Continuous ECG with Systolic/Diastolic Fluctuation
Although the development of ultrasonography permits accurate delinea tion of normal heart anantomy and the diagnosis of numerous structual lesions of heart, for obtaining information sufficient to make a diagnosis of normal or abnormal cardiac structures or function, or both, a good qual ity echocardiographic examination is still necessary. Aim of this chapter is to help the beginner to know how to perform the operations by intraducing the basic examination techniques and by presenting the standard views, including the grayscale cross-sections of heart, the color and pulsed
Doppler adding physiolgic indictors to the anatomic images, section struc tures, measuring method, normal value and the clinical application value.
Definition: Niemann–Pick disease is a rare inherited lysosomal storage disorder caused by defects in lipid metabolism.
It leads to the accumulation of sphingomyelin or cholesterol within lysosomes of various cells, especially in the
liver, spleen, lungs, bone marrow, and brain. It is usually inherited in an autosomal recessive manner.
Classification: Niemann–Pick disease is divided into several types:
Type A (Infantile Neurovisceral)
• Cause: Deficiency of acid sphingomyelinase (ASM).
• Onset: Infancy.
• Features: Severe hepatosplenomegaly, failure to thrive, progressive neurodegeneration, cherry-red spot in macula (like in Tay–Sachs).
• Prognosis: Fatal, usually by 2–3 years of age.
Type B (Chronic Visceral)
• Cause: Partial ASM deficiency.
• Onset: Childhood/adolescence.
• Features: Hepatosplenomegaly, interstitial lung disease, normal or near-normal neurologic function.
• Prognosis: Many survive into adulthood.
Type C (Cholesterol Trafficking Defect)
• Cause: Mutation in NPC1 or NPC2 gene → impaired intracellular cholesterol transport.
• Onset: Variable (infancy to adulthood).
• Features: Hepatosplenomegaly, progressive neurodegeneration, vertical supranuclear gaze palsy (classic finding), ataxia, dystonia, dysarthria, psychiatric symptoms.
• Prognosis: Progressive, often fatal in childhood or adolescence, but later-onset cases survive longer.
Type D
• A variant of type C, described in the Nova Scotia population.
Pathophysiology:
• Type A & B: Accumulation of sphingomyelin due to acid sphingomyelinase deficiency.
• Type C/D: Accumulation of unesterified cholesterol & glycolipids due to defective intracellular trafficking.
• Characteristic finding: Foam cells (lipid-laden macrophages).
Clinical Features:
• Hepatosplenomegaly
• Pulmonary involvement (interstitial disease, recurrent infections)
• Neurological impairment (especially in type A & C)
• Failure to thrive
• Cherry-red macula spot (type A & some type C cases)
Diagnosis:
• Enzyme assay (ASM activity for types A & B)
• Genetic testing (NPC1, NPC2 mutations)
• Filipin staining of cultured fibroblasts (cholesterol storage, for type C)
• Bone marrow: Foam cells, sea-blue histiocytes
• Imaging: Organomegaly, lung infiltrates, cerebral atrophy
Treatment:
• Supportive care (nutrition, respiratory support, seizure control)
• Enzyme replacement therapy (ERT): Under research for ASM deficiency
• Substrate reduction therapy: Miglustat approved for type C
• Hematopoietic stem cell transplantation: Limited benefit
• Prognosis varies with type (worst in type A, better in type B, variable in type C)
Definition: Hepatomegaly refers to an abnormal enlargement of the liver beyond its normal size.
It is usually assessed clinically by palpation and percussion, and confirmed by imaging
(e.g., ultrasound, CT, MRI). On ultrasound, hepatomegaly is diagnosed when the
liver span exceeds the normal reference values (generally >150 mm (for adult) in the midclavicular line in adults),
though normal ranges vary with age, sex, and body habitus.
Sonographical features: 1. Liver size enlarged Right lobe size > 150 mm in midclavicular line. Left lobe may extend well across midline into epigastrium.Inferior tip of right lobe seen well below the lower pole of right kidney. 2. Altered liver margins & contour Inferior margin of right lobe becomes rounded (normally sharp/pointed). Inferior margin of right lobe becomes rounded (normally sharp/pointed). 3. Parenchymal echotexture (depends on etiology):Homogeneous enlargement → e.g., early congestion, acute hepatitis. Coarse / heterogeneous echotexture → chronic liver disease, infiltration, cirrhosis. Increased echogenicity → fatty infiltration. Hypoechoic / heterogeneous → acute hepatitis, lymphoma, infiltration. 4. Vascular landmarks displaced Diaphragm pushed superiorly. Portal/hepatic veins appear elongated due to enlargement. Associated findings Splenomegaly (portal hypertension, storage disorders). Ascites (cirrhosis, right heart failure).Focal lesions (if cause is tumor, abscess, hydatid cyst).
