTATION: We describe a 4-year-old boy who presented with severe hypertension, profound hyponatremia, hypokalemia, nephrotic range proteinuria, and polyuria. Distinctly, the diagnosis of hyponatremic hypertensive syndrome secondary to unilateral renal artery stenosis was confirmed in light of laboratory and radiographic findings of severe natriuresis, elevated renin, and unilateral small kidney. Two weeks following nephrectomy, there was resolution of hyponatremia, hypokalemia, nephrotic range proteinuria and hypertension. CONCLUSIONS: Findings of hyponatremia, hypokalemia, hypertension, polyuria, and unilateral renal hypoplasia can be attributed to a unifying pathology of unilateral renal artery stenosis.

Efficacy of a Novel Palivizumab Prophylaxis Protocol for Respiratory Syncytial Virus Infection in Congenital Heart Disease: A Multicenter Study.

OBJECTIVE: To analyze the efficacy of a novel palivizumab protocol for hemodynamically significant congenital heart disease (hsCHD) in subtropical areas without clear respiratory syncytial virus seasonality. STUDY DESIGN: Since July 2013, the National Health Insurance program has provided reimbursement for palivizumab prophylaxis with a novel monthly protocol in selected patients with hsCHD under 1 year of age. We performed a multicenter study to assess the trend of respiratory syncytial virus hospitalizations in patients with hsCHD from 2010 to 2016 during the prepalivizumab, transition, and postpalivizumab periods, and compared treatment and propensity-matched control groups. RESULTS: A total of 747 patients were enrolled in the study group and 809 in the control group. The male:female was 836:720. Cyanotic CHD was observed in 42.9% of patients. The mean age at diagnosis of CHD was 32.9 days. After 516 685 patient-days of follow-up and a mean of 3.9 doses of palivizumab in the treatment group, respiratory syncytial virus hospitalization rates decreased by 53% and 49% before and after match compared with the control group (P = .009 and .029, respectively). Hospitalization days and intensive care unit admission rate also decreased similarly in the treatment group. The efficacy of this protocol was more prominent in patients with cyanotic hsCHD. The annual respiratory syncytial virus-associated hospitalization rates also decreased significantly from the prepalivizumab to the palivizumab period (from 4.8% to 2.0%; P = .038). CONCLUSION: Palivizumab prophylaxis through the novel monthly protocol for patients with hsCHD is effective in reducing respiratory syncytial virus-related hospitalizations.

Initial validation of a healthcare needs scale for young people with congenital heart disease.

AIM: To validate the initial psychometric properties of a Healthcare Needs Scale for Youth with Congenital Heart Disease. BACKGROUND: As the number of patients with congenital heart disease surviving to adulthood increases, the transitional healthcare needs for adolescents and young adults with congenital heart disease require investigation. However, few tools comprehensively identify the healthcare needs of youth with congenital heart disease. DESIGN: A cross-sectional study was employed to examine the psychometric properties of the Healthcare Needs Scale for Youth with Congenital Heart Disease. METHODS: The sample consisted of 500 patients with congenital heart disease, aged 15-24 years, from paediatric cardiology departments and covered the period from March-August 2015. The patients completed the 25-item Healthcare Needs Scale for Youth with Congenital Heart Disease, the questionnaire on health needs for adolescents and the WHO Quality of Life-BREF. Reliability and construct, concurrent, predictive and known-group validity were examined. RESULTS: The Healthcare Needs Scale for Youth with Congenital Heart Disease includes three dimensions, namely health management, health policy and individual and interpersonal relationships, which consist of 25 items. It demonstrated excellent internal consistency and sound construct, concurrent, predictive and known-group validity. CONCLUSION: The Healthcare Needs Scale for Youth with Congenital Heart Disease is a psychometrically robust measure of the healthcare needs of youth with congenital heart disease. It has the potential to provide nurses with a means to assess and identify the concerns of youth with congenital heart disease and to help them achieve a successful transition to adult care.

The effects of corrective surgery on endothelial biomarkers and anthropometric data in children with congenital heart disease.

