Absent pulmonary valve syndrome is among the rarest of congenital cardiac anomalies. It is defined by the absence, or severe underdevelopment, of the pulmonary valve, the one-way gate that normally prevents blood from flowing backward from the pulmonary artery into the right ventricle. Without that valve, every heartbeat drives blood forward through a narrowed outflow tract and then lets it slosh backward in diastole, hammering the pulmonary arteries from both directions. The result is the condition’s signature finding: massive, sometimes aneurysmal dilation of the pulmonary arteries and their branches, which in the confined space of the fetal thorax can compress the airways and crowd out the surrounding structures. Precise incidence figures are difficult to pin down, but recent reviews suggest that absent pulmonary valve syndrome accounts for roughly 0.2 to 0.4 percent of all congenital heart disease, and that among fetuses diagnosed prenatally, more than 84 percent occur in association with tetralogy of Fallot, the classic conotruncal defect combining a ventricular septal defect, an overriding aorta, right ventricular outflow obstruction, and right ventricular hypertrophy.

The prognosis for fetuses diagnosed with this physiology before birth is sobering. In one series of 37 prenatally diagnosed fetuses, survival after initial diagnosis was only about 37 percent overall, with survival of roughly 30 percent for the tetralogy-associated variant. Against that backdrop, the new case report adds an unusual twist: the fetal heart was not only burdened by a suspected absent pulmonary valve but was also positioned abnormally, with dextrocardia, a rightward orientation of the cardiac apex within a normally positioned abdominal situs. Isolated dextrocardia of this kind is itself rare and is reported to be accompanied by complex intracardiac defects in the vast majority of cases, carrying a worse outlook than the mirror-image variety. The combination of a conotruncal malformation, absent pulmonary valve physiology, and dextrocardia in a single fetus is exceptionally uncommon, and the authors present it as a contribution to the limited literature on the prenatal natural history of this cluster of anomalies.

The mother was a 33-year-old woman in her second pregnancy, referred at 24 weeks of gestation for fetal cardiac evaluation. She carried a diagnosis of pre-gestational diabetes mellitus with demonstrably suboptimal glycemic control; her hemoglobin A1c at admission was 8.3 percent, well above the thresholds associated with elevated risk of fetal malformation. No additional maternal risk factors were identified. The referral triggered a comprehensive fetal echocardiographic workup using two-dimensional imaging, M-mode, color Doppler, and spectral Doppler, the full modern toolkit of prenatal cardiac diagnosis, and it is the meticulous serial documentation that gives this report much of its scientific value.

The initial scan at 24 weeks established the anatomy in detail. The fetal heart sat with a rightward apex, consistent with isolated dextrocardia. The main pulmonary artery was already markedly dilated, measuring 15 millimeters, and Doppler interrogation demonstrated both pulmonary stenosis and significant pulmonary regurgitation, with diastolic retrograde flow visible in the main pulmonary artery. The right ventricular free wall appeared hypertrophied, and imaging of the left ventricular outflow tract revealed a large subaortic ventricular septal defect with an overriding aorta, findings squarely compatible with a conotruncal anomaly on the tetralogy spectrum. Imaging of the pulmonary valve region showed only rudimentary ridges where normal leaflets should have been, the echocardiographic hallmark of the absent pulmonary valve variant. At that stage the fetus showed no signs of hydrops, and umbilical Doppler indices remained normal, suggesting that despite the severity of the anatomy, the circulation was still compensating.

What followed over the next four weeks was a documented unraveling of that compensation. Serial scans tracked the main pulmonary artery as it ballooned from 15 millimeters at 24 weeks to 18 millimeters at 26 weeks and 21 millimeters at 28 weeks. The cardiothoracic ratio, a measure of heart size relative to the chest, climbed from roughly 70 to 75 percent to as high as 80 percent, reflecting progressive biventricular hypertrophy and massive cardiomegaly. Doppler velocities across the stenotic, regurgitant pulmonary outflow rose in parallel. Then, at 27 weeks, the fetal echocardiogram revealed the development of hydrops fetalis, the accumulation of fluid in body cavities that signals decompensated cardiac failure. Bilateral pleural effusions appeared, followed by marked ascites. In structural fetal heart disease, the onset of hydrops is one of the most powerful adverse prognostic markers known, reflecting elevated central venous pressures and ventricular dysfunction, and reported series consistently show sharply increased fetal and neonatal loss once it supervenes.

