Mother Zhuxing struggled to recall the words of the attending physician. It was extremely difficult for her, as her mind was already exhausted to the point of shutting down.
The doctor could only help the family recall the key points concerning the child’s life, word by word: "Zhu Xing’s heart has dilated like a ball. In his case, the condition can only grow more severe, and given today’s situation, we must consider a heart transplant for him."
Heart dilation, at first glance, seems like the dilated cardiomyopathy we discussed before. Dilated cardiomyopathy is one type of myocardial disease.
Myocardial diseases are categorized into primary and specific (secondary). The concept of categorizing primary and secondary is consistent with other diseases, so I will not elaborate further.
Dilated cardiomyopathy is classified as primary, but there are many types of primary myocardial diseases beyond dilated cardiomyopathy. Little Zhu Xing’s heart dilation is due to primary myocardial disease, but it is not the type of dilated cardiomyopathy we’ve discussed before; instead, it is a genetic myocardial disease called congenital noncompaction cardiomyopathy.
This illness is quite rare.
Why is it rare? Because its symptoms are either very hidden, existing within the patient without manifesting, or the patient is already in a severe condition once symptoms appear. The peculiarity of this disease is that it cannot be detected through routine check-ups like EKGs or conventional auscultation. To detect it, more sophisticated instruments are required, including echocardiograms, MRIs, CT scans, etc. If the patient shows no symptoms, who would proceed with these further examinations? No one would, which leads to the practical difficulty for doctors in detecting it early on.
What kind of disease is this? Since it is genetic, tracing its roots leads to the dominant or recessive inheritance of pathogenic human genes. Many patients have a familial history of the disease, with issues occurring during the embryonic development of their hearts.
Our hearts lack coronary arteries during the first month of embryo development. At this time, the myocardium mainly consists of trabeculae and recesses, with blood supply relying on the recesses. These structures, in pathological terms, belong to the non-compacted layer of the ventricular wall. In normal embryonic development, by the fifth or sixth week, the non-compacted layer becomes compacted, developing into the epicardium and endocardium, while the recesses compress to form the coronary artery system.
For patients with noncompaction cardiomyopathy, myocardial compaction fails during this development period, resulting in a pathological thickening of the non-compacted layer of the ventricular wall. Consequently, the patient’s myocardium primarily consists of trabeculae and recesses throughout life, resembling a sponge with intersecting networks of grooves. Hence, this disease is also known as spongy myocardium.
Spongy myocardium can be an isolated disease with these symptoms or be accompanied by other cardiac deformities. In pediatrics, isolated noncompaction cardiomyopathy predominates.
Zhu Xing is a typical case of isolated congenital noncompaction cardiomyopathy. Moreover, his father died suddenly, possibly due to the same disease.
In summary, the deadliest aspect of this disease is that if the diseased area is small, the patient can have normal cardiac function for a long time, misleading both the patient and the doctor. When it manifests, the diseased area becomes extensive, causing heart failure, which progressively worsens into refractory heart failure and severe arrhythmia. Like Zhu Xing, whose heart has dilated into a ball-shaped structure, it is completely irreversible. Similar to dilated cardiomyopathy, surgical procedures on the existing heart can only change the structure but cannot correct the diseased myocardium. The only life-saving option remaining is a heart transplant.
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