Ultrasound report line (Findings):Liver is enlarged in size with rounded inferior margin. Parenchymal echotexture is homogeneous with normal echogenicity. No focal lesion is identified. Intrahepatic biliary radicles are not dilated. Portal vein and hepatic veins are patent with normal flow. Conclusion: Hepatomegaly Recommendation: Clinical correlation is required
Symptoms: General / Constitutional
Fatigue
Malaise
Weight loss (chronic conditions)
Fever (if infectious cause)
Abdominal Symptoms
Right upper quadrant (RUQ) fullness or discomfort
Sensation of abdominal distension / bloating
Dull ache in upper abdomen (due to stretching of liver capsule)
Pain in severe enlargement or with rapid stretching
Associated Clinical Signs (depending on cause)
Jaundice – yellowing of skin/eyes (hepatitis, cirrhosis, obstruction)
Nausea / vomiting / loss of appetite
Pruritus (itching) – cholestatic disease
Ascites (fluid in abdomen) – advanced CLD or cirrhosis
Splenomegaly – in portal hypertension, hematologic disorders
General Doppler Terms PSV – Peak Systolic Velocity EDV – End Diastolic Velocity RI – Resistive Index PI – Pulsatility Index TAMV – Time-Averaged Mean Velocity ICA/CCA Ratio – Internal Carotid Artery to Common Carotid Artery PSV Ratio
Arteries CCA – Common Carotid Artery ICA – Internal Carotid Artery ECA – External Carotid Artery VA – Vertebral Artery SCA – Subclavian Artery CBT – Carotid Body Tumor
Pathology / Other AVM – Arteriovenous Malformation: Congenital or acquired abnormal communication between an artery and a vein, bypassing the capillary bed. On Doppler, shows multiple tortuous channels with color aliasing, arterialized venous flow, and low resistance waveforms.
FMD – Fibromuscular Dysplasia: Non-atherosclerotic, non-inflammatory vascular disease causing abnormal growth in arterial walls. Classically involves the distal ICA, producing a “string-of-beads” appearance with alternating stenoses and dilatations. More common in young females.
OCC – Occlusion: Complete obstruction of an artery by thrombus, plaque, or dissection flap. Ultrasound shows echogenic intraluminal material, absent color flow, and no detectable Doppler signals distal to the occlusion.
STEN – Stenosis: Hemodynamically significant narrowing of the arterial lumen, often due to atherosclerotic plaque. Doppler shows elevated peak systolic velocity (PSV), spectral broadening, post-stenotic turbulence, and aliasing in color Doppler.
ANR – Aneurysm: True focal dilatation of an artery involving all three wall layers (intima, media, adventitia). May present as fusiform or saccular. On ultrasound, appears as a localized dilated segment with swirling flow or mural thrombus.
PSAN – Pseudoaneurysm: False aneurysm where blood escapes through an arterial wall defect but is contained by the adventitia or surrounding tissue. Characterized by a “yin–yang” flow pattern on color Doppler and a to-and-fro waveform at the neck.
DIS – Dissection: Separation of the arterial wall layers due to an intimal tear, forming a true and false lumen. On ultrasound, an intimal flap may be seen with differential flow patterns in each lumen; can lead to stenosis, occlusion, or aneurysm formation.
The atrium of the lateral ventricle (measured at the level of the glomus of the choroid plexus, across the atria) is normally <10 mm. Ventriculomegaly is diagnosed when the atrial diameter is ≥10 mm.
Classification (based on atrial width)
Mild (borderline): 10–12 mm
Moderate: 13–15 mm
Severe: >15 mm (sometimes called hydrocephalus when progressive and associated with increased head size/intracranial pressure)
Severe Ventriculomegaly
Figer
Ultrasound report line (Findings):Each Lateral ventricles are markedly dilated measuring >15 mm at the atrial level, with ballooning of the ventricular atria, consistent with severe ventriculomegaly.
Right atria:15.0 mm
Left atria:17.5 mm Conclusion: Severe Ventriculomegaly Recommendation: Detailed fetal neurosonography and anomaly scan to assess associated CNS and extra-CNS anomalies.
Consider fetal MRI for further evaluation of brain parenchyma and associated anomalies.
Recommend counseling and evaluation for possible chromosomal, genetic, or TORCH infectious etiologies.
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Etiology / Causes
Ventriculomegaly can be isolated or associated with other abnormalities:
