Isolated right ventricular apical hypoplasia with atrial fibrillation in a young female at her third trimester: a case report

Introduction

Advances in cardiac care have enabled a growing cohort of congenital heart disease (CHD) patients to reach adulthood. Pregnancy poses significant physiological stresses, amplifying maternal and fetal risks in this population. Complications such as heart failure, arrhythmias, and cardiac deterioration may substantially increase morbidity and mortality for both mother and infant (1). Consequently, cardiologists, obstetricians, anesthesiologists, and pediatricians require comprehensive awareness of adult CHD manifestations and associated gestational hazards. A multidisciplinary approach to pregnancy management in these women is imperative.

Isolated ventricular apical hypoplasia (IVAH), a rare congenital heart disorder, is clinically manifestated ranging from non-specific symptoms to congestive heart failure or malignant arrhythmia, and even sudden death (2). Pregnancy complicated with IVAH is even rarer. Notably, a recent report described a successful pregnancy in a woman with isolated right ventricular hypoplasia without an atrial septal defect, highlighting the potential for favorable outcomes under specific conditions (3). The referenced case described a relatively stable course without pulmonary hypertension or overt heart failure symptoms. Herein, we report a case of a primigravida with isolated right ventricular apical hypoplasia (IRVAH) and associated complications, emphasizing the role of multidisciplinary care in achieving positive maternal and neonatal outcomes. Both cases involve women with isolated right ventricular hypoplasia without associated atrial septal defects, underscoring the rarity and potential viability of such conditions during pregnancy. However, our case presented with additional complexities, including paroxysmal atrial fibrillation (AF), fetal growth restriction, and the necessity for multidisciplinary management with pharmacological intervention and preterm delivery.

This comparison highlights the spectrum of clinical presentations in IRVAH and emphasizes that while some patients may experience minimal complications, others require intensive, individualized monitoring and intervention to mitigate risks. Our findings thus expand the existing literature by illustrating how comorbid arrhythmias and fetal issues can influence outcomes, reinforcing the need for tailored approaches in this population. We present this article in accordance with the CARE reporting checklist (available at https://gpm.amegroups.com/article/view/10.21037/gpm-25-27/rc).

Case presentation

All procedures performed in this study were in accordance with the ethical standards of the ethics committee of West China Second Hospital and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

A woman in 28 years old [height 159 cm, body weight 55 kg, blood pressure (BP) 94/64 mmHg] with 28 gestational weeks was accidentally found with structural right heart enlargement and paroxysmal AF, and then transferred to our hospital on December 11, 2023. The patient was asymptomatic and had no previous history of palpitations, syncope, or respiratory distress.

A routine cardiac ultrasound imaging (Figure 1A) in her 28 gestational weeks revealed suspected abnormalities with enlarged right heart, especially the right atrium, thinner anterior wall of right ventricle, and severe tricuspid regurgitation. No obvious papillary network was found in the right ventricle. Left ventricular and right ventricular systolic function were slightly weakened. Pulse oxygen saturation (SpO₂) was maintained above 95%. Additional findings included an enlarged inferior vena cava with a post-hepatic segment diameter of 22 mm with a collapse of 18.6% during inspiration, accompanied by hepatic congestion and reduced blood flow in the veins of both lower limbs. The irritation of jugular vein was not obvious. Electrocardiogram (ECG; Figure 1B) showed paroxysmal AF and ventricular tachycardia with junctional premature beat. The patient denied family history of CHD. Since right ventricular cardiomyopathy was suspected, a cardiomyopathy-associated genetic test was prescribed and revealed a heterozygous variation of RYR2 c.6773G>A locus. Laboratory evaluation encompassing routine blood work, blood gas analysis, electrolytes, coagulation function, D-dimer, thyroid function, creatine kinase (CK), CK-MB, and cardiac troponin (CTn) showed unremarkable. The blood brain natriuretic peptide (BNP) level was 274 pg/mL (reference range, 0–100 pg/mL) upon admission (Figure 1C).

Figure 1 Key diagnostic findings and clinical timeline. (A) Cardiac ultrasound showed suspected abnormalities with enlarged right heart, especially the RA, thinner anterior wall of RV, and severe tricuspid regurgitation. (B) ECG showed paroxysmal AF and ventricular tachycardia with junctional premature beat. (C) The blood BNP level in different times. BNP was 274 pg/mL (reference range, 0–100 pg/mL) upon admission, arised gradually, peaked at 496 pg/mL before cesarean delivery, and returned to normal within 1 week postpartum. (D) Cardiac magnetic resonance showed the flat shape of RV, the missing normal right ventricular apex structure, and a truncated and spherical RV configuration with leftward bulging of the interventricular septum. (E) Flowchart summarizing the timeline of patient’s diagnostic workup, monitoring, interventions, postoperative course, and follow-up. AF, atrial fibrillation; aVF, augmented vector foot; aVL, augmented vector left arm; aVR, augmented vector right arm; BNP, brain natriuretic peptide; ECG, electrocardiogram; GD, gestational days; IRVAH, isolated right ventricular apical hypoplasia; LA, left atrium; LV, left ventricle; MR, magnetic resonance; RA, right atrium; RV, right ventricle.