Management options, the authors explain, were limited from the start. Given the complexity of the defects and the rapidly evolving hydrops, no intrauterine cardiac intervention was deemed feasible. The team instead pursued close surveillance with repeat echocardiography and intensive counseling of the parents about prognosis and potential perinatal outcomes. Despite maximal expectant management, the pregnancy ended at 30 weeks with intrauterine fetal demise secondary to progressive hydrops. Notably, by that point the mother’s HbA1c had improved to 6.6 percent, but the critical period of embryonic cardiac development had long since passed. Genetic assessment was incomplete: amniocentesis was not technically feasible because of the patient’s delayed presentation, although noninvasive prenatal testing had shown no evidence of trisomy 13, 18, or 21. The authors acknowledge that the absence of postmortem examination means the precise intracardiac anatomy, particularly the suspected absent pulmonary valve variant, could not be definitively confirmed, and that 22q11.2 deletion and other genetic contributors remain unassessed.

The mechanistic link to maternal diabetes is one of the most scientifically interesting dimensions of the case. Pre-gestational diabetes is a well-established, non-inherited risk factor for congenital heart disease, with particularly strong associations for conotruncal defects, exactly the spectrum observed here. The leading explanation involves hyperglycemia-driven oxidative stress during cardiac morphogenesis, the window in early pregnancy when the heart takes shape. Experimental models and human observational studies have repeatedly shown that elevated glucose impairs the survival and migration of cardiac neural crest cells, a transient embryonic cell population essential for septating the outflow tract and remodeling the aorticopulmonary structures, and disrupts endocardial cushion development. Population data reinforce the dose-response relationship: compared with normal HbA1c, values above 8 percent confer roughly a fourfold higher risk of major congenital heart disease, and even modest elevations above about 5.6 percent increase risk. Across large cohorts, pre-gestational diabetes raises the risk of all congenital heart defect subtypes, with the greatest excess for outflow-tract defects. Emerging work also suggests genetic modifiers, including reduced NOTCH1 function, that may render some fetuses more vulnerable to maternal hyperglycemia, hinting at a gene-environment interaction that could one day refine risk stratification.

For clinicians, the case is a pointed argument for targeted early fetal echocardiography, typically performed between 18 and 22 weeks and earlier when feasible, in pregnancies at elevated risk, including all those complicated by pre-gestational diabetes. Early diagnosis enables comprehensive anatomic and rhythm assessment, serial surveillance for evolving ventricular hypertrophy, outflow obstruction, and heart failure, genetic counseling and testing for conditions such as 22q11.2 deletion, and multidisciplinary delivery planning at tertiary centers. It also opens the door to realistic counseling: in published cohorts of fetal dextrocardia, most cases involve complex heart disease, and outcomes range widely depending on associated defects. But the deepest lesson of this report lies upstream of any scanner. Once hydrops appears in structural fetal heart disease, therapeutic options in utero are few, and outcomes deteriorate dramatically. The single most effective intervention to prevent cases like this one happens before conception, through tight glycemic control and maternal education. This fetus’s heart, imaged in such painful detail as it failed, stands as a vivid scientific case study and, equally, as a public health message: the fourfold elevated risk carried by an HbA1c above 8 percent is modifiable, and the time to modify it is months before a positive pregnancy test, not at 24 weeks when the heart has already formed and the damage is done.

Subject of Research: Prenatal diagnosis of suspected tetralogy of Fallot with absent pulmonary valve syndrome and dextrocardia in a pregnancy complicated by pre-gestational diabetes mellitus

Article Title: Coexistence of Suspected Tetralogy of Fallot With Absent Pulmonary Valve and Dextrocardia in Pre‐Gestational Diabetes Mellitus: A Case Report

Article References: Golbabaei, A., Kahani, V., & Mousivand, M. (2026). Coexistence of Suspected Tetralogy of Fallot With Absent Pulmonary Valve and Dextrocardia in Pre‐Gestational Diabetes Mellitus: A Case Report. Clinical Case Reports, 14(10), Article e73597. https://doi.org/10.1002/ccr3.73597

Image Credits: AI Generated

DOI: 10.1002/ccr3.73597

Keywords: tetralogy of Fallot, absent pulmonary valve syndrome, dextrocardia, pre-gestational diabetes, fetal echocardiography, congenital heart disease, hydrops fetalis, conotruncal defect, HbA1c, neural crest cells, intrauterine fetal demise, prenatal diagnosis

The details of the patient’s presentation underscore just how easily the condition can hide in plain sight. For about a week before seeking care, he had been expectorating blood-tinged sputum accompanied by a mild cough. The bleeding was intermittent and never reached massive, life-threatening volumes. Looking back, he recalled two mild respiratory tract infections during the previous year, both treated symptomatically without any formal diagnostic workup. He also described occasional mild chest pain during exertion, though it was never severe enough to limit his daily activities. He had no history of tuberculosis, asthma, chronic bronchitis, or heart disease, and his vital signs on admission were entirely within normal limits. The only physical clue was a wheeze localized to the left side of his chest on auscultation.