Objective To investigate the influence of surgical correction on biomarkers of endothelial dysfunction in children with congenital heart disease and to evaluate anthropometric data. Methods Children with pulmonary hypertension (PH) or Tetralogy of Fallot (TOF) who were scheduled for corrective surgery were enrolled in this prospective study. Age-matched healthy children were included as controls. Demographic, haemodynamic and cardiac ultrasonography data were collected. Blood samples were taken pre-surgery, 24-48 hours post-surgery and again 3-6 months later. Several biomarkers (protein C, soluble platelet selectin [CD62P], soluble endothelium selectin [CD62E], soluble leukocyte selectin [CD62L], plasma von Willebrand Factor [vWF] atrial natriuretic peptide [ANP], brain natriuretic peptide[(BNP] and insulin-like growth factor-1 [IGF-1]) were measured. Results Sixty-three children (32 with PH, 15 with TOF, and 16 controls) were enrolled. No significant differences between the PH and TOF groups were observed in the expression of biomarkers pre- and post-surgery. IGF-1 levels were closely related to anthropometric data, particularly those children with PH. Expression of IGF-1 and weight/height normalized after corrective surgery. Conclusions No significant endothelial dysfunction was observed in children with PH or TOF before or after corrective surgery. Significant retardation of growth, particularly weight, was found before surgery and may be related to IGF-1 suppression.

Factors Affecting Survival in Children With Pericardial Effusion After Hematopoietic Stem Cell Transplantation.

The objective of this study was to determine the incidence, risk factors, outcome, and clinical significance of pericardial effusion (PE). We retrospectively analyzed outcomes of 272 pediatric patients undergoing their first hematopoietic stem cell transplantation (HSCT) from 1998 to 2016. In total, 15% (3/20) and 5.9% (15/252) of autologous and allogeneic HSCT recipients, respectively, were identified with PE. However, there was no statistically significant difference in the incidence of PE between the 2 groups. The mean age at transplantation was 11.12 ± 5.41 y. Eighteen patients developed PE at 4.13 ± 4.44 mo after HSCT. PE was confirmed by echocardiogram in all patients. Three patients presented with severe PE with cardiac tamponade and required urgent pericardiocentesis. Overall survival (OS) rates for patients who developed PE were 83.3% and 38.9% at 100 d and 3 y, respectively, after HSCT. Death was not directly attributable to PE in patients who died in the first year after HSCT. Multivariable analysis identified the following variables to be associated with OS: PE (relative risk[RR]: 3.70; 95% confidence interval [95% CI]: 1.89-7.23; P < 0.001), active disease at HSCT (RR: 1.59; 95% CI: 1.02-2.49; P < 0.001), and thalassemia (RR: 0.62; 95% CI: 0.45-0.84; P < 0.001). PE is, thus, a debilitating and significant complication of pediatric HSCT. Therefore, prospective studies are required for better determination of the etiology and optimal method of PE treatment after HSCT.

Identifying patients with neutrophil elastase (ELANE) mutations from patients with a presumptive diagnosis of autoimmune neutropenia.

To differentiate severe congenital neutropenia (SCN) from autoimmune neutropenia (AIN) in patients with persistent neutropenia ≤1000/mm(3) over three months, we evaluated anti-neutrophil auto-antibodies, candidate genes of ELANA, HAX1 and GCSFR, and neutrophil elastase (NE) activity in 38 patients (21 females; average onset age 14.12 ± 2.49 months) in a primary immunodeficiency disease center between 2004 and 2011. In 30 patients, detectable anti-neutrophil auto-antibodies were HNA1a in 16 patients, HNA1c in 15, MHC Class I in 14, HNA1b in eight, MHC Class II in five, and HNA2a in three. Their average neutropenia duration was 27.04 ± 2.08 months. Of eight patients without detectable auto-antibodies, three had ELANE mutations [Ser126Pro, Arg170Phe and Cys223stop] and recurrent muco-cutaneous infections and sepsis. The patient with nonsense ELANE mutation [Cys223stop] had the lowest NE activity (16.8). Thus, patients with ELANE mutations have undetectable antibodies and more severe and younger-onset muco-cutaneous infections, prolonged healing and decreased serum NE activity that require prompt intervention.

Pulmonary hypertension in a child with mitochondrial A3243G point mutation.

Mitochondrial diseases are a group of disorders caused by pathologic dysfunction of the mitochondrial respiratory chain that present with a wide range of clinical expression. Cardiorespiratory complications have previously been described in association with mitochondrial disease; however, pulmonary hypertension has rarely been reported. Pulmonary hypertension is characterized by elevated pulmonary arterial pressure and secondary right ventricular failure. It is a life-threatening condition with a poor prognosis if untreated. We report a case of 3-year-4-month-old boy who had mitochondrial A3243G point mutation with pulmonary hypertension. The unusual features of our case strengthen the concepts of pulmonary hypertension should be considered as another potential manifestation of mitochondrial disease.