The first step is to identify the type of heart disease to facilitate management. Cardiac magnetic resonance (Figure 1D) was performed to exclude the primary cardiomyopathy on December 18, 2023. The decreased contractile function of the right heart may be secondary to IRVAH. IRVAH is a rare type of CHD. Despite the definitive diagnosis, there are no relevant guidelines and consensus on pregnancy risk classification currently. From the perspective of moderate to severe right heart dysfunction, according to the 2019 American College of Obstetricians and Gynecologists (ACOG) pregnancy risk classification of heart disease (4), this case belongs to grade IV and pregnancy contraindications. The patient and her husband had a strong request for pregnancy continuation. After consultation with the cardiology department, grade II was assessed in this patient according to the New York Heart Association (NYHA) classification of cardiac function (5,6).

Management was guided by multidisciplinary consensus (ultrasound, radiology, obstetrics, cardiology, cardiac surgery, and anesthesiology departments), initiating stabilization with oral metoprolol (12.5 mg per dose, twice daily) for heart rate control <110 bpm. Pregnancy prolongation strategies included weekly fetal growth scans, daily maternal SpO₂/BP monitoring, and steroid coverage at 30 weeks for fetal lung maturation with dexamethasone (6 mg, administered intramuscularly every 12 hours for a total of 4 doses).

Due to maternal AF recurrence despite therapy, fetal growth restriction (<10^th percentile), and the need to avoid hemodynamic stress from labor, an elective cesarean delivery was scheduled at 32 weeks (January 8, 2024) under continuous epidural anesthesia. Intraoperative invasive BP monitoring was performed through the radial artery. Intraoperative analgesia was achieved via epidural administration of a 0.5% ropivacaine and 0.5% lidocaine mixture. Postoperatively, intravenous patient-controlled analgesic was initiated using a solution of 20 mg oxycodone hydrochloride diluted in 50 mL of normal saline, delivered at a basal infusion rate of 2 mg/h. Intraoperative BP with mean arterial pressure maintained between 65 and 85 mmHg for most of the procedure. No sustained hypertension or refractory hypotension was observed throughout the 41-minute procedure. The mother’s frequently occurring postoperative AF was effectively managed with an escalated oral metoprolol regimen of 25 mg twice daily. Following delivery, close monitoring of vital signs is recommended, alongside optimized volume management and maintenance of a negative fluid balance. Diuresis should be achieved through the administration of spironolactone in combination with furosemide, with concurrent potassium supplementation to prevent fluid and sodium retention, electrolyte disturbances as well as arrhythmias; serum potassium levels should be maintained within the range of 4.0–5.0 mmol/L. Prophylaxis against infections and termination of lactation are recommended. Serum BNP levels rose after admission, peaked at 496 pg/mL before cesarean delivery, and gradually returned to normal within 1 week postpartum (Figure 1D). The 32-week preterm infant weighed 1,580 g at birth, had Apgar scores of 9 at 1 minute and 10 at 5 minutes, and was transferred to the neonatal intensive care unit (NICU). The neonatal echocardiogram revealed a patent foramen ovale (PFO) and patent ductus arteriosus (PDA), with no other cardiac structural abnormalities identified. The preterm infant was discharged from the NICU on the 39^th day with a weight of 2,720 g. The patient underwent structured telephone follow-ups at 1, 3, and 6 months postpartum. Based on standardized questionnaires, she remained asymptomatic without pharmacotherapy, and her cardiac function stayed stable at NYHA class I. The infant also showed normal development without any observed delays (Figure 1E).

Discussion

Core challenges in this case were identified as: distinguishing it from primary cardiomyopathy, obtaining definitive radiological confirmation of IRVAH using advanced echocardiography and cardiac magnetic resonance imaging (MRI), and dynamically evaluating pregnancy prolongation, given the lack of guideline-based risk stratification.

IVAH exhibits marked variability in clinical presentation among different individuals, spanning from non-specific symptoms to life-threatening conditions like malignant arrhythmias, congestive heart failure, and in severe cases, even sudden cardiac death (7). Key radiological characteristics of IVAH include: (I) truncation of the affected ventricle, with the interventricular septum bulging toward the non-affected side; (II) anomalous origin of the papillary muscle network from the truncated apex; (III) the elongated non-affected ventricle encircling the defective apex of the affected ventricle; and (IV) fatty infiltration of the affected ventricular apex (8). Our IRVAH case displayed the first three of these features. IVAH is a rare CHD, and its prevalence remains largely unknown. Previous studies have reported IRVAH appears to be significantly rarer than ILVAH (9).