Contrast-enhanced computed tomography of the chest provided the answer, and it was striking. The scan showed complete absence of the left pulmonary artery, with a reduced-volume left lung being fed not by the normal arterial circuit but by an intricate network of systemic collateral vessels—alternative blood supply routes that had grown up over decades to compensate for the missing vessel. The right lung had hyperinflated to fill the gap, pushing the mediastinum slightly across the midline, a phenomenon known as mild mediastinal herniation. The left lung itself displayed smooth interlobular septal thickening and emphysematous changes, likely reflecting years of chronic hypoperfusion and post-inflammatory remodeling. Adding to the rarity of the picture, the scan revealed a right-sided aortic arch with a variant branching pattern, an associated anatomical quirk that occurs when the aortic arch develops on the opposite side from usual.

To understand how a person can be born without a major artery, one has to look at embryology. The pulmonary arteries originate from the sixth aortic arch, one of a series of paired vascular structures that remodel dramatically during early development. Between the fifth and sixth weeks of gestation, the proximal portion of the sixth arch must connect normally with the pulmonary trunk. When this connection fails, the proximal pulmonary artery never forms, while the distal intrapulmonary arterial branches may persist as small, hypoplastic vessels dependent entirely on collateral circulation. The anomaly was first described in 1868 by the German physician Fräntzel, and in the roughly century and a half since, only about 420 cases have been documented in the medical literature. In approximately 67 percent of cases, it is the right pulmonary artery that is absent; left-sided agenesis is less common and more frequently accompanied by additional cardiovascular malformations such as the right-sided aortic arch seen in this patient.

The clinical course of the condition is remarkably variable. Some patients remain completely asymptomatic throughout life, while others present in infancy with serious associated cardiac defects such as tetralogy of Fallot, ventricular septal defect, or transposition of the great vessels—cases that are typically diagnosed and surgically corrected within the first year of life. Among adults, roughly 40 percent present with exertional dyspnea, and about 20 percent develop hemoptysis or pulmonary hypertension. Other manifestations include chest pain, pleural effusion, and recurrent pulmonary infections. The bleeding that brought this patient to medical attention has a well-defined mechanistic explanation: deprived of a normal pulmonary arterial supply, the affected lung receives blood from bronchial arteries in about 70 percent of cases, and from the phrenic, intercostal, and internal thoracic arteries in roughly 40 to 50 percent each. Over time these collateral vessels hypertrophy under the abnormal workload, and their fragile, enlarged walls can rupture, producing hemoptysis that ranges from trivial to catastrophic.

Chronic hypoperfusion does more than set the stage for bleeding. The under-perfused lung becomes hypoplastic, with diminished vascularity and impaired mucociliary clearance—the conveyor-belt system of cilia and mucus that normally sweeps pathogens out of the airways. This explains the patient’s history of repeated chest infections and contributes to the emphysematous changes visible on his scan. Meanwhile, the healthy lung, forced to handle the entire cardiac output on its own, faces increased blood flow through its lone pulmonary artery, which can gradually lead to pulmonary hypertension, one of the most feared long-term complications of the condition. Transthoracic echocardiography in this patient found no evidence of elevated pulmonary artery pressures and no additional cardiac anomalies, a reassuring finding that shaped the treatment decision.

Reaching the correct diagnosis is not always straightforward, because several other conditions can produce a small lung with reduced or absent arterial flow. Hypogenetic lung syndrome, also called scimitar syndrome, features right lung hypoplasia together with an anomalous pulmonary vein draining into the systemic circulation—features absent here. Swyer–James–MacLeod syndrome, a consequence of post-infectious obliterative bronchiolitis, produces a hyperlucent, air-trapping lung rather than complete arterial absence. Chronic pulmonary embolism can shrink or occlude a pulmonary artery, but in contrast to congenital absence, the proximal vessel remains present, often showing narrowed contours, intraluminal thrombus, eccentric wall thickening, webs, bands, or calcifications. Chest radiography is usually the first test performed and can offer telling hints: a small hemithorax on the affected side, shift of the mediastinum toward it, absent hilar vasculature, diminished pulmonary markings, and compensatory hyperinflation of the opposite lung. Definitive diagnosis, however, rests on contrast-enhanced CT or MRI, which directly visualizes the missing vessel. Pulmonary angiography remains the historical gold standard but is now rarely required thanks to noninvasive imaging.

