Clinical Course of Suspected Diagnosis of Pulmonary Tumor Thrombotic Microangiopathy: A 10-Year Experience of Rapid Progressive Right Ventricular Failure Syndrome in Advanced Cancer Patients

Bak, Minjung; Kim, Minyeong; Lee, Boram; Kim, Eun Kyoung; Park, Taek Kyu; Yang, Jeong Hoon; Kim, Duk Kyung; Chang, Sung‐A

doi:10.4070/kcj.2022.0252

Cited by 3 publications

(1 citation statement)

References 33 publications

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“…[ 5 ] While such stenosis is also observed in conditions such as chronic thromboembolic pulmonary hypertension and pulmonary tumor thrombotic microangiopathy, the constriction in these instances stems from inflammatory reactions spurred by blood clots and malignant cells. [ 18 , 19 ] Differentiating these conditions using computed tomography, lung ventilator/perfusion scans, and other techniques is complicated. Therefore, diagnostics often rely on genetic testing and, where necessary, pulmonary angiography.…”

Section: Discussionmentioning

confidence: 99%

RNF213 vasculopathy manifested in various forms within a family: A case report

Lim,

Park,

et al. 2023

Medicine

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Rationale: The ring finger protein 213 (RNF213) p.R4810K variant has been identified as being associated with Moyamoya disease (MMD), a condition that is more prevalent in East Asians. This association extends beyond cerebral vessels and has been implicated in coronary artery disease. Patient concerns: A 36-year-old female was admitted to the emergency room with chest pain. Although the patient had no known underlying conditions or risk factors for atherosclerosis, she was diagnosed with unstable angina and underwent percutaneous coronary intervention. Given her older sister’s ongoing treatment for MMD, it was suspected that the patient’s coronary artery disease might be linked to the MMD-associated gene mutation. Diagnoses: Coronary angiography revealed 80% narrowing of the proximal left anterior descending artery. Based on clinical symptoms and coronary angiography, we diagnosed it as unstable angina. Intervention: Due to the family history of MMD and detection of the RNF213 p.R4810K heterozygous variant in the patient’s older sister, genetic counseling was recommended. Next-generation sequencing for vascular diseases was performed. Outcomes: Genetic testing confirmed the presence of an RNF213 p.R4810K heterozygous variant in the patient, mirroring that in her sister. An RNF213 p.C4397R heterozygous variant was identified concomitantly, although it was categorized as a variant of uncertain significance. Coronary artery disease has been attributed to the RNF213 p.R4810K variant. Lessons: Although MMD is rare in Western populations, it is more common in East Asian populations. Traditionally, MMD diagnoses have focused solely on the cerebral vessels without guidelines for the assessment of other vascular involvements. This familial case underscores the fact that a single genetic mutation can manifest in diverse ways in different diseases. Hence, the need and regularity of systemic vessel screening should be thoughtfully considered in such a context.

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Section: Discussionmentioning

confidence: 99%

RNF213 vasculopathy manifested in various forms within a family: A case report

Lim,

Park,

et al. 2023

Medicine

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Group 5 Pulmonary Hypertension: Multiple Systemic Diseases, Multiple Mechanisms of Pulmonary Hypertension, and Multiple Management Challenges

Barnett,

Brusca,

Kolaitis

et al. 2024

CRMR

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Group 5 pulmonary hypertension (PH) with unclear and/or multifactorial mechanisms includes a wide variety of conditions associated with PH, and the mechanisms by which PH develops vary dramatically depending on the underlying condition. Indeed, in many group 5 conditions, such as sarcoidosis, multiple distinct drivers of PH are present concurrently in a single patient, with the predominant factor depending on the predisposing disease phenotype. For this reason, thorough diagnostic evaluation to most accurately phenotype every patient with group 5 PH is essential. Treatment of these patients should begin by fully characterizing and optimizing the management of their underlying disease, often in conjunction with disease experts. Initial targets of PH treatment include identifying and correcting factors that worsen PH, such as volume overload and hypoxemia, as well as a complete PH evaluation, searching for other undiagnosed causes of PH (e.g., congenital heart disease or chronic thromboembolic disease). Data to guide treatment with PAH-specific therapies are inadequate for any specific recommendations, and adverse effects in group 5 patients are common. If these therapies are considered, evaluation by a multidisciplinary team that includes a PH specialist is recommended. Factors in the selection of PAH therapies should include consideration of the dominant physiologic features of the underlying disease, the severity of hemodynamic and right ventricular abnormalities, the risk of adverse drug effects, and any known contraindications to PAH-specific medications based on the underlying condition. Vigilant monitoring following initiation of PAH-specific therapy is critical, as the clinical effects are hard to predict, and untoward events, such as uncovering pulmonary veno-occlusive disease, may occur. Collaborative care by a multidisciplinary team of experts is key to the management of this challenging patient population.

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Pulmonary Tumor Thrombotic Microangiopathy: An Under-Recognized Potentially Fatal Cause of Pulmonary Hypertension

Kim

Jung

2023

Korean Circ J

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Clinical Course of Suspected Diagnosis of Pulmonary Tumor Thrombotic Microangiopathy: A 10-Year Experience of Rapid Progressive Right Ventricular Failure Syndrome in Advanced Cancer Patients

Cited by 3 publications

References 33 publications

RNF213 vasculopathy manifested in various forms within a family: A case report

RNF213 vasculopathy manifested in various forms within a family: A case report

Group 5 Pulmonary Hypertension: Multiple Systemic Diseases, Multiple Mechanisms of Pulmonary Hypertension, and Multiple Management Challenges

Pulmonary Tumor Thrombotic Microangiopathy: An Under-Recognized Potentially Fatal Cause of Pulmonary Hypertension

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