After excluding primary cardiomyopathy, definitive diagnosis requires differentiation from other disorders. The differential diagnoses of IRVAH mainly included: hypoplastic right heart syndrome (HRHS), Ebstein anomaly, Uhl’s anomaly, and right ventricular endomyocardial fibrosis (EMF) (8). The current patient showed no cyanosis (resting SpO₂ 97%) or echocardiographic features of HRHS (e.g., tricuspid/pulmonary valve dysplasia, right ventricular hypoplasia, or atrial septal defect). Normal valve morphology, low pulmonary gradient (8 mmHg), and an intact atrial septum ruled out HRHS, which typically presents with cyanosis and right-sided structural hypoplasia. In Ebstein anomaly, apical displacement and dysplasia of the tricuspid valve with arterialized right ventricle led to severe valvular dysfunction. However, our patient exhibited normal tricuspid valve, mild regurgitation, and relatively intact right ventricle (no arterialization, preserved systolic function). These findings, lacking the diagnostic hallmarks of Ebstein anomaly, definitively exclude the diagnosis. Uhl’s anomaly is characterized by partial/complete absence of right ventricular myocardium, resulting in direct endocardial-epicardial apposition and right ventricular dysfunction. Our patient’s cardiac MRI revealed preserved right ventricular myocardial thickness (average, 4 mm; normal range, 3-5 mm), distinct trabecular pattern in the mid-right ventricular and basal segments, and normal RV outflow tract dimensions (28 mm, Z-score 0.5). There was no evidence of myocardial absence or “ironed-out” endocardial-epicardial apposition, eliminating Uhl’s anomaly as a possibility. Right ventricular EMF is an idiopathic restrictive cardiomyopathy characterized by fibrous tissue deposition in the right ventricular apex and endocardium, typically presenting with short and plump right ventricular morphology, dilated right atrium, apical thrombus obstruction, and right ventricle not wrapped by the left ventricle. In contrast, our patient showed no endocardial fibrosis on cardiac magnetic resonance, no apical thrombus, focal right ventricular apical hypoplasia, mild right atrium dilation, but lacking EMF’s global right ventricular remodeling. These findings definitively exclude EMF. Particularly, enhanced ventricular endocardial echo could distinguish it from ILVAH (8).

Evidence-based treatment guidelines for IVAH have not yet been established, let alone pregnancy complicated with IVAH. In the present case, the patient exhibited mild clinical manifestations, demonstrating favorable diuretic responsiveness with rapid resolution of hepatic congestion and heart failure, along with effective arrhythmia prophylaxis. As was reported, except for diuretics, low-dose β-adrenergic receptor antagonists combined with angiotensin-converting enzyme (ACE) could maintain sinus rhythm and reduce the grade of heart failure in several cases (10-12). Besides, papillary muscle abnormalities originating from apical dysplasia may lead to varying degrees of atrioventricular regurgitation, which can be corrected surgically (13). In this case, the Department of Cardiology Surgery recommended postpartum dynamic evaluation whether there is surgery indication for connecting elective tricuspid valve with superior vena cava pulmonary artery. More severely, cardiac transplantation may be needed in patients with heart failure, particularly before irreversible pulmonary hypertension is developed. However, no case of cardiac transplantation has been reported.

The patient underwent structured telephone follow-up assessments at 1-, 3-, and 6-month postpartum. Cardiac function was evaluated as grade I using the NYHA classification system, based on standardized symptom questionnaires administered during these calls. Since the patients from remote geographical locations and significant socioeconomic barriers that restricted access to specialized healthcare services, this study is limited by the absence of standardized postpartum cardiac assessments (ECG and echocardiography at 6 weeks and 6 months), though serial BNP measurements provided indirect functional monitoring. However, the significant decline in BNP levels provided key biochemical evidence of improving cardiac function.

Conclusions

In conclusion, IVAH is a rare CHD. Accurate diagnosis is the most important part by echocardiography or cardiac magnetic resonance if necessary. Peripartum surveillance in IVAH-positive pregnancies should prioritize early detection of acute hemodynamic deterioration, right ventricular afterload elevation, and sudden cardiac death-predisposing rhythms. The woman sustained pregnancy to 32 weeks gestation as planned and gave birth to a healthy premature baby. She has been discharged from hospital for 6 months. The patient underwent structured surveillance without pharmacological intervention and maintained an asymptomatic clinical course. Expanding case ascertainment and extended follow-up enable deeper characterization of disease behavior and refinement of evidence-based management in this cardiomyopathy.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://gpm.amegroups.com/article/view/10.21037/gpm-25-27/rc

Peer Review File: Available at https://gpm.amegroups.com/article/view/10.21037/gpm-25-27/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://gpm.amegroups.com/article/view/10.21037/gpm-25-27/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the ethics committee of West China Second Hospital and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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