Management in this case was deliberately conservative. Because the hemoptysis was mild, the patient was hemodynamically stable, and echocardiography showed no pulmonary hypertension, his physicians opted for regular clinical follow-up with periodic echocardiography to monitor for the development of elevated pulmonary pressures. At his most recent follow-up, he remained clinically stable with no recurrence of bleeding. This measured approach is consistent with the spectrum of outcomes reported in other adults. A 67-year-old man with left-sided agenesis and massive hemoptysis was managed with observation after detailed angiographic planning, with embolization and surgery held in reserve. By contrast, a 35-year-old man and an adult woman with right-sided agenesis who developed massive hemorrhage four years after diagnosis both required pneumonectomy—surgical removal of the affected lung—the latter complicated by a bronchopleural fistula. Milder presentations have also been described, including a 24-year-old with hemoptysis and cough after a repaired ventricular septal defect, and a 55-year-old woman managed conservatively with oxygen and pulmonary vasodilators for dyspnea and hypertension.

When intervention does become necessary, the options are well characterized despite the absence of formal guidelines for adults, a gap created by the condition’s sheer rarity. Transcatheter arterial embolization is the preferred method for controlling significant hemoptysis: under fluoroscopic guidance, a catheter introduced through the femoral artery identifies the hypertrophied collateral vessels, and a microcatheter superselectively occludes the feeding vessels using polyvinyl alcohol particles, microspheres, coils, or gelatin sponge. Particles are favored for distal occlusion and coils for proximal control, though recurrence remains possible when new collateral vessels are recruited. Surgical options include lobectomy and pneumonectomy for refractory bleeding, recurrent infection, or severe hypertension, while revascularization procedures—which use autologous pericardium or synthetic materials to reconstruct the missing artery and promote lung growth—achieve better results in children than in adults. Long-term vasodilator therapy, including calcium channel blockers, phosphodiesterase-5 inhibitors, or prostacyclin analogs, can mitigate pulmonary hypertension, and combined heart-lung transplantation remains a last resort. The reported mortality rate for the condition hovers around 7 percent, driven largely by hemorrhage and pulmonary hypertension.

The broader lesson from this case is diagnostic humility. A man in his mid-fifties with an essentially clean medical history and nothing more than blood-streaked sputum turned out to be missing an entire great vessel, a structure his body had quietly routed around for decades. The authors emphasize that unexplained hemoptysis, recurrent respiratory infections, or exertional breathlessness in an adult—even one with no cardiopulmonary history—should prompt clinicians to consider congenital vascular anomalies in the differential diagnosis, with advanced cross-sectional imaging serving as the decisive tool. Early recognition allows complications such as pulmonary hypertension and catastrophic bleeding to be anticipated rather than merely reacted to, and it underscores the value of patient education about warning symptoms and the importance of lifelong surveillance. For this patient, at least, the discovery came in time: he is stable, monitored, and finally aware of the extraordinary anatomical secret he had carried since before birth.

Subject of Research: Congenital unilateral pulmonary artery agenesis with right-sided aortic arch presenting as hemoptysis in an adult

Article Title: Congenital Absence of the Left Pulmonary Artery Associated With Right‐Sided Aortic Arch Presenting as Hemoptysis in an Adult: A Case Report

Article References: Kauser, T., Khan, A., Sattar, A., Hassan, S. M. S., Raza, M., Shahab, S. H., & Habib, F. (2026). Congenital Absence of the Left Pulmonary Artery Associated With Right‐Sided Aortic Arch Presenting as Hemoptysis in an Adult: A Case Report. Clinical Case Reports, 14(9), Article e73431. https://doi.org/10.1002/ccr3.73431

Image Credits: AI Generated

DOI: 10.1002/ccr3.73431

Keywords: pulmonary artery agenesis, hemoptysis, right-sided aortic arch, congenital heart defect, contrast-enhanced CT, systemic collateral vessels, pulmonary hypertension, transcatheter arterial embolization, pneumonectomy, case report, embryology, rare disease

The study, led by K.J. Eagleson, N.A. Kasparian, R.N. Justo and colleagues, focuses on families raising children with d-TGA. Its subject is particularly important because the condition often transforms an otherwise unexpected birth into an emergency requiring intensive care, specialized imaging and surgery within the first days of life. In many cases, clinicians perform an arterial switch operation, a procedure that reconnects the major arteries to restore a more typical pattern of blood flow. Although survival rates are now high in specialist centers, the experience can leave families facing prolonged uncertainty and ongoing medical surveillance.

Dextro-transposition occurs when the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. This arrangement creates two parallel circulatory loops rather than the normal series circuit. Blood returning from the body may be pumped back into the body without receiving enough oxygen, while oxygenated blood from the lungs may circulate repeatedly through the lungs. Survival immediately after birth depends on the presence of pathways that allow blood to mix, including the foramen ovale, ventricular septal defects or a patent ductus arteriosus. Doctors may use medications such as prostaglandin E1 to keep the ductus arteriosus open until corrective surgery can be performed.

For parents, the diagnosis can therefore arrive alongside highly technical language, urgent decisions and fear for a newborn who may be unable to remain in their arms. Families may be separated geographically, with a baby transferred to a cardiac center while parents organize transportation, work leave, childcare and financial support. Even after surgery, they may need to manage feeding difficulties, developmental monitoring, cardiology appointments and concerns about possible complications. The new paper places these experiences at the center of scientific attention, treating family adaptation not as a secondary issue but as a meaningful component of pediatric cardiac care.

In this context, resilience does not simply mean that parents remain positive or unaffected. In family health research, resilience is generally understood as a dynamic process through which individuals and family systems adapt to prolonged stress while preserving relationships, functioning and hope. It can involve communication, flexible problem-solving, access to social support, trust in clinicians and the ability to find meaning in an overwhelming experience. Resilience may also fluctuate. A family that appears strong during hospitalization may experience distress later, when the immediate crisis has passed and the long-term implications become clearer.

The focus on resilience is gaining momentum across medicine because survival alone does not fully describe recovery. Children with repaired d-TGA can require lifelong follow-up to monitor heart rhythm, ventricular function, valve performance and the condition of the major arteries. Many grow up active and well, but the need for periodic testing can remain a persistent reminder of the original diagnosis. Parents may also experience anxiety before medical appointments or struggle to judge which symptoms require urgent attention. Understanding how families cope could help clinicians identify those who need psychological support before distress becomes severe.

The report also highlights the importance of looking beyond the individual patient. A child’s treatment affects the entire family network, including siblings who may receive less parental attention during hospitalization and relatives who take on caregiving or financial responsibilities. Parents may respond differently to the same event, with one becoming focused on medical information and the other experiencing intense fear or emotional exhaustion. These differences can either create conflict or become complementary strengths when families receive appropriate guidance. Family-centered care aims to recognize these patterns and include parents as partners in decision-making without placing the burden of medical responsibility on them.

The implications extend to neonatal and pediatric cardiac teams. Technical excellence in surgery cannot by itself address the psychological consequences of a life-threatening diagnosis. Clear explanations, repeated opportunities to ask questions, access to mental-health professionals and coordinated follow-up may reduce the sense of isolation that families often report. Clinicians can also help parents distinguish expected recovery patterns from warning signs, making medical information more usable in everyday life. By considering resilience as an outcome worthy of assessment, hospitals may be better able to tailor support to families’ cultural, social and emotional circumstances.

At the same time, resilience should not be used to shift responsibility onto parents or to suggest that families who struggle have failed. Structural conditions—including healthcare costs, distance from specialist hospitals, language barriers, employment insecurity and unequal access to counseling—can strongly influence a family’s ability to cope. The value of the new study lies in directing attention toward these wider conditions while examining how families of children with d-TGA adapt over time. Its message is both medical and human: when a newborn’s circulation requires immediate repair, the family surrounding that child also enters a long-term journey that deserves evidence-based care.

Subject of Research: Families of children with dextro-transposition of the great arteries and the factors associated with family resilience.

Article Title: Resilience in families of children with dextro-transposition of the great arteries

Article References: Eagleson, K.J., Kasparian, N.A., Justo, R.N. et al. “Resilience in families of children with dextro-transposition of the great arteries.” Journal of Perinatology (2026). https://doi.org/10.1038/s41372-026-02767-x

Image Credits: AI Generated

DOI: https://doi.org/10.1038/s41372-026-02767-x

Keywords: dextro-transposition of the great arteries, congenital heart disease, family resilience, pediatric cardiology, neonatal care, arterial switch operation, parental mental health, family-centered care